Variant report

Variant	rs2571596
Chromosome Location	chr7:100464888-100464889
allele	C/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	TCF3	chr7:100464535-100464921	GM12878	blood:	n/a	n/a
2	STAT5A	chr7:100464385-100465358	GM12878	blood:	n/a	chr7:100464668-100464680
3	ZNF143	chr7:100464698-100465098	K562	blood:	n/a	chr7:100464807-100464825
4	RCOR1	chr7:100464571-100465087	GM12878	blood:	n/a	n/a
5	POLR2A	chr7:100464031-100465440	MCF10A-Er-Src	breast:	n/a	n/a
6	HCFC1	chr7:100462784-100465378	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr7:100464308-100465543	K562	blood:	n/a	n/a
8	POLR2A	chr7:100464619-100465354	K562	blood:	n/a	n/a
9	MAX	chr7:100464460-100465441	ECC-1	luminal epithelium:	n/a	chr7:100465338-100465348 chr7:100464740-100464747 chr7:100464920-100464931 chr7:100464921-100464930 chr7:100464916-100464935 chr7:100464730-100464746 chr7:100464666-100464676 chr7:100464919-100464932 chr7:100464739-100464748 chr7:100464921-100464930
10	USF1	chr7:100464751-100465131	SK-N-SH_RA	brain:	n/a	chr7:100464920-100464931
11	MAX	chr7:100464364-100465290	GM12878	blood:	n/a	chr7:100464740-100464747 chr7:100464920-100464931 chr7:100464921-100464930 chr7:100464916-100464935 chr7:100464730-100464746 chr7:100464666-100464676 chr7:100464919-100464932 chr7:100464739-100464748 chr7:100464921-100464930
12	ATF3	chr7:100464683-100465075	H1-hESC	embryonic stem cell:	n/a	chr7:100464945-100464960 chr7:100464947-100464960 chr7:100464945-100464958 chr7:100464949-100464956 chr7:100464948-100464959 chr7:100464949-100464960 chr7:100464946-100464956 chr7:100464945-100464956 chr7:100464947-100464958 chr7:100464949-100464959 chr7:100464946-100464959 chr7:100464949-100464959 chr7:100464947-100464958 chr7:100464948-100464956 chr7:100464949-100464957
13	MAX	chr7:100464553-100465172	K562	blood:	n/a	chr7:100464740-100464747 chr7:100464920-100464931 chr7:100464921-100464930 chr7:100464916-100464935 chr7:100464730-100464746 chr7:100464666-100464676 chr7:100464919-100464932 chr7:100464739-100464748 chr7:100464921-100464930
14	SPI1	chr7:100464658-100465445	HL-60	blood:	n/a	n/a
15	POLR2A	chr7:100463239-100465982	Hela-S3	cervix:	n/a	n/a
16	E2F6	chr7:100464442-100465114	A549	lung:	n/a	chr7:100464949-100464958 chr7:100464947-100464956
17	MAX	chr7:100462763-100466194	HCT-116	colon:	n/a	chr7:100465338-100465348 chr7:100464740-100464747 chr7:100464920-100464931 chr7:100464921-100464930 chr7:100464916-100464935 chr7:100464730-100464746 chr7:100464666-100464676 chr7:100464919-100464932 chr7:100464739-100464748 chr7:100464921-100464930
18	FOSL2	chr7:100464597-100465190	A549	lung:	n/a	chr7:100464883-100464893 chr7:100464882-100464893 chr7:100464948-100464957
19	ATF3	chr7:100464754-100464994	GM12878	blood:	n/a	chr7:100464945-100464960 chr7:100464947-100464960 chr7:100464945-100464958 chr7:100464949-100464956 chr7:100464948-100464959 chr7:100464949-100464960 chr7:100464946-100464956 chr7:100464945-100464956 chr7:100464947-100464958 chr7:100464949-100464959 chr7:100464946-100464959 chr7:100464949-100464959 chr7:100464947-100464958 chr7:100464948-100464956 chr7:100464949-100464957
20	MAZ	chr7:100463646-100465318	Hela-S3	cervix:	n/a	chr7:100464740-100464747 chr7:100464920-100464931 chr7:100464921-100464930 chr7:100464916-100464935 chr7:100464730-100464746 chr7:100464666-100464676 chr7:100464919-100464932 chr7:100464739-100464748 chr7:100464921-100464930
21	POLR2A	chr7:100464470-100465346	HUVEC	blood vessel:	n/a	n/a
22	JUN	chr7:100464773-100465138	Hela-S3	cervix:	n/a	chr7:100464883-100464893 chr7:100464944-100464957 chr7:100464882-100464893 chr7:100464948-100464957
23	USF1	chr7:100464154-100465379	HCT-116	colon:	n/a	chr7:100464920-100464931
24	JUN	chr7:100464760-100465109	K562	blood:	n/a	chr7:100464883-100464893 chr7:100464944-100464957 chr7:100464882-100464893 chr7:100464948-100464957
25	TEAD4	chr7:100464656-100465269	A549	lung:	n/a	chr7:100464938-100464947
26	RCOR1	chr7:100464495-100465118	Hela-S3	cervix:	n/a	n/a
27	TAF1	chr7:100464650-100465387	H1-hESC	embryonic stem cell:	n/a	n/a
28	USF2	chr7:100464488-100465116	K562	blood:	n/a	chr7:100464920-100464931
29	USF1	chr7:100464592-100465081	A549	lung:	n/a	chr7:100464920-100464931
30	SP1	chr7:100464616-100465178	A549	lung:	n/a	chr7:100464668-100464682 chr7:100464857-100464868 chr7:100464959-100464969 chr7:100464662-100464676
31	ZBTB7A	chr7:100464518-100465633	ECC-1	luminal epithelium:	n/a	n/a
32	SIN3A	chr7:100464627-100466064	H1-hESC	embryonic stem cell:	n/a	chr7:100464920-100464929 chr7:100464922-100464931
33	MAX	chr7:100463282-100465113	Hela-S3	cervix:	n/a	chr7:100464740-100464747 chr7:100464920-100464931 chr7:100464921-100464930 chr7:100464916-100464935 chr7:100464730-100464746 chr7:100464666-100464676 chr7:100464919-100464932 chr7:100464739-100464748 chr7:100464921-100464930
34	POLR2A	chr7:100464615-100465246	K562	blood:	n/a	n/a
35	POLR2A	chr7:100463591-100465407	Hela-S3	cervix:	n/a	n/a
36	IRF1	chr7:100464646-100465194	K562	blood:	n/a	n/a
37	MAX	chr7:100464388-100465266	MCF-7	breast:	n/a	chr7:100464740-100464747 chr7:100464920-100464931 chr7:100464921-100464930 chr7:100464916-100464935 chr7:100464730-100464746 chr7:100464666-100464676 chr7:100464919-100464932 chr7:100464739-100464748 chr7:100464921-100464930
38	ATF2	chr7:100464379-100465279	H1-hESC	embryonic stem cell:	n/a	n/a
39	POLR2A	chr7:100464594-100465449	GM19099	blood:	n/a	n/a
40	ATF2	chr7:100464464-100465245	GM12878	blood:	n/a	n/a
41	CBX3	chr7:100464297-100465252	K562	blood:	n/a	n/a
42	POLR2A	chr7:100464616-100464989	H1-hESC	embryonic stem cell:	n/a	n/a
43	POLR2A	chr7:100464633-100465410	GM18526	blood:	n/a	n/a
44	MAX	chr7:100464505-100465136	H1-hESC	embryonic stem cell:	n/a	chr7:100464740-100464747 chr7:100464920-100464931 chr7:100464921-100464930 chr7:100464916-100464935 chr7:100464730-100464746 chr7:100464666-100464676 chr7:100464919-100464932 chr7:100464739-100464748 chr7:100464921-100464930
45	POLR2A	chr7:100464647-100465977	GM12892	blood:	n/a	n/a
46	POLR2A	chr7:100463366-100465099	HCT-116	colon:	n/a	n/a
47	MAZ	chr7:100464585-100465452	GM12878	blood:	n/a	chr7:100465338-100465348 chr7:100464740-100464747 chr7:100464920-100464931 chr7:100464921-100464930 chr7:100464916-100464935 chr7:100464730-100464746 chr7:100464666-100464676 chr7:100464919-100464932 chr7:100464739-100464748 chr7:100464921-100464930
48	USF1	chr7:100464462-100465214	K562	blood:	n/a	chr7:100464920-100464931
49	CREB1	chr7:100464400-100465308	H1-hESC	embryonic stem cell:	n/a	chr7:100464946-100464959
50	JUN	chr7:100464765-100465124	HUVEC	blood vessel:	n/a	chr7:100464883-100464893 chr7:100464944-100464957 chr7:100464882-100464893 chr7:100464948-100464957

No.	Distal block	Cell Line	Cell type
1	chr7:100448977..100453392-chr7:100463620..100466806,5	K562	blood:
2	chr7:100448636..100452358-chr7:100462094..100466806,6	K562	blood:
3	chr7:100270217..100272304-chr7:100463855..100466313,2	MCF-7	breast:
4	chr2:181845181..181847277-chr7:100464247..100466142,2	MCF-7	breast:
5	chr7:100423752..100426266-chr7:100463292..100466439,3	MCF-7	breast:
6	chr19:47777725..47778662-chr7:100464354..100465144,2	NB4	blood:
7	chr7:100025401..100028370-chr7:100464359..100466273,3	K562	blood:
8	chr7:100270953..100272830-chr7:100463570..100466328,2	K562	blood:
9	chr7:100450046..100452057-chr7:100463309..100465619,3	MCF-7	breast:
10	chr19:55897327..55897930-chr7:100464356..100465144,2	Hela-S3	cervix:
11	chr7:100033419..100035678-chr7:100463885..100466048,2	MCF-7	breast:
12	chr7:100208537..100210261-chr7:100463099..100465535,2	MCF-7	breast:
13	chr7:100462666..100465346-chr7:100797740..100799401,2	MCF-7	breast:
14	chr7:100416260..100418305-chr7:100463374..100465090,2	MCF-7	breast:
15	chr7:100464019..100464889-chr8:126442460..126443145,2	Hela-S3	cervix:

Variant related genes	Relation type
TRIP6	TF binding region
ENSG00000146828	Chromatin interaction
ENSG00000106367	Chromatin interaction
ENSG00000108107	Chromatin interaction
ENSG00000236305	Chromatin interaction
ENSG00000173334	Chromatin interaction
ENSG00000160813	Chromatin interaction
ENSG00000170035	Chromatin interaction
ENSG00000196411	Chromatin interaction
ENSG00000146834	Chromatin interaction
ENSG00000240211	Chromatin interaction
ENSG00000078487	Chromatin interaction
ENSG00000106330	Chromatin interaction
ENSG00000257704	Chromatin interaction
ENSG00000172354	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs3847057	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1829095	chr7:99814675-100494084	Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	393 gene(s)	inside rSNPs	diseases
2	nsv1020837	chr7:100313122-100508635	Genic enhancers Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS 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 miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
3	esv1832517	chr7:100355490-100749246	Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
4	esv2758125	chr7:100355490-100749246	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
5	esv2759547	chr7:100355490-100749246	Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
6	nsv464647	chr7:100374087-100497131	Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
7	nsv607965	chr7:100374087-100497131	Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
8	nsv1032673	chr7:100382250-100606794	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
9	nsv888797	chr7:100386900-100482026	Bivalent/Poised TSS Flanking Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
10	nsv888798	chr7:100406144-100472826	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
11	nsv888799	chr7:100406144-100497131	Enhancers Bivalent Enhancer Active TSS Weak transcription Genic enhancers Strong transcription Flanking 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 miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
12	nsv888801	chr7:100416250-100497131	Active TSS Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
13	nsv464648	chr7:100422156-100518458	Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
14	nsv607966	chr7:100422156-100518458	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription 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 miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
15	nsv831073	chr7:100425659-100544888	Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100461800-100471400	Weak transcription	HepG2	liver
2	chr7:100463200-100465000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr7:100463200-100465000	Enhancers	Fetal Heart	heart
4	chr7:100463200-100465200	Enhancers	Fetal Brain Male	brain
5	chr7:100463400-100465400	Flanking Active TSS	Brain Germinal Matrix	brain
6	chr7:100463400-100465800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
7	chr7:100463400-100465800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
8	chr7:100463600-100466000	Flanking Active TSS	Fetal Muscle Leg	muscle
9	chr7:100463600-100466400	Flanking Active TSS	Brain Hippocampus Middle	brain
10	chr7:100463600-100466400	Active TSS	Psoas Muscle	Psoas
11	chr7:100463600-100466600	Flanking Active TSS	Stomach Smooth Muscle	stomach
12	chr7:100464000-100465000	Flanking Active TSS	Brain Angular Gyrus	brain
13	chr7:100464000-100465000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
14	chr7:100464000-100465000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
15	chr7:100464000-100465000	Flanking Active TSS	Fetal Muscle Trunk	muscle
16	chr7:100464000-100465000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
17	chr7:100464000-100465200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
18	chr7:100464000-100465400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
19	chr7:100464000-100465400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
20	chr7:100464000-100465400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
21	chr7:100464000-100465600	Flanking Active TSS	Primary B cells from peripheral blood	blood
22	chr7:100464000-100465600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
23	chr7:100464000-100466200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr7:100464000-100466400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
25	chr7:100464000-100466600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr7:100464000-100466600	Flanking Active TSS	Adipose Nuclei	Adipose
27	chr7:100464200-100465000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
28	chr7:100464200-100465000	Flanking Active TSS	Brain Cingulate Gyrus	brain
29	chr7:100464200-100465000	Enhancers	Small Intestine	intestine
30	chr7:100464200-100465000	Flanking Active TSS	Stomach Mucosa	stomach
31	chr7:100464200-100465000	Flanking Active TSS	Thymus	Thymus
32	chr7:100464200-100465000	Flanking Active TSS	HUVEC	blood vessel
33	chr7:100464200-100465400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
34	chr7:100464200-100465400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
35	chr7:100464200-100465400	Flanking Active TSS	HSMMtube	muscle
36	chr7:100464200-100465600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
37	chr7:100464200-100465800	Flanking Active TSS	Duodenum Mucosa	Duodenum
38	chr7:100464200-100466200	Flanking Active TSS	Placenta	Placenta
39	chr7:100464200-100466200	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
40	chr7:100464400-100465000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr7:100464400-100465200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
42	chr7:100464400-100465200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
43	chr7:100464400-100465400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
44	chr7:100464400-100465400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
45	chr7:100464400-100466400	Flanking Active TSS	Fetal Thymus	thymus
46	chr7:100464400-100466600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
47	chr7:100464600-100465000	Enhancers	Gastric	stomach
48	chr7:100464600-100465400	Flanking Active TSS	Primary B cells from cord blood	blood
49	chr7:100464600-100465400	Flanking Bivalent TSS/Enh	Primary Natural Killer cells fromperipheralblood	blood
50	chr7:100464600-100465400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain

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