Variant report

Variant	rs370535610
Chromosome Location	chr11:94227336-94227337
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	POLR2A	chr11:94226530-94227547	PFSK-1	brain:	n/a	n/a
2	POLR2A	chr11:94226435-94227680	HL-60	blood:	n/a	n/a
3	ELF1	chr11:94226583-94227576	HepG2	liver:	n/a	chr11:94227159-94227168 chr11:94227158-94227169 chr11:94227158-94227169
4	SIN3AK20	chr11:94227022-94227367	H1-hESC	embryonic stem cell:	n/a	n/a
5	MAFF	chr11:94226806-94227397	HepG2	liver:	n/a	n/a
6	RFX5	chr11:94226779-94227375	HepG2	liver:	n/a	chr11:94227065-94227074
7	MAX	chr11:94226802-94227462	MCF-7	breast:	n/a	chr11:94227113-94227123 chr11:94227087-94227097
8	ZBTB33	chr11:94226620-94227453	A549	lung:	n/a	chr11:94227016-94227025
9	ZNF143	chr11:94226488-94227700	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr11:94226627-94227619	MCF-7	breast:	n/a	n/a
11	TEAD4	chr11:94226420-94227402	HepG2	liver:	n/a	n/a
12	SIN3AK20	chr11:94226324-94227554	SK-N-SH	brain:	n/a	n/a
13	SIN3AK20	chr11:94226625-94227584	MCF-7	breast:	n/a	n/a
14	RCOR1	chr11:94226575-94227772	K562	blood:	n/a	n/a
15	ELF1	chr11:94226897-94227523	K562	blood:	n/a	chr11:94227159-94227168 chr11:94227158-94227169 chr11:94227158-94227169
16	TCF12	chr11:94226334-94227561	ECC-1	luminal epithelium:	n/a	n/a
17	TFAP2C	chr11:94226527-94227567	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr11:94226526-94227453	GM12878	blood:	n/a	n/a
19	TAF1	chr11:94226560-94227450	K562	blood:	n/a	n/a
20	RUNX3	chr11:94226451-94227456	GM12878	blood:	n/a	n/a
21	MAX	chr11:94226192-94227517	ECC-1	luminal epithelium:	n/a	chr11:94226548-94226567 chr11:94226552-94226562 chr11:94226551-94226561 chr11:94226552-94226563 chr11:94226553-94226562 chr11:94226553-94226563 chr11:94226549-94226564 chr11:94227113-94227123 chr11:94226554-94226563 chr11:94226552-94226563 chr11:94226552-94226563 chr11:94226551-94226564 chr11:94226553-94226560 chr11:94226551-94226564 chr11:94227087-94227097 chr11:94226552-94226561
22	ZNF143	chr11:94226839-94227561	K562	blood:	n/a	n/a
23	POLR2A	chr11:94226509-94227564	K562	blood:	n/a	n/a
24	ZNF143	chr11:94226542-94227664	Hela-S3	cervix:	n/a	n/a
25	CHD2	chr11:94226388-94227648	Hela-S3	cervix:	n/a	chr11:94227016-94227025
26	YY1	chr11:94226822-94227430	SK-N-SH_RA	brain:	n/a	chr11:94227089-94227098
27	GATA3	chr11:94226771-94227453	T-47D	breast:	n/a	n/a
28	TBP	chr11:94226421-94227606	H1-hESC	embryonic stem cell:	n/a	n/a
29	YY1	chr11:94226740-94227524	GM12892	blood:	n/a	chr11:94227089-94227098
30	EP300	chr11:94226308-94227360	K562	blood:	n/a	chr11:94227158-94227172 chr11:94227161-94227168
31	POLR2A	chr11:94226497-94227456	HEK293	kidney:	n/a	n/a
32	E2F6	chr11:94226430-94227459	K562	blood:	n/a	chr11:94227089-94227101 chr11:94227089-94227098 chr11:94226468-94226477
33	POU2F2	chr11:94226736-94227465	GM12878	blood:	n/a	n/a
34	TAF1	chr11:94226558-94227628	H1-neurons	neurons:	n/a	n/a
35	POLR2A	chr11:94226584-94227556	GM18951	blood:	n/a	n/a
36	CTCF	chr11:94227300-94227450	SK-N-SH_RA	brain:	n/a	chr11:94227410-94227423 chr11:94227306-94227314
37	POLR2A	chr11:94226328-94227665	MCF10A-Er-Src	breast:	n/a	n/a
38	STAT5A	chr11:94226769-94227634	GM12878	blood:	n/a	n/a
39	MAX	chr11:94226247-94227565	ECC-1	luminal epithelium:	n/a	chr11:94226548-94226567 chr11:94226552-94226562 chr11:94226551-94226561 chr11:94226552-94226563 chr11:94226553-94226562 chr11:94226553-94226563 chr11:94226549-94226564 chr11:94227113-94227123 chr11:94226554-94226563 chr11:94226552-94226563 chr11:94226552-94226563 chr11:94226551-94226564 chr11:94226553-94226560 chr11:94226551-94226564 chr11:94227087-94227097 chr11:94226552-94226561
40	MAX	chr11:94226393-94227373	A549	lung:	n/a	chr11:94226548-94226567 chr11:94226552-94226562 chr11:94226551-94226561 chr11:94226552-94226563 chr11:94226553-94226562 chr11:94226553-94226563 chr11:94226549-94226564 chr11:94227113-94227123 chr11:94226554-94226563 chr11:94226552-94226563 chr11:94226552-94226563 chr11:94226551-94226564 chr11:94226553-94226560 chr11:94226551-94226564 chr11:94227087-94227097 chr11:94226552-94226561
41	POLR2A	chr11:94226430-94227605	GM12878	blood:	n/a	n/a
42	TAF1	chr11:94226366-94227567	Hela-S3	cervix:	n/a	n/a
43	POLR2A	chr11:94226514-94227550	GM15510	blood:	n/a	n/a
44	POLR2A	chr11:94226634-94227464	K562	blood:	n/a	n/a
45	ZBTB7A	chr11:94227126-94227528	K562	blood:	n/a	n/a
46	MAZ	chr11:94226494-94227377	GM12878	blood:	n/a	chr11:94226548-94226567 chr11:94226552-94226562 chr11:94226552-94226563 chr11:94226553-94226562 chr11:94226553-94226563 chr11:94226549-94226564 chr11:94227113-94227123 chr11:94226554-94226563 chr11:94226552-94226563 chr11:94226552-94226563 chr11:94226551-94226564 chr11:94226553-94226560 chr11:94226551-94226564 chr11:94227087-94227097 chr11:94226552-94226561
47	HCFC1	chr11:94225753-94227860	Hela-S3	cervix:	n/a	n/a
48	CTCF	chr11:94227320-94227470	AG04449	skin:	n/a	chr11:94227410-94227423
49	CCNT2	chr11:94227031-94227510	K562	blood:	n/a	chr11:94227089-94227098
50	REST	chr11:94226293-94227954	H1-neurons	neurons:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:94227320-94227370	HCT-116	colon:	n/a
2	chr11:94227320-94227370	MCF10A-Er-Src	breast:	n/a
3	chr11:94227320-94227370	HAEpiC	amniotic membrane:	n/a
4	chr11:94227320-94227370	GM12878	blood:	n/a
5	chr11:94227320-94227370	AG04450	lung:	fetal
6	chr11:94227320-94227370	SKMC	muscle:	n/a
7	chr11:94227320-94227370	HNPCEpiC	eye:	n/a
8	chr11:94227320-94227370	AG09309	skin:	n/a
9	chr11:94227320-94227370	SK-N-SH	brain:	n/a
10	chr11:94227320-94227370	HCF	heart:	n/a
11	chr11:94227320-94227370	NH-A	brain:	n/a
12	chr11:94227320-94227370	HRE	kidney:	n/a
13	chr11:94227320-94227370	NHBE	bronchial:	n/a
14	chr11:94227320-94227370	GM19239	blood:	n/a
15	chr11:94227320-94227370	NHDF-neo	bronchial:	n/a
16	chr11:94227320-94227370	HUVEC	blood vessel:	n/a
17	chr11:94227320-94227370	BE2_C	brain:	n/a
18	chr11:94227320-94227370	HCPEpiC	choroid plexus:	n/a
19	chr11:94227320-94227370	RPTEC	kidney:	n/a
20	chr11:94227320-94227370	MCF-7	breast:	n/a
21	chr11:94227320-94227370	HCM	heart:	n/a
22	chr11:94227320-94227370	CMK	blood:	n/a
23	chr11:94227320-94227370	HL-60	blood:	n/a
24	chr11:94227320-94227370	ProgFib	skin:	n/a
25	chr11:94227320-94227370	ovcar-3	ovarian:	n/a
26	chr11:94227320-94227370	AoSMC	blood vessel:	n/a
27	chr11:94227320-94227370	HIPEpiC	eye:	n/a
28	chr11:94227320-94227370	SK-N-SH_RA	brain:	n/a
29	chr11:94227320-94227370	GM06990	blood:	n/a
30	chr11:94227320-94227370	AG10803	skin:	n/a
31	chr11:94227320-94227370	HMEC	breast:	n/a
32	chr11:94227320-94227370	HEK293	kidney:	embryo
33	chr11:94227320-94227370	HRPEpiC	eye:	n/a
34	chr11:94227320-94227370	K562	blood:	n/a
35	chr11:94227320-94227370	GM12891	blood:	n/a
36	chr11:94227320-94227370	ECC-1	luminal epithelium:	n/a
37	chr11:94227320-94227370	NB4	blood:	n/a
38	chr11:94227320-94227370	Hela-S3	cervix:	n/a
39	chr11:94227320-94227370	PFSK-1	brain:	n/a
40	chr11:94227320-94227370	HRCEpiC	kidney:	n/a
41	chr11:94227320-94227370	HPAEpiC	pulmonary alveolar:	n/a
42	chr11:94227320-94227370	IMR90	lung:	fetal
43	chr11:94227320-94227370	Jurkat	blood:	n/a
44	chr11:94227320-94227370	T-47D	breast:	n/a
45	chr11:94227320-94227370	HEEpiC	esophagus:	n/a
46	chr11:94227320-94227370	NT2-D1	testis:	n/a
47	chr11:94227320-94227370	U87	brain:	n/a
48	chr11:94227320-94227370	AG04449	skin:	fetal
49	chr11:94227320-94227370	Hepatocyte	liver:	n/a
50	chr11:94227320-94227370	AG09319	gingival:	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:93473689..93475609-chr11:94224502..94227416,2	K562	blood:
2	chr11:94226771..94229140-chr11:94275887..94279295,4	K562	blood:
3	chr11:94225979..94229384-chr11:94230397..94235421,9	K562	blood:
4	chr11:94225466..94228271-chr11:94275709..94278301,3	K562	blood:
5	chr11:94226700..94227357-chr19:7293430..7294141,2	Hela-S3	cervix:
6	chr11:94180184..94182302-chr11:94227182..94229296,2	K562	blood:
7	chr11:94226137..94228706-chr11:94300541..94302920,2	K562	blood:
8	chr11:93860234..93863458-chr11:94225545..94228425,3	K562	blood:
9	chr11:93914625..93916953-chr11:94227203..94228744,2	MCF-7	breast:

Variant related genes	Relation type
ANKRD49	TF binding region
MRE11A	TF binding region
MRE11A	CpG island
ANKRD49	CpG island
ENSG00000166012	Chromatin interaction
ENSG00000020922	Chromatin interaction
ENSG00000110218	Chromatin interaction
ENSG00000196371	Chromatin interaction
ENSG00000171105	Chromatin interaction
ENSG00000168876	Chromatin interaction
ENSG00000134627	Chromatin interaction
ENSG00000182919	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1795745	chr11:94144987-94227993	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	esv1798271	chr11:94144987-94227993	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	esv1797582	chr11:94182992-94227993	Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
4	esv1800372	chr11:94182992-94227993	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
5	esv1794580	chr11:94224060-94227993	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
6	esv1796910	chr11:94224060-94227993	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
7	esv1796644	chr11:94226595-94227670	Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	12 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	chr11:94225400-94227600	Active TSS	Primary hematopoietic stem cells short term culture	blood
2	chr11:94225400-94228200	Active TSS	HUES48 Cell Line	embryonic stem cell
3	chr11:94225600-94228000	Active TSS	GM12878-XiMat	blood
4	chr11:94225600-94228000	Active TSS	K562	blood
5	chr11:94225600-94228200	Active TSS	iPS-15b Cell Line	embryonic stem cell
6	chr11:94225600-94228200	Active TSS	A549	lung
7	chr11:94225600-94228600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr11:94225800-94227800	Active TSS	H9 Cell Line	embryonic stem cell
9	chr11:94225800-94228000	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr11:94225800-94228000	Active TSS	HUES64 Cell Line	embryonic stem cell
11	chr11:94225800-94228000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
12	chr11:94225800-94228000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr11:94225800-94228000	Active TSS	Hela-S3	cervix
14	chr11:94225800-94228200	Active TSS	Right Atrium	heart
15	chr11:94225800-94228400	Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr11:94226000-94227600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr11:94226000-94227600	Active TSS	Fetal Stomach	stomach
18	chr11:94226000-94227600	Active TSS	Thymus	Thymus
19	chr11:94226000-94227600	Active TSS	NH-A	brain
20	chr11:94226000-94227800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
21	chr11:94226000-94227800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr11:94226000-94227800	Active TSS	Muscle Satellite Cultured Cells	--
23	chr11:94226000-94227800	Active TSS	Colonic Mucosa	Colon
24	chr11:94226000-94227800	Active TSS	Fetal Intestine Large	intestine
25	chr11:94226000-94227800	Active TSS	Fetal Muscle Trunk	muscle
26	chr11:94226000-94227800	Active TSS	Ovary	ovary
27	chr11:94226000-94228000	Active TSS	H1 Cell Line	embryonic stem cell
28	chr11:94226000-94228000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr11:94226000-94228000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr11:94226000-94228000	Active TSS	Fetal Thymus	thymus
31	chr11:94226000-94228000	Active TSS	Stomach Mucosa	stomach
32	chr11:94226000-94228200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr11:94226000-94228200	Active TSS	iPS-20b Cell Line	embryonic stem cell
34	chr11:94226000-94228200	Active TSS	NHLF	lung
35	chr11:94226000-94228400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr11:94226000-94228400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr11:94226200-94227600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr11:94226200-94227600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr11:94226200-94227600	Active TSS	Duodenum Smooth Muscle	Duodenum
40	chr11:94226200-94227600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
41	chr11:94226200-94227600	Active TSS	Fetal Brain Male	brain
42	chr11:94226200-94227600	Active TSS	Dnd41	blood
43	chr11:94226200-94227800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr11:94226200-94227800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr11:94226200-94227800	Active TSS	iPS-18 Cell Line	embryonic stem cell
46	chr11:94226200-94227800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr11:94226200-94227800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
48	chr11:94226200-94227800	Active TSS	Aorta	Aorta
49	chr11:94226200-94227800	Active TSS	Placenta	Placenta
50	chr11:94226200-94227800	Active TSS	Right Ventricle	heart

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