Variant report

Variant	rs7672144
Chromosome Location	chr4:151723962-151723963
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:151220063..151221573-chr4:151722530..151725281,2	K562	blood:

Extended variants
information (count: 106 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs10000193	0.95[ASN][1000 genomes]
rs10004115	0.99[AFR][1000 genomes]
rs10006912	0.97[ASN][1000 genomes]
rs10013523	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10018648	0.95[ASN][1000 genomes]
rs10021640	0.95[AFR][1000 genomes]
rs10027710	0.95[CHB][hapmap];0.93[JPT][hapmap];0.95[ASN][1000 genomes]
rs10028040	0.91[AFR][1000 genomes]
rs10028965	0.95[ASN][1000 genomes]
rs10034695	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10520078	0.89[CHB][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs10857249	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10857251	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11099775	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1148645	0.87[EUR][1000 genomes]
rs1148652	0.89[EUR][1000 genomes]
rs1148656	1.00[CEU][hapmap];0.81[JPT][hapmap];1.00[YRI][hapmap]
rs11726025	0.80[ASN][1000 genomes]
rs11934912	0.97[ASN][1000 genomes]
rs1201198	0.87[EUR][1000 genomes]
rs1201214	0.89[EUR][1000 genomes]
rs12505967	0.95[CHB][hapmap];0.94[JPT][hapmap];0.95[ASN][1000 genomes]
rs12640376	0.95[ASN][1000 genomes]
rs12641297	0.87[JPT][hapmap]
rs1289963	0.86[AFR][1000 genomes]
rs13103081	0.95[ASN][1000 genomes]
rs13121304	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13125957	0.93[ASN][1000 genomes]
rs13128052	0.89[ASN][1000 genomes]
rs13130300	0.97[ASN][1000 genomes]
rs13145181	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13145482	0.94[CHB][hapmap];0.94[JPT][hapmap];0.95[ASN][1000 genomes]
rs13340305	0.98[AFR][1000 genomes]
rs1451633	0.94[ASN][1000 genomes]
rs1451635	0.93[ASN][1000 genomes]
rs1470763	0.95[ASN][1000 genomes]
rs1549512	0.87[JPT][hapmap]
rs17027065	0.91[AFR][1000 genomes]
rs17027116	0.98[AFR][1000 genomes]
rs1947315	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1966844	0.93[AFR][1000 genomes]
rs1993109	0.95[ASN][1000 genomes]
rs2098927	0.81[JPT][hapmap]
rs2198190	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28379788	0.87[AFR][1000 genomes]
rs28521457	0.95[AFR][1000 genomes]
rs28544421	0.82[AFR][1000 genomes]
rs28558492	0.99[AFR][1000 genomes]
rs28591543	0.95[AFR][1000 genomes]
rs28627398	0.95[AFR][1000 genomes]
rs28630451	1.00[AFR][1000 genomes]
rs294528	0.86[AFR][1000 genomes]
rs4235251	0.93[ASN][1000 genomes]
rs4318628	0.95[CHB][hapmap];0.94[JPT][hapmap];0.92[ASN][1000 genomes]
rs4336207	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4455394	0.95[ASN][1000 genomes]
rs4501201	0.95[ASN][1000 genomes]
rs4696631	0.93[ASN][1000 genomes]
rs4696633	0.98[ASN][1000 genomes]
rs4696636	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4696637	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs57790879	0.93[AFR][1000 genomes]
rs6822633	0.95[ASN][1000 genomes]
rs6825077	0.89[EUR][1000 genomes]
rs6834834	0.95[ASN][1000 genomes]
rs6835970	0.95[ASN][1000 genomes]
rs6836854	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6837840	0.97[ASN][1000 genomes]
rs6838530	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6841524	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7665654	0.97[ASN][1000 genomes]
rs7666190	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7683591	0.88[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7690485	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7691797	0.97[ASN][1000 genomes]
rs896405	0.95[ASN][1000 genomes]
rs9884181	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9884732	0.95[AFR][1000 genomes]
rs9884963	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9996572	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9997773	0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv880256	chr4:151126725-151751369	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv817540	chr4:151228965-151858609	Strong transcription Active TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv869051	chr4:151347901-151737781	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	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
5	nsv1032070	chr4:151514664-151775259	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	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
23	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
24	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
25	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

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:151645600-151749000	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr4:151653000-151749200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr4:151668400-151725600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr4:151677200-151746000	Weak transcription	Ovary	ovary
5	chr4:151686600-151737400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr4:151690600-151725600	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr4:151691000-151745600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr4:151691200-151749200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr4:151691200-151749200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr4:151691400-151731800	Weak transcription	Fetal Stomach	stomach
11	chr4:151692800-151748600	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr4:151694200-151725800	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr4:151694600-151726200	Weak transcription	Fetal Intestine Large	intestine
14	chr4:151694600-151729800	Weak transcription	GM12878-XiMat	blood
15	chr4:151694600-151732200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr4:151694600-151737200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr4:151704000-151747400	Weak transcription	Fetal Muscle Leg	muscle
18	chr4:151704600-151737600	Weak transcription	Adipose Nuclei	Adipose
19	chr4:151706400-151745800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr4:151711600-151747400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr4:151711600-151749200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr4:151712200-151742800	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr4:151712400-151732200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr4:151712800-151737200	Weak transcription	Liver	Liver
25	chr4:151712800-151742800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr4:151713000-151761200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr4:151714400-151747200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr4:151714800-151735600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr4:151715800-151737200	Weak transcription	K562	blood
30	chr4:151716600-151726400	Weak transcription	Fetal Kidney	kidney
31	chr4:151717400-151726200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr4:151717600-151726600	Weak transcription	HepG2	liver
33	chr4:151719000-151724000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr4:151719000-151737200	Weak transcription	HMEC	breast
35	chr4:151719600-151726200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr4:151719600-151733800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr4:151720200-151724000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr4:151720800-151725400	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr4:151720800-151726600	Weak transcription	Primary hematopoietic stem cells	blood
40	chr4:151721200-151726800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr4:151722000-151728400	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr4:151722200-151743600	Weak transcription	Left Ventricle	heart
43	chr4:151722400-151724000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr4:151722400-151725800	Weak transcription	Primary T cells from cord blood	blood
45	chr4:151722400-151726000	Weak transcription	Primary B cells from peripheral blood	blood
46	chr4:151722800-151724000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
47	chr4:151723200-151730200	Weak transcription	Primary B cells from cord blood	blood
48	chr4:151723200-151747400	Weak transcription	Fetal Thymus	thymus
49	chr4:151723400-151747000	Weak transcription	Fetal Intestine Small	intestine
50	chr4:151723800-151725400	Weak transcription	Duodenum Mucosa	Duodenum

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