Variant report

Variant	rs8176424
Chromosome Location	chr2:188366022-188366023
allele	A/G
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	NR2F2	chr2:188365601-188366328	MCF-7	breast:	n/a	n/a
2	TCF7L2	chr2:188365696-188366232	MCF-7	breast:	n/a	chr2:188365963-188365973 chr2:188365959-188365975 chr2:188365960-188365974 chr2:188365963-188365972 chr2:188365960-188365974 chr2:188365959-188365975 chr2:188365962-188365971
3	EP300	chr2:188365513-188366208	MCF-7	breast:	n/a	chr2:188365575-188365589 chr2:188365902-188365911
4	SMC3	chr2:188365410-188366532	SK-N-SH	brain:	n/a	n/a
5	CTCF	chr2:188365558-188366105	HCT-116	colon:	n/a	n/a
6	RAD21	chr2:188364265-188366334	SK-N-SH	brain:	n/a	chr2:188364853-188364867 chr2:188364853-188364862 chr2:188364854-188364868 chr2:188364852-188364871
7	REST	chr2:188365421-188366343	A549	lung:	n/a	n/a
8	CTCF	chr2:188364418-188366572	A549	lung:	n/a	chr2:188364853-188364874 chr2:188364854-188364862 chr2:188364851-188364869
9	GATA3	chr2:188365505-188366196	A549	lung:	n/a	n/a
10	ARID3A	chr2:188365601-188366189	HepG2	liver:	n/a	n/a
11	STAT3	chr2:188365711-188366123	Hela-S3	cervix:	n/a	chr2:188366018-188366030 chr2:188366007-188366015 chr2:188365904-188365912 chr2:188366025-188366037
12	GATA3	chr2:188365560-188366292	MCF-7	breast:	n/a	n/a
13	USF1	chr2:188365574-188366252	A549	lung:	n/a	n/a
14	NR2F2	chr2:188365585-188366216	MCF-7	breast:	n/a	n/a
15	MAFK	chr2:188365691-188366062	IMR90	lung:	n/a	n/a
16	POLR2A	chr2:188365502-188366186	HUVEC	blood vessel:	n/a	n/a
17	ATF3	chr2:188365526-188366189	A549	lung:	n/a	n/a
18	ZBTB33	chr2:188365532-188366171	A549	lung:	n/a	n/a
19	TCF12	chr2:188365663-188366352	MCF-7	breast:	n/a	chr2:188365837-188365846
20	TEAD4	chr2:188365597-188366173	MCF-7	breast:	n/a	n/a
21	FOS	chr2:188365851-188366116	MCF10A-Er-Src	breast:	n/a	chr2:188365904-188365913
22	RAD21	chr2:188365393-188366093	HCT-116	colon:	n/a	n/a
23	TCF7L2	chr2:188365437-188366162	Hela-S3	cervix:	n/a	chr2:188365963-188365973 chr2:188365959-188365975 chr2:188365960-188365974 chr2:188365963-188365972 chr2:188365960-188365974 chr2:188365959-188365975 chr2:188365962-188365971
24	FOS	chr2:188365725-188366150	MCF10A-Er-Src	breast:	n/a	chr2:188365904-188365913
25	GATA3	chr2:188365404-188366361	A549	lung:	n/a	n/a
26	GATA2	chr2:188365535-188366175	HUVEC	blood vessel:	n/a	n/a
27	SIN3AK20	chr2:188365604-188366156	A549	lung:	n/a	n/a
28	E2F4	chr2:188365642-188366089	MCF10A-Er-Src	breast:	n/a	n/a
29	MYC	chr2:188365650-188366057	MCF10A-Er-Src	breast:	n/a	n/a
30	BCL3	chr2:188365470-188366277	A549	lung:	n/a	chr2:188366028-188366037
31	RFX5	chr2:188365589-188366062	Hela-S3	cervix:	n/a	n/a
32	POLR2A	chr2:188364392-188366113	HepG2	liver:	n/a	n/a
33	FOXA2	chr2:188365575-188366139	A549	lung:	n/a	n/a
34	CTCF	chr2:188365515-188366060	MCF-7	breast:	n/a	n/a
35	SIN3AK20	chr2:188365569-188366170	A549	lung:	n/a	n/a
36	POLR2A	chr2:188365931-188366055	MCF10A-Er-Src	breast:	n/a	n/a
37	SP1	chr2:188365391-188366358	A549	lung:	n/a	chr2:188366028-188366037 chr2:188366027-188366039 chr2:188366021-188366035 chr2:188366017-188366031 chr2:188366027-188366039 chr2:188366029-188366038
38	SIN3AK20	chr2:188365499-188366319	MCF-7	breast:	n/a	n/a
39	SMC3	chr2:188365605-188366027	HepG2	liver:	n/a	n/a
40	FOXA2	chr2:188365427-188366296	A549	lung:	n/a	n/a
41	EP300	chr2:188365427-188366376	A549	lung:	n/a	chr2:188365575-188365589 chr2:188365902-188365911
42	BRCA1	chr2:188365675-188366568	Hela-S3	cervix:	n/a	n/a
43	BCL3	chr2:188365498-188366223	A549	lung:	n/a	chr2:188366028-188366037
44	TCF7L2	chr2:188365566-188366208	PANC-1	pancreas:	n/a	chr2:188365963-188365973 chr2:188365959-188365975 chr2:188365960-188365974 chr2:188365963-188365972 chr2:188365960-188365974 chr2:188365959-188365975 chr2:188365962-188365971
45	NR3C1	chr2:188365657-188366124	A549	lung:	n/a	n/a
46	CEBPB	chr2:188365640-188366140	Hela-S3	cervix:	n/a	n/a
47	RAD21	chr2:188365451-188366274	MCF-7	breast:	n/a	n/a
48	SMC3	chr2:188365461-188366096	Hela-S3	cervix:	n/a	n/a
49	RAD21	chr2:188365492-188366116	MCF-7	breast:	n/a	n/a
50	EP300	chr2:188365727-188366063	Hela-S3	cervix:	n/a	chr2:188365902-188365911

No.	Distal block	Cell Line	Cell type
1	chr2:188365827..188368256-chr2:188403673..188406049,2	MCF-7	breast:
2	chr2:188364663..188366800-chr2:188416557..188418283,2	K562	blood:
3	chr2:188363780..188367877-chr2:188441342..188445875,5	MCF-7	breast:
4	chr2:188365429..188366272-chr2:188444751..188446554,9	K562	blood:
5	chr2:188363922..188366266-chr2:188444694..188447033,35	MCF-7	breast:
6	chr2:188364934..188367555-chr2:188418302..188420499,2	K562	blood:
7	chr2:188363934..188366778-chr2:188370276..188373007,2	K562	blood:
8	chr2:188363950..188366399-chr2:188445083..188446553,13	MCF-7	breast:

Variant related genes	Relation type
TFPI	TF binding region
ENSG00000003436	Chromatin interaction
ENSG00000224063	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10176633	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10197436	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10206471	0.87[AMR][1000 genomes]
rs73048694	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8176409	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8176410	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8176423	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8176425	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8176426	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8176431	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8176434	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8176435	1.00[EUR][1000 genomes]
rs8176448	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8176449	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8176452	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8176457	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8176459	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8176463	1.00[EUR][1000 genomes]
rs8176469	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8176473	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8176474	1.00[EUR][1000 genomes]
rs8176476	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8176478	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8176481	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8176491	1.00[EUR][1000 genomes]
rs8176522	0.85[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875557	chr2:188219052-188370232	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers 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	4 gene(s)	inside rSNPs	diseases
2	nsv875558	chr2:188219052-188388311	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers 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	4 gene(s)	inside rSNPs	diseases
3	nsv875559	chr2:188219052-188390112	Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv875560	chr2:188219052-188508011	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	nsv875561	chr2:188226900-188440752	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
6	nsv584036	chr2:188256158-188369841	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
7	nsv875562	chr2:188258904-188370232	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
8	nsv875563	chr2:188258904-188388311	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
9	nsv875564	chr2:188258904-188414161	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS 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	4 gene(s)	inside rSNPs	diseases
10	nsv875565	chr2:188258904-188440752	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
11	nsv875566	chr2:188258904-188626214	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
12	nsv875567	chr2:188258904-188673462	Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
13	nsv834488	chr2:188268434-188415496	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS 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	4 gene(s)	inside rSNPs	diseases
14	nsv875568	chr2:188291105-188653806	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription 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	7 gene(s)	inside rSNPs	diseases
15	nsv875576	chr2:188343497-188482933	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
16	nsv875577	chr2:188343497-188500930	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
17	nsv875578	chr2:188343497-188690187	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
18	nsv997899	chr2:188356689-188531831	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
19	nsv1014298	chr2:188359747-188531831	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
20	nsv1013166	chr2:188359747-188544803	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
21	nsv1014942	chr2:188360116-188480738	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:188334200-188374600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr2:188349000-188366600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr2:188350600-188370000	Weak transcription	Small Intestine	intestine
4	chr2:188356400-188374400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr2:188358200-188370000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr2:188358400-188374600	Weak transcription	Fetal Thymus	thymus
7	chr2:188359000-188366800	Weak transcription	Fetal Stomach	stomach
8	chr2:188359200-188375600	Weak transcription	Lung	lung
9	chr2:188360200-188367400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr2:188360400-188369000	Weak transcription	Dnd41	blood
11	chr2:188360600-188366400	Weak transcription	Primary hematopoietic stem cells	blood
12	chr2:188360600-188367000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr2:188360600-188368600	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr2:188360600-188375600	Weak transcription	HSMMtube	muscle
15	chr2:188360600-188391600	Weak transcription	Psoas Muscle	Psoas
16	chr2:188361200-188367200	Weak transcription	Fetal Muscle Trunk	muscle
17	chr2:188361200-188369000	Weak transcription	Fetal Lung	lung
18	chr2:188362200-188368600	Weak transcription	K562	blood
19	chr2:188362200-188369400	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr2:188365000-188366400	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr2:188365000-188366600	Enhancers	NHDF-Ad	bronchial
22	chr2:188365000-188367200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr2:188365000-188367200	Enhancers	HUVEC	blood vessel
24	chr2:188365000-188367600	Genic enhancers	Muscle Satellite Cultured Cells	--
25	chr2:188365000-188368400	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr2:188365200-188367400	Enhancers	Osteobl	bone
27	chr2:188365200-188367600	Enhancers	NHLF	lung
28	chr2:188365200-188368200	Enhancers	Liver	Liver
29	chr2:188365400-188366200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr2:188365400-188366200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr2:188365400-188366200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr2:188365400-188366200	Enhancers	Fetal Intestine Large	intestine
33	chr2:188365400-188366200	Enhancers	Placenta	Placenta
34	chr2:188365400-188366400	Flanking Active TSS	A549	lung
35	chr2:188365400-188366400	Enhancers	NH-A	brain
36	chr2:188365400-188366600	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr2:188365400-188367200	Genic enhancers	HSMM	muscle
38	chr2:188365400-188368600	Genic enhancers	HepG2	liver
39	chr2:188365400-188369000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr2:188365400-188370400	Enhancers	Hela-S3	cervix
41	chr2:188365400-188370600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr2:188365600-188366200	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr2:188365600-188367200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr2:188365600-188367800	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr2:188365600-188376400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr2:188365800-188366200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr2:188365800-188366800	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr2:188365800-188367200	Enhancers	Duodenum Mucosa	Duodenum
49	chr2:188365800-188367400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
50	chr2:188365800-188367400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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