Variant report

Variant	rs4344355
Chromosome Location	chr1:63153953-63153954
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	SIN3AK20	chr1:63153654-63154392	SK-N-SH	brain:	n/a	n/a
2	MXI1	chr1:63153126-63154533	HepG2	liver:	n/a	n/a
3	POLR2A	chr1:63153602-63154334	HUVEC	blood vessel:	n/a	n/a
4	ETS1	chr1:63153742-63154324	K562	blood:	n/a	chr1:63154135-63154146
5	CREB1	chr1:63153100-63154478	HepG2	liver:	n/a	n/a
6	POLR2A	chr1:63153793-63154500	H1-hESC	embryonic stem cell:	n/a	n/a
7	MAX	chr1:63153107-63154479	K562	blood:	n/a	n/a
8	POLR2A	chr1:63153843-63154345	SK-N-SH	brain:	n/a	n/a
9	YY1	chr1:63153787-63154329	GM12891	blood:	n/a	n/a
10	MYC	chr1:63153606-63154616	K562	blood:	n/a	n/a
11	POLR2A	chr1:63153952-63154402	K562	blood:	n/a	n/a
12	TAF1	chr1:63153730-63154374	GM12878	blood:	n/a	n/a
13	POLR2A	chr1:63153736-63154451	HepG2	liver:	n/a	n/a
14	MAX	chr1:63153800-63154405	SK-N-SH	brain:	n/a	n/a
15	POLR2A	chr1:63153814-63154598	PBDE	blood:	n/a	n/a
16	POLR2A	chr1:63153586-63154671	IMR90	lung:	n/a	n/a
17	POLR2A	chr1:63153544-63154404	K562	blood:	n/a	n/a
18	ELF1	chr1:63153139-63154444	GM12878	blood:	n/a	chr1:63154041-63154053
19	UBTF	chr1:63153079-63154492	K562	blood:	n/a	n/a
20	RAD21	chr1:63153939-63154433	SK-N-SH_RA	brain:	n/a	n/a
21	ARID3A	chr1:63153903-63154123	HepG2	liver:	n/a	n/a
22	POLR2A	chr1:63153877-63154373	HUVEC	blood vessel:	n/a	n/a
23	POU2F2	chr1:63153866-63154046	GM12878	blood:	n/a	n/a
24	POLR2A	chr1:63153567-63154324	Gliobla	brain:	n/a	n/a
25	YY1	chr1:63153741-63154397	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr1:63153714-63154271	GM12878	blood:	n/a	n/a
27	POLR2A	chr1:63153073-63154799	Hela-S3	cervix:	n/a	n/a
28	MAX	chr1:63153795-63154420	A549	lung:	n/a	n/a
29	REST	chr1:63153952-63154231	SK-N-SH	brain:	n/a	chr1:63153977-63153987 chr1:63154116-63154136 chr1:63154134-63154147
30	ZNF143	chr1:63153054-63154392	GM12878	blood:	n/a	chr1:63153685-63153695 chr1:63154059-63154077 chr1:63154131-63154149
31	POLR2A	chr1:63153879-63154320	HepG2	liver:	n/a	n/a
32	ELF1	chr1:63153732-63154282	GM12878	blood:	n/a	chr1:63154041-63154053
33	TCF7L2	chr1:63153935-63154750	Hela-S3	cervix:	n/a	n/a
34	MAZ	chr1:63153766-63154331	HepG2	liver:	n/a	n/a
35	POLR2A	chr1:63153206-63154513	GM18951	blood:	n/a	n/a
36	HEY1	chr1:63153914-63154421	K562	blood:	n/a	n/a
37	YY1	chr1:63153699-63154408	K562	blood:	n/a	n/a
38	POLR2A	chr1:63153817-63154285	A549	lung:	n/a	n/a
39	HA-E2F1	chr1:63153751-63154568	MCF-7	breast:	n/a	chr1:63153796-63153806
40	SIN3AK20	chr1:63153538-63154345	PANC-1	pancreas:	n/a	n/a
41	TAF1	chr1:63153690-63154529	H1-neurons	neurons:	n/a	n/a
42	POLR2A	chr1:63153769-63154541	U87	brain:	n/a	n/a
43	RFX5	chr1:63153935-63154516	Hela-S3	cervix:	n/a	n/a
44	POLR2A	chr1:63152914-63154755	H1-neurons	neurons:	n/a	n/a
45	BHLHE40	chr1:63153813-63154292	GM12878	blood:	n/a	n/a
46	POLR2A	chr1:63153772-63154273	HepG2	liver:	n/a	n/a
47	ZNF143	chr1:63153937-63154332	K562	blood:	n/a	chr1:63154059-63154077 chr1:63154131-63154149
48	FOSL1	chr1:63153839-63154346	H1-hESC	embryonic stem cell:	n/a	n/a
49	ZEB1	chr1:63153745-63154285	GM12878	blood:	n/a	n/a
50	POLR2A	chr1:63153653-63154468	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:63151590..63154458-chr1:63248689..63250715,2	K562	blood:
2	chr1:63151590..63154458-chr1:63248689..63251365,3	K562	blood:

Variant related genes	Relation type
DOCK7	TF binding region
ENSG00000235545	TF binding region
ENSG00000125703	Chromatin interaction

Extended variants
information (count: 104 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:101)

rs_ID	r²[population]
rs10157265	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10159255	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10789113	0.82[AMR][1000 genomes]
rs10789117	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10789118	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10789119	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10789120	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10889338	0.80[AMR][1000 genomes]
rs10889343	0.86[EUR][1000 genomes]
rs10889344	0.86[EUR][1000 genomes]
rs10889347	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10889348	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10889349	0.86[EUR][1000 genomes]
rs10889350	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10889352	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10889353	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10889354	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10889356	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10889357	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10889360	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11207980	0.80[AMR][1000 genomes]
rs11207982	0.82[AMR][1000 genomes]
rs11207990	0.86[EUR][1000 genomes]
rs11207992	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11207994	0.85[AMR][1000 genomes]
rs11207995	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11207996	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11207997	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11207999	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11208000	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11208001	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11208004	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11208007	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11485618	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1168085	0.88[EUR][1000 genomes]
rs1168086	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1168089	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1168093	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1168097	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1168098	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1168099	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1168102	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1168103	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1168107	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1168113	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1168114	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1168124	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1168128	0.80[EUR][1000 genomes]
rs1168132	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12025800	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12038768	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12042319	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12047226	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12116574	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12136083	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12239736	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12239737	0.86[AMR][1000 genomes]
rs1472257	0.86[EUR][1000 genomes]
rs1570694	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1629122	0.85[EUR][1000 genomes]
rs1748195	0.85[EUR][1000 genomes]
rs1748197	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1748199	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1748200	0.85[EUR][1000 genomes]
rs1748201	0.85[EUR][1000 genomes]
rs2029763	0.82[AMR][1000 genomes]
rs2131925	0.86[EUR][1000 genomes]
rs2131926	0.86[EUR][1000 genomes]
rs2366636	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2366638	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2479464	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28399032	0.96[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs34152715	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3850634	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4329540	0.86[EUR][1000 genomes]
rs4409689	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4459145	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4495740	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4587594	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61471917	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6587980	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6657050	0.81[AMR][1000 genomes]
rs6666816	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6675401	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6678483	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6682423	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6686331	0.84[EUR][1000 genomes]
rs6690733	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6693353	0.82[EUR][1000 genomes]
rs6696502	0.86[EUR][1000 genomes]
rs746735	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7518497	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7519785	0.85[EUR][1000 genomes]
rs7520810	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7531579	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7539035	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs880694	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9787151	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9787156	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs993013	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs995000	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014376	chr1:62976472-63181359	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	esv3443740	chr1:63152389-63155337	Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
3	esv3437839	chr1:63152564-63156062	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:63151800-63155200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr1:63152200-63154800	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr1:63152200-63155000	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr1:63152200-63155200	Active TSS	NHLF	lung
5	chr1:63152200-63155400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
6	chr1:63152400-63154400	Active TSS	Breast Myoepithelial Primary Cells	Breast
7	chr1:63152400-63154800	Active TSS	Brain Inferior Temporal Lobe	brain
8	chr1:63152400-63154800	Active TSS	Fetal Muscle Trunk	muscle
9	chr1:63152400-63154800	Active TSS	Psoas Muscle	Psoas
10	chr1:63152400-63155200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr1:63152600-63154600	Active TSS	Fetal Intestine Small	intestine
12	chr1:63152600-63154600	Active TSS	HSMMtube	muscle
13	chr1:63152600-63154800	Active TSS	Fetal Intestine Large	intestine
14	chr1:63152600-63155000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:63152600-63155000	Active TSS	Brain Anterior Caudate	brain
16	chr1:63152600-63155000	Active TSS	Rectal Mucosa Donor 29	rectum
17	chr1:63152600-63155000	Active TSS	NHDF-Ad	bronchial
18	chr1:63152600-63155200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr1:63152600-63155400	Active TSS	Fetal Stomach	stomach
20	chr1:63152600-63155600	Active TSS	Duodenum Mucosa	Duodenum
21	chr1:63152800-63154200	Active TSS	Rectal Smooth Muscle	rectum
22	chr1:63152800-63154400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr1:63152800-63154400	Active TSS	Brain Hippocampus Middle	brain
24	chr1:63152800-63154400	Active TSS	Fetal Muscle Leg	muscle
25	chr1:63152800-63154600	Active TSS	Primary T cells from cord blood	blood
26	chr1:63152800-63154800	Active TSS	Brain Cingulate Gyrus	brain
27	chr1:63152800-63154800	Active TSS	Thymus	Thymus
28	chr1:63152800-63154800	Active TSS	HSMM	muscle
29	chr1:63152800-63155000	Active TSS	H1 Cell Line	embryonic stem cell
30	chr1:63152800-63155000	Active TSS	iPS-15b Cell Line	embryonic stem cell
31	chr1:63152800-63155000	Active TSS	Fetal Brain Female	brain
32	chr1:63152800-63155200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr1:63152800-63155200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr1:63152800-63155200	Active TSS	Muscle Satellite Cultured Cells	--
35	chr1:63152800-63155200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr1:63152800-63155200	Active TSS	Duodenum Smooth Muscle	Duodenum
37	chr1:63152800-63155200	Active TSS	Fetal Kidney	kidney
38	chr1:63152800-63155200	Active TSS	Stomach Mucosa	stomach
39	chr1:63152800-63155400	Active TSS	ES-I3 Cell Line	embryonic stem cell
40	chr1:63152800-63155600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr1:63152800-63155600	Active TSS	HUES48 Cell Line	embryonic stem cell
42	chr1:63152800-63155600	Active TSS	iPS-20b Cell Line	embryonic stem cell
43	chr1:63152800-63156200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr1:63153000-63154000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
45	chr1:63153000-63154200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
46	chr1:63153000-63154200	Active TSS	Rectal Mucosa Donor 31	rectum
47	chr1:63153000-63154400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
48	chr1:63153000-63154400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
49	chr1:63153000-63154400	Active TSS	Primary T killer memory cells from peripheral blood	blood
50	chr1:63153000-63154600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived

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