Variant report

Variant	rs72963629
Chromosome Location	chr4:151895211-151895212
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:26)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:26 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA1	chr4:151895014-151895459	HepG2	liver:	n/a	n/a
2	SP1	chr4:151895091-151895565	HepG2	liver:	n/a	n/a
3	EP300	chr4:151895111-151895519	HepG2	liver:	n/a	n/a
4	FOXA2	chr4:151894888-151895846	HepG2	liver:	n/a	n/a
5	FOXA1	chr4:151895100-151895465	HepG2	liver:	n/a	n/a
6	FOXA1	chr4:151895000-151895483	HepG2	liver:	n/a	n/a
7	KAP1	chr4:151895017-151896238	HEK293	kidney:	n/a	n/a
8	FOXA1	chr4:151895095-151895453	HepG2	liver:	n/a	n/a
9	TEAD4	chr4:151894962-151895682	HepG2	liver:	n/a	n/a
10	HNF4A	chr4:151895092-151895511	HepG2	liver:	n/a	n/a
11	FOXA2	chr4:151895112-151895516	HepG2	liver:	n/a	n/a
12	GATA3	chr4:151895058-151895492	MCF-7	breast:	n/a	n/a
13	EP300	chr4:151895037-151895594	HepG2	liver:	n/a	n/a
14	TCF7L2	chr4:151895103-151895370	MCF-7	breast:	n/a	n/a
15	GATA3	chr4:151894978-151895501	T-47D	breast:	n/a	n/a
16	HNF4A	chr4:151895096-151895472	HepG2	liver:	n/a	n/a
17	FOXA1	chr4:151895158-151895393	T-47D	breast:	n/a	n/a
18	FOXA1	chr4:151895109-151895396	T-47D	breast:	n/a	n/a
19	HDAC2	chr4:151895065-151895596	HepG2	liver:	n/a	n/a
20	JUND	chr4:151895168-151895551	HepG2	liver:	n/a	n/a
21	MYBL2	chr4:151895030-151895598	HepG2	liver:	n/a	n/a
22	HNF4G	chr4:151895125-151895503	HepG2	liver:	n/a	n/a
23	EP300	chr4:151895202-151895771	HepG2	liver:	n/a	n/a
24	TCF7L2	chr4:151895109-151895411	PANC-1	pancreas:	n/a	n/a
25	ARID3A	chr4:151895022-151895519	HepG2	liver:	n/a	n/a
26	TCF7L2	chr4:151894853-151895682	HEK293	kidney:	n/a	n/a

No data

(count:1 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:151890768..151892964-chr4:151894069..151896247,3	K562	blood:

No data

Variant related genes	Relation type
RNA5SP168	TF binding region
ENSG00000252451	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10452217	1.00[AMR][1000 genomes]
rs25461	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59017631	0.87[AFR][1000 genomes]
rs60323651	0.90[AFR][1000 genomes]
rs6852655	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72961854	1.00[AMR][1000 genomes]
rs72961899	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72963609	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72963628	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72963634	0.90[AFR][1000 genomes]
rs72963642	0.90[AFR][1000 genomes]
rs72963644	0.81[AFR][1000 genomes]
rs72963649	0.81[AFR][1000 genomes]
rs72963651	0.81[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	nsv4548	chr4:151867014-151908030	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
31	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
32	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

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:151876800-151902000	Weak transcription	Esophagus	oesophagus
2	chr4:151880400-151914400	Weak transcription	Primary B cells from cord blood	blood
3	chr4:151880400-151922000	Weak transcription	Thymus	Thymus
4	chr4:151882400-151897800	Weak transcription	Left Ventricle	heart
5	chr4:151883600-151925000	Weak transcription	NHEK	skin
6	chr4:151883800-151924000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr4:151885200-151897800	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr4:151885600-151898000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr4:151888800-151933400	Weak transcription	Fetal Lung	lung
10	chr4:151891200-151896600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr4:151891600-151922000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr4:151891800-151895600	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr4:151891800-151896600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr4:151892000-151895600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr4:151892000-151899000	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr4:151892200-151896600	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr4:151892200-151896600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr4:151892400-151895600	Enhancers	Primary T cells from cord blood	blood
19	chr4:151892400-151925000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr4:151892600-151897800	Weak transcription	K562	blood
21	chr4:151893200-151895600	Enhancers	GM12878-XiMat	blood
22	chr4:151893800-151903600	Weak transcription	Primary hematopoietic stem cells	blood
23	chr4:151894000-151896600	Enhancers	Primary B cells from peripheral blood	blood
24	chr4:151894000-151896600	Enhancers	Sigmoid Colon	Sigmoid Colon
25	chr4:151894000-151899400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr4:151894000-151920400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr4:151894000-151933200	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr4:151894200-151895800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr4:151894200-151896000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr4:151894200-151922200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr4:151894400-151895800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr4:151894600-151896600	Enhancers	Duodenum Mucosa	Duodenum
33	chr4:151894600-151901600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr4:151894800-151895600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
35	chr4:151894800-151895600	Enhancers	Fetal Kidney	kidney
36	chr4:151894800-151895600	Enhancers	Pancreatic Islets	Pancreatic Islet
37	chr4:151894800-151895800	Flanking Active TSS	HepG2	liver
38	chr4:151894800-151896400	Enhancers	Fetal Intestine Large	intestine
39	chr4:151894800-151896600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
40	chr4:151894800-151896600	Enhancers	Rectal Mucosa Donor 31	rectum
41	chr4:151894800-151896600	Enhancers	Small Intestine	intestine
42	chr4:151895000-151895800	Enhancers	Brain Substantia Nigra	brain
43	chr4:151895000-151895800	Weak transcription	Psoas Muscle	Psoas
44	chr4:151895000-151896200	Enhancers	A549	lung
45	chr4:151895000-151896600	Enhancers	Liver	Liver
46	chr4:151895000-151898000	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr4:151895200-151895400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr4:151895200-151895800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr4:151895200-151895800	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr4:151895200-151896000	Enhancers	Brain Hippocampus Middle	brain

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