Variant report

Variant	rs1549512
Chromosome Location	chr4:151920705-151920706
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:151915707..151928060-chr4:151934938..151939177,17	MCF-7	breast:
2	chr4:151920351..151922831-chr4:151934428..151936802,3	K562	blood:
3	chr4:151919442..151921648-chr4:151924758..151927118,2	K562	blood:
4	chr4:151920148..151922326-chr4:151925618..151927503,2	K562	blood:
5	chr4:151920425..151923102-chr4:152021028..152022824,2	K562	blood:

Variant related genes	Relation type
ENSG00000198589	Chromatin interaction

Extended variants
information (count: 80 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10020317	0.95[CHB][hapmap];0.86[JPT][hapmap];0.81[MEX][hapmap]
rs10031124	0.81[ASN][1000 genomes]
rs10222881	0.89[GIH][hapmap]
rs10776522	0.89[CHB][hapmap];0.86[JPT][hapmap]
rs10857252	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10857253	0.89[CHB][hapmap];0.83[CHD][hapmap];0.86[JPT][hapmap];0.83[TSI][hapmap]
rs11099780	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11099781	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1148645	0.85[ASN][1000 genomes]
rs1148652	0.82[ASN][1000 genomes]
rs11733964	0.95[CHB][hapmap];0.86[JPT][hapmap];0.88[MEX][hapmap];0.83[TSI][hapmap]
rs11734577	1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.82[MEX][hapmap]
rs11934792	0.95[CHB][hapmap];0.86[JPT][hapmap]
rs1201198	0.91[ASN][1000 genomes]
rs1201214	0.84[ASN][1000 genomes]
rs12505974	0.94[CHB][hapmap];0.86[JPT][hapmap];0.86[MEX][hapmap]
rs12641297	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];0.94[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12644496	0.89[CHB][hapmap];0.86[JPT][hapmap]
rs12647306	0.89[CHB][hapmap];0.86[JPT][hapmap]
rs13101417	0.95[CHB][hapmap];0.86[JPT][hapmap];0.83[TSI][hapmap]
rs13112801	0.85[EUR][1000 genomes]
rs13126862	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13141515	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs13145829	0.94[CHB][hapmap];0.86[JPT][hapmap];0.88[MEX][hapmap];0.81[TSI][hapmap]
rs1365380	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2098927	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2280280	1.00[CEU][hapmap];0.94[CHB][hapmap];0.85[JPT][hapmap]
rs2407548	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2407549	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2897659	0.95[CHB][hapmap];0.86[JPT][hapmap];0.81[TSI][hapmap]
rs3792611	0.89[CHB][hapmap];0.86[JPT][hapmap]
rs4266274	0.89[CHB][hapmap];0.86[JPT][hapmap]
rs4696640	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4696648	0.90[GIH][hapmap]
rs4696649	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4696658	0.95[CHB][hapmap];0.86[JPT][hapmap];0.88[MEX][hapmap];0.83[TSI][hapmap]
rs6833991	0.84[EUR][1000 genomes]
rs6846323	0.95[CHB][hapmap];0.86[JPT][hapmap];0.88[MEX][hapmap]
rs6847597	0.82[EUR][1000 genomes]
rs6848445	1.00[CEU][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6854299	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7441414	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7664483	0.95[CHB][hapmap];0.86[JPT][hapmap];0.88[MEX][hapmap]
rs7669180	0.95[CHB][hapmap];0.86[JPT][hapmap];0.88[MEX][hapmap]
rs7678748	0.90[GIH][hapmap]
rs7690977	0.85[EUR][1000 genomes]
rs7691584	0.95[CHB][hapmap];0.86[JPT][hapmap]
rs7693278	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024820	chr4:151364078-151943561	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv1034948	chr4:151590115-152202687	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv537302	chr4:151590115-152202687	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv530159	chr4:151624865-152203910	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv1018404	chr4:151664438-152067409	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
6	nsv1017850	chr4:151664438-152071876	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
7	esv2763837	chr4:151664438-152071888	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
8	nsv870257	chr4:151665349-152072867	Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
9	nsv1015387	chr4:151673751-152071876	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
10	nsv526976	chr4:151675819-152055073	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
11	nsv1025077	chr4:151682266-152035733	Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
12	nsv537303	chr4:151682266-152035733	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
13	nsv949066	chr4:151693149-152069566	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
14	nsv949002	chr4:151693149-152095109	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
15	nsv948719	chr4:151693149-152161625	Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
16	nsv1031720	chr4:151708502-152071876	Strong transcription Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
17	nsv880262	chr4:151712054-152519899	Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
18	nsv1031516	chr4:151718614-152065644	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
19	nsv537304	chr4:151718614-152065644	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
20	nsv1022884	chr4:151718814-152065505	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
21	nsv537305	chr4:151718814-152065505	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
22	nsv880576	chr4:151751369-151936149	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
23	nsv595689	chr4:151788955-152015704	Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
24	nsv595690	chr4:151788955-152109552	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
25	nsv881254	chr4:151829824-151936149	Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
26	nsv880429	chr4:151844476-151936149	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
27	nsv1026416	chr4:151847403-152105879	Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
28	nsv461678	chr4:151865522-151980636	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
29	nsv595692	chr4:151865522-151980636	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
30	nsv595699	chr4:151880765-151968295	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
31	nsv869553	chr4:151892289-152003402	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
32	nsv1018797	chr4:151913585-152073419	Flanking Active TSS Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:151880400-151922000	Weak transcription	Thymus	Thymus
2	chr4:151883600-151925000	Weak transcription	NHEK	skin
3	chr4:151883800-151924000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr4:151888800-151933400	Weak transcription	Fetal Lung	lung
5	chr4:151891600-151922000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr4:151892400-151925000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr4:151894000-151933200	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr4:151894200-151922200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr4:151896000-151924600	Weak transcription	Fetal Thymus	thymus
10	chr4:151896400-151921800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr4:151898600-151922200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr4:151899000-151921600	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr4:151901800-151922600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr4:151904200-151935600	Weak transcription	Aorta	Aorta
15	chr4:151909800-151930400	Weak transcription	Duodenum Mucosa	Duodenum
16	chr4:151910400-151922600	Weak transcription	Fetal Stomach	stomach
17	chr4:151912200-151921600	Weak transcription	Pancreas	Pancrea
18	chr4:151912200-151922400	Weak transcription	Gastric	stomach
19	chr4:151912200-151922600	Weak transcription	Fetal Intestine Small	intestine
20	chr4:151913400-151923200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr4:151913800-151925200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr4:151916200-151921600	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr4:151916200-151922200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr4:151916400-151921600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr4:151916400-151921800	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr4:151916400-151921800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr4:151916400-151933000	Weak transcription	Primary T cells from cord blood	blood
28	chr4:151916600-151929600	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr4:151917200-151933200	Weak transcription	HepG2	liver
30	chr4:151918400-151930400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr4:151919400-151921200	Enhancers	Primary B cells from cord blood	blood
32	chr4:151919400-151922600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr4:151919600-151921000	Enhancers	Primary B cells from peripheral blood	blood
34	chr4:151919600-151922600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
35	chr4:151919800-151922000	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr4:151919800-151923400	Enhancers	Primary T helper cells PMA-I stimulated	--
37	chr4:151920000-151920800	Enhancers	Monocytes-CD14+_RO01746	blood
38	chr4:151920000-151921000	Enhancers	HUVEC	blood vessel
39	chr4:151920000-151922800	Weak transcription	Ovary	ovary
40	chr4:151920000-151935400	Weak transcription	Fetal Muscle Trunk	muscle
41	chr4:151920200-151920800	Enhancers	Primary monocytes fromperipheralblood	blood
42	chr4:151920400-151921000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr4:151920400-151921000	Enhancers	GM12878-XiMat	blood
44	chr4:151920400-151921400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr4:151920400-151922200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr4:151920400-151923000	Enhancers	K562	blood
47	chr4:151920400-151923400	Enhancers	Primary T helper cells fromperipheralblood	blood
48	chr4:151920400-151933000	Weak transcription	Primary hematopoietic stem cells	blood
49	chr4:151920600-151920800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
50	chr4:151920600-151921000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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