Variant report

Variant	rs4646953
Chromosome Location	chr10:94333955-94333956
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	BRCA1	chr10:94333544-94334410	GM12878	blood:	n/a	n/a
2	PML	chr10:94333540-94334376	MCF-7	breast:	n/a	n/a
3	RELA	chr10:94333625-94334764	GM19099	blood:	n/a	n/a
4	MYC	chr10:94333723-94334047	H1-hESC	embryonic stem cell:	n/a	n/a
5	MYC	chr10:94333435-94334422	HepG2	liver:	n/a	chr10:94334346-94334355
6	GABPA	chr10:94333322-94334004	K562	blood:	n/a	chr10:94333841-94333855 chr10:94333844-94333855 chr10:94333669-94333676
7	POLR2A	chr10:94333299-94334075	U87	brain:	n/a	n/a
8	STAT1	chr10:94333351-94334428	GM12878	blood:	n/a	n/a
9	POLR2A	chr10:94332936-94334384	MCF10A-Er-Src	breast:	n/a	n/a
10	REST	chr10:94333775-94334109	PANC-1	pancreas:	n/a	chr10:94333870-94333888 chr10:94333957-94333966 chr10:94333877-94333887
11	TAF1	chr10:94333467-94334451	PFSK-1	brain:	n/a	n/a
12	FOSL2	chr10:94333294-94334509	SK-N-SH	brain:	n/a	chr10:94333898-94333912 chr10:94334026-94334037
13	CREB1	chr10:94333458-94334563	H1-hESC	embryonic stem cell:	n/a	n/a
14	TBP	chr10:94333643-94334656	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr10:94333511-94334374	GM12891	blood:	n/a	n/a
16	HEY1	chr10:94333322-94334486	HepG2	liver:	n/a	chr10:94333521-94333536 chr10:94333854-94333869
17	STAT1	chr10:94332630-94334478	Hela-S3	cervix:	n/a	chr10:94333221-94333233 chr10:94333011-94333022
18	TAL1	chr10:94333706-94334268	K562	blood:	n/a	n/a
19	POLR2A	chr10:94333131-94334412	GM12892	blood:	n/a	n/a
20	TAF7	chr10:94333498-94334363	H1-hESC	embryonic stem cell:	n/a	n/a
21	JUND	chr10:94333196-94334557	A549	lung:	n/a	chr10:94333898-94333912 chr10:94334026-94334037
22	HEY1	chr10:94333248-94334482	K562	blood:	n/a	chr10:94333521-94333536 chr10:94333854-94333869
23	POLR2A	chr10:94332713-94334572	HUVEC	blood vessel:	n/a	n/a
24	POLR2A	chr10:94333334-94334365	GM10847	blood:	n/a	n/a
25	SIN3AK20	chr10:94333329-94334359	MCF-7	breast:	n/a	n/a
26	POLR2A	chr10:94333449-94334401	SK-N-MC	brain:	n/a	n/a
27	YY1	chr10:94333504-94334455	GM12878	blood:	n/a	chr10:94333575-94333589 chr10:94333573-94333584 chr10:94333648-94333662
28	POLR2A	chr10:94333477-94334353	A549	lung:	n/a	n/a
29	STAT5A	chr10:94333794-94334397	K562	blood:	n/a	n/a
30	POLR2A	chr10:94332846-94334444	GM18505	blood:	n/a	n/a
31	TCF12	chr10:94333822-94334014	H1-hESC	embryonic stem cell:	n/a	n/a
32	MAFK	chr10:94333416-94334402	HepG2	liver:	n/a	chr10:94333592-94333603 chr10:94333591-94333606 chr10:94333592-94333612 chr10:94333596-94333605
33	HDAC2	chr10:94333471-94334489	MCF-7	breast:	n/a	n/a
34	TAF1	chr10:94333124-94334593	ECC-1	luminal epithelium:	n/a	n/a
35	MAX	chr10:94332654-94334664	A549	lung:	n/a	chr10:94334346-94334355 chr10:94333410-94333419
36	RUNX3	chr10:94332805-94334569	GM12878	blood:	n/a	n/a
37	CHD1	chr10:94333461-94334645	H1-hESC	embryonic stem cell:	n/a	chr10:94334115-94334125
38	ZNF143	chr10:94333783-94334642	K562	blood:	n/a	n/a
39	MAX	chr10:94333065-94334620	HepG2	liver:	n/a	chr10:94334346-94334355 chr10:94333410-94333419
40	POLR2A	chr10:94332735-94334565	Hela-S3	cervix:	n/a	n/a
41	MAX	chr10:94333374-94334547	K562	blood:	n/a	chr10:94334346-94334355 chr10:94333410-94333419
42	RAD21	chr10:94333299-94334634	HCT-116	colon:	n/a	chr10:94334366-94334376
43	MYC	chr10:94333471-94334448	K562	blood:	n/a	chr10:94334346-94334355
44	GATA1	chr10:94332030-94334836	PBDE	blood:	n/a	chr10:94334273-94334284 chr10:94332190-94332207 chr10:94334317-94334328
45	POLR2A	chr10:94333559-94334415	K562	blood:	n/a	n/a
46	YY1	chr10:94333293-94334013	K562	blood:	n/a	chr10:94333575-94333589 chr10:94333573-94333584 chr10:94333648-94333662 chr10:94333382-94333396 chr10:94333379-94333390
47	EP300	chr10:94333644-94334407	GM12878	blood:	n/a	chr10:94333857-94333873
48	FOXP2	chr10:94333245-94334372	PFSK-1	brain:	n/a	n/a
49	POLR2A	chr10:94333572-94334176	GM12892	blood:	n/a	n/a
50	STAT5A	chr10:94333584-94334271	GM12878	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:94333937-94333987	AG04449	skin:	fetal
2	chr10:94333943-94333993	SK-N-SH	brain:	n/a
3	chr10:94333943-94333993	SK-N-SH_RA	brain:	n/a
4	chr10:94333943-94333993	AG09309	skin:	n/a
5	chr10:94333922-94333972	HMEC	breast:	n/a
6	chr10:94333937-94333987	NHBE	bronchial:	n/a
7	chr10:94333937-94333987	MCF10A-Er-Src	breast:	n/a
8	chr10:94333943-94333993	AoSMC	blood vessel:	n/a
9	chr10:94333943-94333993	HMEC	breast:	n/a
10	chr10:94333937-94333987	AG04450	lung:	fetal
11	chr10:94333937-94333987	GM12878	blood:	n/a
12	chr10:94333922-94333972	RPTEC	kidney:	n/a
13	chr10:94333937-94333987	NB4	blood:	n/a
14	chr10:94333943-94333993	PANC-1	pancreas:	n/a
15	chr10:94333922-94333972	AG09319	gingival:	n/a
16	chr10:94333937-94333987	Hela-S3	cervix:	n/a
17	chr10:94333943-94333993	K562	blood:	n/a
18	chr10:94333922-94333972	GM12892	blood:	n/a
19	chr10:94333937-94333987	PFSK-1	brain:	n/a
20	chr10:94333937-94333987	HCF	heart:	n/a
21	chr10:94333922-94333972	IMR90	lung:	fetal
22	chr10:94333937-94333987	HEK293	kidney:	embryo
23	chr10:94333922-94333972	Hepatocyte	liver:	n/a
24	chr10:94333922-94333972	A549	lung:	n/a
25	chr10:94333922-94333972	Jurkat	blood:	n/a
26	chr10:94333943-94333993	GM12891	blood:	n/a
27	chr10:94333943-94333993	IMR90	lung:	fetal
28	chr10:94333943-94333993	ECC-1	luminal epithelium:	n/a
29	chr10:94333922-94333972	HAEpiC	amniotic membrane:	n/a
30	chr10:94333937-94333987	PrEC	prostate:	n/a
31	chr10:94333922-94333972	SK-N-SH	brain:	n/a
32	chr10:94333937-94333987	SK-N-SH_RA	brain:	n/a
33	chr10:94333922-94333972	HUVEC	blood vessel:	n/a
34	chr10:94333922-94333972	LNCaP	prostate:	n/a
35	chr10:94333937-94333987	Jurkat	blood:	n/a
36	chr10:94333922-94333972	BJ	skin:	n/a
37	chr10:94333943-94333993	SAEC	small airway:	n/a
38	chr10:94333922-94333972	AG04450	lung:	fetal
39	chr10:94333937-94333987	BE2_C	brain:	n/a
40	chr10:94333943-94333993	GM12892	blood:	n/a
41	chr10:94333937-94333987	AG10803	skin:	n/a
42	chr10:94333922-94333972	SAEC	small airway:	n/a
43	chr10:94333922-94333972	HNPCEpiC	eye:	n/a
44	chr10:94333922-94333972	T-47D	breast:	n/a
45	chr10:94333937-94333987	HCT-116	colon:	n/a
46	chr10:94333922-94333972	H1-hESC	embryonic stem cell:	embryo
47	chr10:94333937-94333987	SKMC	muscle:	n/a
48	chr10:94333937-94333987	GM19239	blood:	n/a
49	chr10:94333937-94333987	GM06990	blood:	n/a
50	chr10:94333922-94333972	HRPEpiC	eye:	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:94333599..94334233-chr11:62608717..62609626,2	HCT-116	colon:
2	chr10:94301008..94306280-chr10:94330329..94333980,6	MCF-7	breast:
3	chr10:94327650..94337583-chr10:94349444..94356782,22	K562	blood:
4	chr10:94300885..94308768-chr10:94330971..94336052,7	K562	blood:
5	chr10:94330286..94336827-chr10:94349891..94354260,15	K562	blood:
6	chr1:144533810..144534317-chr10:94333569..94334332,2	Hela-S3	cervix:
7	chr10:94333702..94334335-chr4:175204172..175204860,2	Hela-S3	cervix:
8	chr10:94332371..94335153-chr10:94446165..94448467,2	K562	blood:
9	chr10:94333800..94334332-chr19:16187161..16187876,2	Hela-S3	cervix:
10	chr10:94332956..94335217-chr10:94607050..94609174,2	MCF-7	breast:
11	chr10:94332262..94336114-chr10:94349834..94354042,11	MCF-7	breast:
12	chr10:94333639..94335354-chr10:94637611..94639541,2	MCF-7	breast:
13	chr10:94333918..94334774-chr4:119735576..119736271,2	MCF-7	breast:
14	chr10:94332407..94336018-chr10:94349212..94353201,7	MCF-7	breast:
15	chr10:94310771..94311324-chr10:94333844..94334427,2	MCF-7	breast:
16	chr10:94333616..94336720-chr10:94448718..94451044,3	K562	blood:
17	chr10:94331601..94334574-chr10:94607928..94609540,2	MCF-7	breast:
18	chr10:94276451..94277382-chr10:94333873..94334623,6	MCF-7	breast:

Variant related genes	Relation type
IDE	TF binding region
IDE	CpG island
ENSG00000119912	Chromatin interaction
ENSG00000201699	Chromatin interaction
ENSG00000138190	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000225118	Chromatin interaction
ENSG00000138160	Chromatin interaction
ENSG00000152804	Chromatin interaction
ENSG00000164117	Chromatin interaction
ENSG00000164118	Chromatin interaction
ENSG00000167460	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10736069	0.90[AFR][1000 genomes]
rs10786050	0.90[AFR][1000 genomes]
rs10882091	0.90[AFR][1000 genomes]
rs10882094	0.90[AFR][1000 genomes]
rs11187009	0.86[ASN][1000 genomes]
rs11187025	0.81[AMR][1000 genomes]
rs11187027	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11187031	0.86[ASN][1000 genomes]
rs11187032	0.86[ASN][1000 genomes]
rs11187040	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11187064	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11187065	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11187067	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11187069	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11187070	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11187073	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12356508	0.81[AMR][1000 genomes]
rs12358677	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12776190	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17445028	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs17445328	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2421941	0.93[AFR][1000 genomes]
rs35418143	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35616984	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4646955	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4933734	0.88[AFR][1000 genomes]
rs56289118	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61861406	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6583824	0.81[AFR][1000 genomes]
rs6583827	0.90[AFR][1000 genomes]
rs6583830	0.90[AFR][1000 genomes]
rs7071905	0.90[AFR][1000 genomes]
rs7092522	0.88[AFR][1000 genomes]
rs7096101	0.90[AFR][1000 genomes]
rs72811205	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7894183	0.86[AFR][1000 genomes]
rs7900689	0.90[AFR][1000 genomes]
rs7914814	0.90[AFR][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	nsv1046258	chr10:93866969-94466106	Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	esv1792868	chr10:94232247-94409749	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	nsv895894	chr10:94249982-94452430	Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	nsv895895	chr10:94304132-94372706	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:94331400-94334600	Active TSS	A549	lung
2	chr10:94332000-94334800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr10:94332200-94334800	Active TSS	HSMM	muscle
4	chr10:94332200-94335000	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr10:94332400-94334400	Active TSS	Fetal Intestine Small	intestine
6	chr10:94332400-94334600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr10:94332400-94334600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr10:94332400-94334600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
9	chr10:94332400-94334600	Active TSS	HMEC	breast
10	chr10:94332400-94334600	Active TSS	HSMMtube	muscle
11	chr10:94332400-94334800	Active TSS	Aorta	Aorta
12	chr10:94332400-94334800	Active TSS	Colonic Mucosa	Colon
13	chr10:94332400-94335000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
14	chr10:94332400-94335000	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr10:94332600-94334400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr10:94332600-94334600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr10:94332600-94334600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr10:94332600-94334600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr10:94332600-94334800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr10:94332600-94334800	Active TSS	HUES64 Cell Line	embryonic stem cell
21	chr10:94332600-94334800	Active TSS	iPS-15b Cell Line	embryonic stem cell
22	chr10:94332600-94334800	Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr10:94332600-94334800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
24	chr10:94332600-94334800	Bivalent/Poised TSS	HepG2	liver
25	chr10:94332600-94335000	Active TSS	H1 Cell Line	embryonic stem cell
26	chr10:94332600-94335000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr10:94332600-94335000	Flanking Active TSS	Primary B cells from cord blood	blood
28	chr10:94332600-94335000	Active TSS	Stomach Mucosa	stomach
29	chr10:94332800-94334400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr10:94332800-94334400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr10:94332800-94334400	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
32	chr10:94332800-94334400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr10:94332800-94334400	Active TSS	Brain Substantia Nigra	brain
34	chr10:94332800-94334400	Active TSS	Gastric	stomach
35	chr10:94332800-94334400	Active TSS	Lung	lung
36	chr10:94332800-94334400	Active TSS	NHLF	lung
37	chr10:94332800-94334600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr10:94332800-94334600	Active TSS	HUES48 Cell Line	embryonic stem cell
39	chr10:94332800-94334600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr10:94332800-94334600	Active TSS	Primary T killer memory cells from peripheral blood	blood
41	chr10:94332800-94334600	Active TSS	Muscle Satellite Cultured Cells	--
42	chr10:94332800-94334600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr10:94332800-94334600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr10:94332800-94334600	Active TSS	Brain Angular Gyrus	brain
45	chr10:94332800-94334600	Active TSS	Brain Cingulate Gyrus	brain
46	chr10:94332800-94334600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
47	chr10:94332800-94334600	Active TSS	Colon Smooth Muscle	Colon
48	chr10:94332800-94334600	Active TSS	Duodenum Smooth Muscle	Duodenum
49	chr10:94332800-94334600	Active TSS	Fetal Kidney	kidney
50	chr10:94332800-94334600	Active TSS	Fetal Lung	lung

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