Variant report

Variant	rs8176431
Chromosome Location	chr2:188365053-188365054
allele	A/C
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	CEBPB	chr2:188364709-188365084	K562	blood:	n/a	n/a
2	RAD21	chr2:188364563-188365241	HCT-116	colon:	n/a	chr2:188364853-188364867 chr2:188364853-188364862 chr2:188364854-188364868 chr2:188364852-188364871
3	SMC3	chr2:188364610-188365103	GM12878	blood:	n/a	chr2:188364853-188364867
4	CTCF	chr2:188364725-188365054	K562	blood:	n/a	chr2:188364853-188364874 chr2:188364854-188364862 chr2:188364851-188364869
5	RAD21	chr2:188364464-188365152	HepG2	liver:	n/a	chr2:188364853-188364867 chr2:188364853-188364862 chr2:188364854-188364868 chr2:188364852-188364871
6	RAD21	chr2:188364572-188365259	A549	lung:	n/a	chr2:188364853-188364867 chr2:188364853-188364862 chr2:188364854-188364868 chr2:188364852-188364871
7	RFX5	chr2:188364287-188365287	SK-N-SH	brain:	n/a	n/a
8	POLR2A	chr2:188364143-188365190	HUVEC	blood vessel:	n/a	n/a
9	RAD21	chr2:188364265-188366334	SK-N-SH	brain:	n/a	chr2:188364853-188364867 chr2:188364853-188364862 chr2:188364854-188364868 chr2:188364852-188364871
10	SMC3	chr2:188364511-188365315	SK-N-SH	brain:	n/a	chr2:188364853-188364867
11	CTCF	chr2:188364418-188366572	A549	lung:	n/a	chr2:188364853-188364874 chr2:188364854-188364862 chr2:188364851-188364869
12	POLR2A	chr2:188364477-188365233	K562	blood:	n/a	n/a
13	RAD21	chr2:188364704-188365061	GM12878	blood:	n/a	chr2:188364853-188364867 chr2:188364853-188364862 chr2:188364854-188364868 chr2:188364852-188364871
14	CTCF	chr2:188364650-188365082	GM12878	blood:	n/a	chr2:188364853-188364874 chr2:188364854-188364862 chr2:188364851-188364869
15	ZNF143	chr2:188364682-188365059	GM12878	blood:	n/a	n/a
16	MAFK	chr2:188364764-188365132	K562	blood:	n/a	n/a
17	RAD21	chr2:188364734-188365147	MCF-7	breast:	n/a	chr2:188364853-188364867 chr2:188364853-188364862 chr2:188364854-188364868 chr2:188364852-188364871
18	SMC3	chr2:188364680-188365142	Hela-S3	cervix:	n/a	chr2:188364853-188364867
19	RFX5	chr2:188364749-188365067	HepG2	liver:	n/a	n/a
20	CTCF	chr2:188364443-188365092	K562	blood:	n/a	chr2:188364853-188364874 chr2:188364854-188364862 chr2:188364851-188364869
21	CTCF	chr2:188364609-188365092	MCF-7	breast:	n/a	chr2:188364853-188364874 chr2:188364854-188364862 chr2:188364851-188364869
22	POLR2A	chr2:188364392-188366113	HepG2	liver:	n/a	n/a
23	CTCF	chr2:188364534-188365094	IMR90	lung:	n/a	chr2:188364853-188364874 chr2:188364854-188364862 chr2:188364851-188364869
24	RAD21	chr2:188364574-188365156	HCT-116	colon:	n/a	chr2:188364853-188364867 chr2:188364853-188364862 chr2:188364854-188364868 chr2:188364852-188364871
25	RAD21	chr2:188364566-188365155	H1-hESC	embryonic stem cell:	n/a	chr2:188364853-188364867 chr2:188364853-188364862 chr2:188364854-188364868 chr2:188364852-188364871
26	CTCF	chr2:188364595-188365112	A549	lung:	n/a	chr2:188364853-188364874 chr2:188364854-188364862 chr2:188364851-188364869
27	RAD21	chr2:188364715-188365066	SK-N-SH_RA	brain:	n/a	chr2:188364853-188364867 chr2:188364853-188364862 chr2:188364854-188364868 chr2:188364852-188364871
28	RAD21	chr2:188364650-188365153	HepG2	liver:	n/a	chr2:188364853-188364867 chr2:188364853-188364862 chr2:188364854-188364868 chr2:188364852-188364871
29	RAD21	chr2:188364586-188365175	ECC-1	luminal epithelium:	n/a	chr2:188364853-188364867 chr2:188364853-188364862 chr2:188364854-188364868 chr2:188364852-188364871
30	RFX5	chr2:188364711-188365088	GM12878	blood:	n/a	n/a
31	ARID3A	chr2:188364564-188365077	HepG2	liver:	n/a	n/a
32	GATA3	chr2:188364515-188365148	SK-N-SH	brain:	n/a	chr2:188364714-188364721 chr2:188364637-188364648
33	RFX5	chr2:188364729-188365368	K562	blood:	n/a	n/a
34	RFX5	chr2:188364569-188365305	IMR90	lung:	n/a	n/a
35	SMC3	chr2:188364652-188365087	HepG2	liver:	n/a	chr2:188364853-188364867
36	MBD4	chr2:188364605-188365198	HepG2	liver:	n/a	n/a
37	ARID3A	chr2:188364484-188365250	K562	blood:	n/a	chr2:188365216-188365232
38	RAD21	chr2:188364652-188365078	GM12878	blood:	n/a	chr2:188364853-188364867 chr2:188364853-188364862 chr2:188364854-188364868 chr2:188364852-188364871
39	RAD21	chr2:188364685-188365081	K562	blood:	n/a	chr2:188364853-188364867 chr2:188364853-188364862 chr2:188364854-188364868 chr2:188364852-188364871
40	RAD21	chr2:188364602-188365106	SK-N-SH_RA	brain:	n/a	chr2:188364853-188364867 chr2:188364853-188364862 chr2:188364854-188364868 chr2:188364852-188364871
41	RAD21	chr2:188364684-188365069	A549	lung:	n/a	chr2:188364853-188364867 chr2:188364853-188364862 chr2:188364854-188364868 chr2:188364852-188364871
42	RFX5	chr2:188364692-188365107	Hela-S3	cervix:	n/a	n/a
43	RAD21	chr2:188364671-188365226	Hela-S3	cervix:	n/a	chr2:188364853-188364867 chr2:188364853-188364862 chr2:188364854-188364868 chr2:188364852-188364871
44	CTCF	chr2:188364615-188365321	HCT-116	colon:	n/a	chr2:188364853-188364874 chr2:188364854-188364862 chr2:188364851-188364869
45	FOXM1	chr2:188364671-188365088	GM12878	blood:	n/a	n/a
46	CUX1	chr2:188364561-188365075	K562	blood:	n/a	n/a
47	RAD21	chr2:188364530-188365184	MCF-7	breast:	n/a	chr2:188364853-188364867 chr2:188364853-188364862 chr2:188364854-188364868 chr2:188364852-188364871
48	SMC3	chr2:188364662-188365065	K562	blood:	n/a	chr2:188364853-188364867
49	CTCF	chr2:188364559-188365265	SK-N-SH	brain:	n/a	chr2:188364853-188364874 chr2:188364854-188364862 chr2:188364851-188364869
50	RAD21	chr2:188364455-188365158	IMR90	lung:	n/a	chr2:188364853-188364867 chr2:188364853-188364862 chr2:188364854-188364868 chr2:188364852-188364871

No.	Distal block	Cell Line	Cell type
1	chr2:188363929..188365341-chr2:188444758..188446502,16	K562	blood:
2	chr2:188364379..188365187-chr2:188708060..188708991,2	MCF-7	breast:
3	chr2:188364448..188365318-chr2:188707678..188708407,3	K562	blood:
4	chr2:188364663..188366800-chr2:188416557..188418283,2	K562	blood:
5	chr2:188363780..188367877-chr2:188441342..188445875,5	MCF-7	breast:
6	chr2:188363922..188366266-chr2:188444694..188447033,35	MCF-7	breast:
7	chr2:188364934..188367555-chr2:188418302..188420499,2	K562	blood:
8	chr2:188363934..188366778-chr2:188370276..188373007,2	K562	blood:
9	chr2:188363950..188366399-chr2:188445083..188446553,13	MCF-7	breast:

Variant related genes	Relation type
TFPI	TF binding region
ENSG00000224063	Chromatin interaction
ENSG00000003436	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]
rs8176424	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]
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:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:188328400-188365400	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr2:188334200-188374600	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr2:188349000-188366600	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr2:188350600-188370000	Weak transcription	Small Intestine	intestine
5	chr2:188356400-188374400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr2:188356600-188365400	Strong transcription	HepG2	liver
7	chr2:188357600-188365400	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr2:188358200-188370000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr2:188358400-188374600	Weak transcription	Fetal Thymus	thymus
10	chr2:188359000-188366800	Weak transcription	Fetal Stomach	stomach
11	chr2:188359200-188375600	Weak transcription	Lung	lung
12	chr2:188360200-188367400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr2:188360400-188369000	Weak transcription	Dnd41	blood
14	chr2:188360600-188365400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr2:188360600-188365400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr2:188360600-188365400	Weak transcription	Duodenum Mucosa	Duodenum
17	chr2:188360600-188365400	Weak transcription	Hela-S3	cervix
18	chr2:188360600-188365800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr2:188360600-188366400	Weak transcription	Primary hematopoietic stem cells	blood
20	chr2:188360600-188367000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr2:188360600-188368600	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr2:188360600-188375600	Weak transcription	HSMMtube	muscle
23	chr2:188360600-188391600	Weak transcription	Psoas Muscle	Psoas
24	chr2:188361200-188367200	Weak transcription	Fetal Muscle Trunk	muscle
25	chr2:188361200-188369000	Weak transcription	Fetal Lung	lung
26	chr2:188361800-188365400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr2:188361800-188365400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr2:188361800-188365400	Weak transcription	Fetal Intestine Large	intestine
29	chr2:188362000-188365200	Weak transcription	Osteobl	bone
30	chr2:188362000-188365400	Weak transcription	Placenta	Placenta
31	chr2:188362200-188365200	Weak transcription	Liver	Liver
32	chr2:188362200-188365400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr2:188362200-188365600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr2:188362200-188368600	Weak transcription	K562	blood
35	chr2:188362200-188369400	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr2:188362800-188365200	Weak transcription	NHLF	lung
37	chr2:188362800-188365400	Weak transcription	NH-A	brain
38	chr2:188363200-188365400	Strong transcription	HSMM	muscle
39	chr2:188364000-188365400	Enhancers	A549	lung
40	chr2:188365000-188365600	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr2:188365000-188365600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr2:188365000-188365600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr2:188365000-188366400	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr2:188365000-188366600	Enhancers	NHDF-Ad	bronchial
45	chr2:188365000-188367200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr2:188365000-188367200	Enhancers	HUVEC	blood vessel
47	chr2:188365000-188367600	Genic enhancers	Muscle Satellite Cultured Cells	--
48	chr2:188365000-188368400	Enhancers	HUES6 Cell Line	embryonic stem cell

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