Variant report

Variant	rs6464124
Chromosome Location	chr7:150784824-150784825
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:150784015-150785218	GM18505	blood:	n/a	n/a
2	MYC	chr7:150784099-150785365	MCF10A-Er-Src	breast:	n/a	chr7:150784860-150784870 chr7:150784708-150784715
3	HEY1	chr7:150784352-150784931	K562	blood:	n/a	chr7:150784863-150784878
4	SIN3A	chr7:150784048-150785144	GM12878	blood:	n/a	chr7:150784683-150784692 chr7:150784612-150784625 chr7:150784807-150784816 chr7:150784512-150784525 chr7:150784457-150784468 chr7:150784589-150784598 chr7:150784582-150784595
5	CTCF	chr7:150784780-150784930	GM12873	blood:	n/a	n/a
6	CTCF	chr7:150784246-150784983	K562	blood:	n/a	chr7:150784603-150784616
7	POLR2A	chr7:150782028-150787573	IMR90	lung:	n/a	n/a
8	MAZ	chr7:150783896-150786994	IMR90	lung:	n/a	chr7:150784860-150784870 chr7:150785730-150785740 chr7:150784708-150784715
9	GABPA	chr7:150784466-150784967	H1-hESC	embryonic stem cell:	n/a	chr7:150784673-150784682
10	ELK1	chr7:150784444-150784938	Hela-S3	cervix:	n/a	n/a
11	MAX	chr7:150784178-150785270	A549	lung:	n/a	chr7:150784860-150784870 chr7:150784708-150784715
12	TAF1	chr7:150784437-150784925	SK-N-SH	brain:	n/a	n/a
13	NR2F2	chr7:150784073-150784864	K562	blood:	n/a	n/a
14	POLR2A	chr7:150784123-150785200	GM18526	blood:	n/a	n/a
15	TAF1	chr7:150784432-150784903	K562	blood:	n/a	n/a
16	POLR2A	chr7:150784319-150785021	U87	brain:	n/a	n/a
17	JUND	chr7:150784067-150784880	K562	blood:	n/a	chr7:150784410-150784419 chr7:150784753-150784764
18	MAX	chr7:150783956-150785022	MCF-7	breast:	n/a	chr7:150784860-150784870 chr7:150784708-150784715
19	POLR2A	chr7:150784409-150785130	HUVEC	blood vessel:	n/a	n/a
20	MYBL2	chr7:150784347-150785049	HepG2	liver:	n/a	n/a
21	GATA2	chr7:150783930-150785303	SH-SY5Y	brain:	n/a	chr7:150784932-150784942
22	EBF1	chr7:150784387-150785248	GM12878	blood:	n/a	n/a
23	POLR2A	chr7:150784606-150785076	HepG2	liver:	n/a	n/a
24	BHLHE40	chr7:150784505-150785087	GM12878	blood:	n/a	chr7:150784668-150784684
25	RCOR1	chr7:150784445-150784868	K562	blood:	n/a	n/a
26	NFIC	chr7:150784704-150785151	GM12878	blood:	n/a	n/a
27	MAX	chr7:150784150-150785282	GM12878	blood:	n/a	chr7:150784860-150784870 chr7:150784708-150784715
28	WRNIP1	chr7:150784641-150786174	GM12878	blood:	n/a	n/a
29	ETS1	chr7:150783950-150785047	K562	blood:	n/a	chr7:150784852-150784861 chr7:150784932-150784941 chr7:150784409-150784420 chr7:150784932-150784946 chr7:150784933-150784944 chr7:150784479-150784492
30	GABPA	chr7:150784758-150785085	A549	lung:	n/a	n/a
31	SIN3A	chr7:150783969-150785686	H1-hESC	embryonic stem cell:	n/a	chr7:150784683-150784692 chr7:150784612-150784625 chr7:150784807-150784816 chr7:150784512-150784525 chr7:150784457-150784468 chr7:150784589-150784598 chr7:150784582-150784595
32	ZBTB7A	chr7:150782512-150785231	K562	blood:	n/a	n/a
33	MYC	chr7:150784046-150785495	NB4	blood:	n/a	chr7:150784860-150784870 chr7:150784708-150784715
34	POLR2A	chr7:150784006-150785211	GM18951	blood:	n/a	n/a
35	PAX5	chr7:150784250-150785116	GM12892	blood:	n/a	chr7:150784932-150784941
36	FOXP2	chr7:150784446-150785084	PFSK-1	brain:	n/a	n/a
37	RUNX3	chr7:150784410-150785266	GM12878	blood:	n/a	n/a
38	MAX	chr7:150784030-150785164	Hela-S3	cervix:	n/a	chr7:150784860-150784870 chr7:150784708-150784715
39	MAX	chr7:150783987-150785170	H1-hESC	embryonic stem cell:	n/a	chr7:150784860-150784870 chr7:150784708-150784715
40	MYC	chr7:150784469-150784863	K562	blood:	n/a	chr7:150784708-150784715
41	POLR2A	chr7:150784136-150785028	MCF10A-Er-Src	breast:	n/a	n/a
42	CTCF	chr7:150784800-150784950	A549	lung:	n/a	n/a
43	MAX	chr7:150784044-150785433	NB4	blood:	n/a	chr7:150784860-150784870 chr7:150784708-150784715
44	TAF1	chr7:150784365-150785166	HepG2	liver:	n/a	n/a
45	POLR2A	chr7:150782169-150787040	HUVEC	blood vessel:	n/a	n/a
46	POLR2A	chr7:150784813-150784829	K562	blood:	n/a	n/a
47	NFIC	chr7:150784281-150784906	ECC-1	luminal epithelium:	n/a	n/a
48	TCF12	chr7:150784672-150785370	A549	lung:	n/a	n/a
49	POLR2A	chr7:150784499-150785041	GM12891	blood:	n/a	n/a
50	POLR2A	chr7:150784366-150785079	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:150651843..150653881-chr7:150784068..150785698,2	MCF-7	breast:
2	chr2:176970818..176972344-chr7:150783415..150786147,2	MCF-7	breast:
3	chr7:150784550..150785319-chr7:150808021..150808851,2	MCF-7	breast:
4	chr7:150784397..150785064-chr7:150807380..150808355,2	MCF-7	breast:

Variant related genes	Relation type
TMUB1	TF binding region
AGAP3	TF binding region
ENSG00000128713	Chromatin interaction
ENSG00000055118	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10227172	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10270107	0.85[EUR][1000 genomes]
rs10271154	0.83[EUR][1000 genomes]
rs11765200	0.84[EUR][1000 genomes]
rs11773852	0.81[EUR][1000 genomes]
rs12670760	0.89[ASN][1000 genomes]
rs13225215	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13239507	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1978655	0.83[ASN][1000 genomes]
rs28645628	0.86[ASN][1000 genomes]
rs4725388	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4725990	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60987133	0.80[ASN][1000 genomes]
rs62490312	0.83[ASN][1000 genomes]
rs6464125	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6464126	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6464127	0.81[EUR][1000 genomes]
rs6464128	0.81[EUR][1000 genomes]
rs6945151	0.85[EUR][1000 genomes]
rs749318	0.83[ASN][1000 genomes]
rs749319	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7783954	0.83[ASN][1000 genomes]
rs9097	0.81[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	esv1821419	chr7:150593315-150974269	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	128 gene(s)	inside rSNPs	diseases
2	nsv889465	chr7:150640285-150800823	Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
3	nsv1028645	chr7:150643928-150806534	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases
4	nsv539198	chr7:150643928-150879259	Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
5	nsv889476	chr7:150729212-150951819	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	120 gene(s)	inside rSNPs	diseases
6	nsv1031733	chr7:150730999-150790517	Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
7	nsv889477	chr7:150731698-150837529	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
8	nsv889478	chr7:150732812-150889527	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
9	nsv831188	chr7:150735204-150912875	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
10	nsv889479	chr7:150736382-150785321	Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent Enhancer Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
11	nsv889480	chr7:150736382-150797581	Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
12	nsv1028023	chr7:150738624-150790517	Strong transcription Genic enhancers Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
13	nsv465214	chr7:150751590-150822192	Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
14	nsv609012	chr7:150751590-150822192	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
15	nsv609013	chr7:150751590-150832913	Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
16	nsv465215	chr7:150762871-150825087	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
17	nsv609014	chr7:150762871-150825087	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
18	nsv889481	chr7:150766799-150837529	Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
19	nsv889482	chr7:150766799-150851566	Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
20	nsv889483	chr7:150773165-150787046	Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	26 gene(s)	inside rSNPs	diseases
21	nsv889484	chr7:150774308-150787046	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	26 gene(s)	inside rSNPs	diseases
22	nsv889485	chr7:150774308-150788304	Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	27 gene(s)	inside rSNPs	diseases
23	nsv889486	chr7:150775306-150891641	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
24	esv3343113	chr7:150782644-150785192	Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
25	esv3418337	chr7:150782769-150784967	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150782600-150786600	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr7:150782800-150785000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
3	chr7:150782800-150785000	Active TSS	Aorta	Aorta
4	chr7:150782800-150785000	Active TSS	Fetal Brain Female	brain
5	chr7:150782800-150785400	Active TSS	H9 Cell Line	embryonic stem cell
6	chr7:150782800-150785400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr7:150783000-150785000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr7:150783000-150785000	Active TSS	Brain Angular Gyrus	brain
9	chr7:150783000-150785000	Active TSS	Brain Substantia Nigra	brain
10	chr7:150783000-150785000	Active TSS	Small Intestine	intestine
11	chr7:150783000-150785000	Active TSS	Hela-S3	cervix
12	chr7:150783000-150785000	Active TSS	NHEK	skin
13	chr7:150783000-150785200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr7:150783000-150785200	Bivalent/Poised TSS	Thymus	Thymus
15	chr7:150783000-150785200	Active TSS	HSMMtube	muscle
16	chr7:150783000-150786400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr7:150783200-150785000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr7:150783200-150785000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr7:150783200-150785000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr7:150783200-150785000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr7:150783200-150785000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr7:150783200-150785000	Active TSS	Breast Myoepithelial Primary Cells	Breast
23	chr7:150783200-150785000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr7:150783200-150785000	Active TSS	Muscle Satellite Cultured Cells	--
25	chr7:150783200-150785000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr7:150783200-150785000	Active TSS	Liver	Liver
27	chr7:150783200-150785000	Active TSS	Brain Germinal Matrix	brain
28	chr7:150783200-150785000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
29	chr7:150783200-150785000	Active TSS	Duodenum Smooth Muscle	Duodenum
30	chr7:150783200-150785000	Active TSS	Rectal Smooth Muscle	rectum
31	chr7:150783200-150785000	Active TSS	A549	lung
32	chr7:150783200-150785000	Active TSS	HSMM	muscle
33	chr7:150783200-150785000	Active TSS	NHDF-Ad	bronchial
34	chr7:150783200-150785000	Active TSS	NHLF	lung
35	chr7:150783200-150785600	Active TSS	Lung	lung
36	chr7:150783400-150785000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr7:150784000-150785000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr7:150784000-150785000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
39	chr7:150784000-150785000	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
40	chr7:150784000-150785000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
41	chr7:150784000-150785000	Flanking Active TSS	Dnd41	blood
42	chr7:150784000-150785200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
43	chr7:150784000-150785200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
44	chr7:150784000-150785200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
45	chr7:150784000-150785200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
46	chr7:150784000-150785400	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
47	chr7:150784000-150785400	Flanking Active TSS	Colonic Mucosa	Colon
48	chr7:150784000-150785400	Active TSS	Fetal Kidney	kidney
49	chr7:150784000-150785400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
50	chr7:150784000-150785800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum

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