Variant report

Variant	rs7371631
Chromosome Location	chr2:172865394-172865395
allele	A/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	REST	chr2:172864546-172865635	HL-60	blood:	n/a	chr2:172865495-172865509 chr2:172865489-172865509
2	SIX5	chr2:172864512-172865440	A549	lung:	n/a	n/a
3	PML	chr2:172864340-172865439	K562	blood:	n/a	n/a
4	NFIC	chr2:172864386-172865466	HepG2	liver:	n/a	n/a
5	MAX	chr2:172864353-172865534	HCT-116	colon:	n/a	chr2:172865132-172865145 chr2:172865134-172865143 chr2:172865134-172865143 chr2:172865133-172865144 chr2:172865134-172865144 chr2:172865134-172865144 chr2:172865133-172865144 chr2:172865134-172865143 chr2:172865133-172865144
6	NFIC	chr2:172864576-172865514	HepG2	liver:	n/a	n/a
7	MAX	chr2:172864520-172865468	A549	lung:	n/a	chr2:172865132-172865145 chr2:172865134-172865143 chr2:172865134-172865143 chr2:172865133-172865144 chr2:172865134-172865144 chr2:172865134-172865144 chr2:172865133-172865144 chr2:172865134-172865143 chr2:172865133-172865144
8	MYC	chr2:172864721-172865397	Hela-S3	cervix:	n/a	chr2:172865132-172865145 chr2:172865134-172865143 chr2:172865134-172865143 chr2:172865133-172865144 chr2:172865134-172865144 chr2:172865134-172865144 chr2:172865133-172865144 chr2:172865134-172865143 chr2:172865133-172865144
9	BCL3	chr2:172864390-172865401	A549	lung:	n/a	n/a
10	YY1	chr2:172864609-172865454	A549	lung:	n/a	chr2:172864825-172864839 chr2:172864866-172864886 chr2:172864828-172864842
11	HEY1	chr2:172864543-172865613	HepG2	liver:	n/a	n/a
12	TBL1XR1	chr2:172864349-172865814	K562	blood:	n/a	n/a
13	MYC	chr2:172864538-172865500	Hela-S3	cervix:	n/a	chr2:172865132-172865145 chr2:172865134-172865143 chr2:172865134-172865143 chr2:172865133-172865144 chr2:172865134-172865144 chr2:172865134-172865144 chr2:172865133-172865144 chr2:172865134-172865143 chr2:172865133-172865144
14	HCFC1	chr2:172864424-172865446	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr2:172864429-172865408	K562	blood:	n/a	n/a
16	CEBPB	chr2:172864731-172865591	K562	blood:	n/a	chr2:172865145-172865158
17	MYC	chr2:172864639-172865486	K562	blood:	n/a	chr2:172865132-172865145 chr2:172865134-172865143 chr2:172865134-172865143 chr2:172865133-172865144 chr2:172865134-172865144 chr2:172865134-172865144 chr2:172865133-172865144 chr2:172865134-172865143 chr2:172865133-172865144
18	TAF7	chr2:172864473-172865404	H1-hESC	embryonic stem cell:	n/a	n/a
19	NFIC	chr2:172864530-172865527	GM12878	blood:	n/a	n/a
20	TBP	chr2:172864641-172865535	Hela-S3	cervix:	n/a	n/a
21	POLR2A	chr2:172864503-172865396	HL-60	blood:	n/a	n/a
22	TEAD4	chr2:172864312-172865939	HepG2	liver:	n/a	n/a
23	MTA3	chr2:172864622-172865472	GM12878	blood:	n/a	n/a
24	IRF1	chr2:172864322-172866100	K562	blood:	n/a	n/a
25	MAZ	chr2:172864469-172865887	IMR90	lung:	n/a	chr2:172865132-172865145 chr2:172865134-172865143 chr2:172865134-172865143 chr2:172865133-172865144 chr2:172865134-172865144 chr2:172865134-172865144 chr2:172865133-172865144 chr2:172865134-172865143 chr2:172865133-172865144
26	POLR2A	chr2:172864345-172865516	K562	blood:	n/a	n/a
27	POLR2A	chr2:172864288-172865454	HUVEC	blood vessel:	n/a	n/a
28	CREB1	chr2:172864365-172865455	HepG2	liver:	n/a	n/a
29	MAX	chr2:172864375-172865462	HepG2	liver:	n/a	chr2:172865132-172865145 chr2:172865134-172865143 chr2:172865134-172865143 chr2:172865133-172865144 chr2:172865134-172865144 chr2:172865134-172865144 chr2:172865133-172865144 chr2:172865134-172865143 chr2:172865133-172865144
30	FOSL2	chr2:172864370-172865471	A549	lung:	n/a	chr2:172864832-172864841
31	RCOR1	chr2:172864103-172865421	K562	blood:	n/a	n/a
32	EP300	chr2:172864767-172866005	GM12878	blood:	n/a	chr2:172864819-172864835 chr2:172865374-172865388 chr2:172865065-172865072
33	CHD2	chr2:172864346-172865497	K562	blood:	n/a	n/a
34	MYC	chr2:172864443-172866003	K562	blood:	n/a	chr2:172865132-172865145 chr2:172865134-172865143 chr2:172865134-172865143 chr2:172865133-172865144 chr2:172865134-172865144 chr2:172865134-172865144 chr2:172865133-172865144 chr2:172865134-172865143 chr2:172865133-172865144
35	MAX	chr2:172864335-172865547	HCT-116	colon:	n/a	chr2:172865132-172865145 chr2:172865134-172865143 chr2:172865134-172865143 chr2:172865133-172865144 chr2:172865134-172865144 chr2:172865134-172865144 chr2:172865133-172865144 chr2:172865134-172865143 chr2:172865133-172865144
36	MAFK	chr2:172864267-172865432	Hela-S3	cervix:	n/a	n/a
37	USF1	chr2:172864608-172865462	HCT-116	colon:	n/a	chr2:172864856-172864867 chr2:172864823-172864839
38	POLR2A	chr2:172864447-172865448	K562	blood:	n/a	n/a
39	E2F6	chr2:172864548-172865446	A549	lung:	n/a	chr2:172864828-172864837
40	TBL1XR1	chr2:172864297-172865847	K562	blood:	n/a	n/a
41	MAX	chr2:172864364-172865443	K562	blood:	n/a	chr2:172865132-172865145 chr2:172865134-172865143 chr2:172865134-172865143 chr2:172865133-172865144 chr2:172865134-172865144 chr2:172865134-172865144 chr2:172865133-172865144 chr2:172865134-172865143 chr2:172865133-172865144
42	POLR2A	chr2:172864332-172865487	U87	brain:	n/a	n/a
43	POLR2A	chr2:172864507-172865554	IMR90	lung:	n/a	n/a
44	MAX	chr2:172864358-172865550	A549	lung:	n/a	chr2:172865132-172865145 chr2:172865134-172865143 chr2:172865134-172865143 chr2:172865133-172865144 chr2:172865134-172865144 chr2:172865134-172865144 chr2:172865133-172865144 chr2:172865134-172865143 chr2:172865133-172865144
45	POLR2A	chr2:172864483-172866178	K562	blood:	n/a	n/a
46	POLR2A	chr2:172864422-172866036	K562	blood:	n/a	n/a
47	TAF1	chr2:172864541-172865535	ECC-1	luminal epithelium:	n/a	n/a
48	GTF2F1	chr2:172864473-172865411	K562	blood:	n/a	n/a
49	MAX	chr2:172864510-172865467	Hela-S3	cervix:	n/a	chr2:172865132-172865145 chr2:172865134-172865143 chr2:172865134-172865143 chr2:172865133-172865144 chr2:172865134-172865144 chr2:172865134-172865144 chr2:172865133-172865144 chr2:172865134-172865143 chr2:172865133-172865144
50	STAT5A	chr2:172864436-172865494	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:172864878..172867088-chr2:172885343..172888601,3	MCF-7	breast:
2	chr2:172836942..172840182-chr2:172865086..172867545,3	K562	blood:
3	chr2:172863226..172865802-chr2:172966081..172969208,5	MCF-7	breast:
4	chr2:172865192..172866696-chr2:172882365..172884619,2	K562	blood:
5	chr2:172860607..172867322-chr2:172946572..172954768,24	MCF-7	breast:
6	chr2:172863189..172867097-chr2:172945137..172953576,15	K562	blood:
7	chr2:172777448..172780536-chr2:172864307..172867165,5	K562	blood:
8	chr2:172777448..172780686-chr2:172863264..172866650,5	K562	blood:
9	chr2:172859788..172868192-chr2:172944876..172951443,18	MCF-7	breast:
10	chr2:172861569..172867068-chr2:172965912..172971063,13	K562	blood:
11	chr2:172863189..172870519-chr2:172946500..172952655,22	K562	blood:
12	chr2:172865319..172867165-chr2:172958797..172961537,3	MCF-7	breast:
13	chr2:172289221..172292184-chr2:172864925..172866500,2	K562	blood:
14	chr2:172377500..172380432-chr2:172864656..172866178,2	K562	blood:
15	chr2:172837275..172840182-chr2:172865086..172867056,2	K562	blood:
16	chr2:172749212..172752099-chr2:172863500..172865923,3	MCF-7	breast:
17	chr11:65265208..65268065-chr2:172864519..172866349,2	MCF-7	breast:
18	chr2:172862808..172868920-chr2:172961807..172971063,13	K562	blood:
19	chr2:85843078..85843730-chr2:172865077..172865933,2	Hela-S3	cervix:

Variant related genes	Relation type
SLC25A12	TF binding region
ENSG00000172878	Chromatin interaction
ENSG00000168883	Chromatin interaction
ENSG00000123600	Chromatin interaction
ENSG00000251562	Chromatin interaction
ENSG00000115844	Chromatin interaction
ENSG00000144355	Chromatin interaction
ENSG00000236651	Chromatin interaction
ENSG00000115840	Chromatin interaction
ENSG00000071967	Chromatin interaction
ENSG00000270117	Chromatin interaction
ENSG00000128708	Chromatin interaction
ENSG00000115827	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10166352	0.82[ASN][1000 genomes]
rs10177679	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10179020	0.83[AMR][1000 genomes]
rs10191399	0.89[AMR][1000 genomes]
rs10196521	0.89[AMR][1000 genomes]
rs10432474	0.91[AMR][1000 genomes]
rs10930501	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1105264	0.89[AMR][1000 genomes]
rs11676484	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11677573	0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs11683436	0.85[ASN][1000 genomes]
rs11903123	0.83[AMR][1000 genomes]
rs11903410	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12467010	0.97[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12473516	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12479374	0.92[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs13031370	0.85[AMR][1000 genomes]
rs13399316	0.97[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1400816	0.86[AMR][1000 genomes]
rs1443699	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1878583	0.89[AMR][1000 genomes]
rs1982288	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1996425	0.89[AMR][1000 genomes]
rs2028670	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2028671	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2028672	0.88[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2292813	0.82[AMR][1000 genomes]
rs2357207	0.97[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2357208	0.97[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs28372952	0.94[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs3770444	0.89[AMR][1000 genomes]
rs3770457	0.83[AMR][1000 genomes]
rs3791343	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3821092	0.88[AMR][1000 genomes]
rs3821094	0.86[AMR][1000 genomes]
rs3821096	0.83[AMR][1000 genomes]
rs4507064	0.82[AMR][1000 genomes]
rs4668417	0.88[AMR][1000 genomes]
rs60706248	0.97[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6433313	0.83[AMR][1000 genomes]
rs6433315	0.86[AMR][1000 genomes]
rs6433316	0.88[AMR][1000 genomes]
rs6433318	0.97[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6433322	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6707142	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6714214	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6726050	0.91[AMR][1000 genomes]
rs6733123	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6742905	0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6753551	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6753859	0.85[AMR][1000 genomes]
rs7371503	0.88[ASN][1000 genomes]
rs7583860	0.84[AMR][1000 genomes]
rs7597525	0.90[ASN][1000 genomes]
rs7598232	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs949548	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875410	chr2:172693780-172896587	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv875411	chr2:172693780-172942448	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	esv2830399	chr2:172781830-172952526	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
4	nsv1012188	chr2:172855923-172928891	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172863600-172865600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
2	chr2:172863800-172865400	Active TSS	Brain Anterior Caudate	brain
3	chr2:172864000-172865400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr2:172864000-172865600	Active TSS	H9 Cell Line	embryonic stem cell
5	chr2:172864000-172865600	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr2:172864000-172865800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr2:172864000-172865800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
8	chr2:172864000-172865800	Active TSS	A549	lung
9	chr2:172864200-172865400	Active TSS	Breast Myoepithelial Primary Cells	Breast
10	chr2:172864200-172865400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr2:172864200-172865400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
12	chr2:172864200-172865400	Active TSS	Fetal Brain Male	brain
13	chr2:172864200-172865400	Active TSS	Stomach Smooth Muscle	stomach
14	chr2:172864200-172865600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr2:172864200-172865600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr2:172864200-172865600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr2:172864200-172865600	Active TSS	Fetal Brain Female	brain
18	chr2:172864200-172865600	Active TSS	Fetal Muscle Trunk	muscle
19	chr2:172864200-172865600	Active TSS	Ovary	ovary
20	chr2:172864200-172865600	Active TSS	Psoas Muscle	Psoas
21	chr2:172864200-172865600	Active TSS	Right Atrium	heart
22	chr2:172864200-172865600	Active TSS	HSMMtube	muscle
23	chr2:172864200-172865600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
24	chr2:172864200-172866000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr2:172864400-172865400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr2:172864400-172865400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr2:172864400-172865400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr2:172864400-172865400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr2:172864400-172865400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr2:172864400-172865400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
31	chr2:172864400-172865400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr2:172864400-172865400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr2:172864400-172865400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
34	chr2:172864400-172865400	Active TSS	Aorta	Aorta
35	chr2:172864400-172865400	Active TSS	Brain Hippocampus Middle	brain
36	chr2:172864400-172865400	Active TSS	Esophagus	oesophagus
37	chr2:172864400-172865400	Active TSS	Fetal Heart	heart
38	chr2:172864400-172865400	Active TSS	Gastric	stomach
39	chr2:172864400-172865400	Active TSS	Left Ventricle	heart
40	chr2:172864400-172865400	Active TSS	Lung	lung
41	chr2:172864400-172865400	Active TSS	Pancreas	Pancrea
42	chr2:172864400-172865400	Active TSS	Small Intestine	intestine
43	chr2:172864400-172865400	Active TSS	NHDF-Ad	bronchial
44	chr2:172864400-172865600	Active TSS	Muscle Satellite Cultured Cells	--
45	chr2:172864400-172865600	Active TSS	Fetal Intestine Large	intestine
46	chr2:172864400-172865600	Active TSS	Right Ventricle	heart
47	chr2:172864400-172865600	Active TSS	Thymus	Thymus
48	chr2:172864400-172865800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr2:172864400-172865800	Active TSS	Fetal Stomach	stomach
50	chr2:172864400-172865800	Active TSS	K562	blood

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