Variant report

Variant	rs72963644
Chromosome Location	chr4:151915579-151915580
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:151895289..151897770-chr4:151914690..151916756,2	MCF-7	breast:
2	chr4:151915343..151917992-chr4:151922755..151924618,2	K562	blood:
3	chr4:151912076..151914009-chr4:151914164..151918224,4	K562	blood:

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs25461	0.83[AFR][1000 genomes]
rs58601533	0.88[AFR][1000 genomes]
rs59017631	0.90[AFR][1000 genomes]
rs60323651	0.92[AFR][1000 genomes]
rs6535758	0.89[AFR][1000 genomes]
rs6817611	0.91[AFR][1000 genomes]
rs6852655	0.81[AFR][1000 genomes]
rs72961899	0.83[AFR][1000 genomes]
rs72963609	0.83[AFR][1000 genomes]
rs72963628	0.88[AFR][1000 genomes]
rs72963629	0.81[AFR][1000 genomes]
rs72963634	0.92[AFR][1000 genomes]
rs72963637	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72963642	0.92[AFR][1000 genomes]
rs72963649	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72963651	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72963676	0.89[AFR][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:44 , 50 per page) page: 1

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	chr4:151894000-151920400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr4:151894000-151933200	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr4:151894200-151922200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr4:151896000-151924600	Weak transcription	Fetal Thymus	thymus
11	chr4:151896400-151921800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr4:151898600-151922200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr4:151899000-151921600	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr4:151899600-151919400	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr4:151899600-151920000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr4:151901800-151916000	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr4:151901800-151922600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr4:151904000-151916800	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr4:151904200-151935600	Weak transcription	Aorta	Aorta
20	chr4:151908200-151915600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr4:151908200-151920600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr4:151908400-151919600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr4:151908400-151920400	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr4:151908400-151920600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr4:151908600-151916000	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr4:151908600-151916000	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr4:151909800-151930400	Weak transcription	Duodenum Mucosa	Duodenum
28	chr4:151910400-151922600	Weak transcription	Fetal Stomach	stomach
29	chr4:151912200-151916400	Strong transcription	Primary T cells from cord blood	blood
30	chr4:151912200-151921600	Weak transcription	Pancreas	Pancrea
31	chr4:151912200-151922400	Weak transcription	Gastric	stomach
32	chr4:151912200-151922600	Weak transcription	Fetal Intestine Small	intestine
33	chr4:151913000-151915800	Weak transcription	Primary B cells from peripheral blood	blood
34	chr4:151913000-151919400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr4:151913400-151923200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr4:151913800-151925200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr4:151915000-151915600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
38	chr4:151915200-151915600	ZNF genes & repeats	K562	blood
39	chr4:151915200-151916400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
40	chr4:151915200-151916400	ZNF genes & repeats	GM12878-XiMat	blood
41	chr4:151915400-151916200	Enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr4:151915400-151917800	Weak transcription	Psoas Muscle	Psoas
43	chr4:151915400-151919400	Weak transcription	Primary B cells from cord blood	blood
44	chr4:151915400-151919400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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