Variant report

Variant	rs568199508
Chromosome Location	chr11:77185443-77185444
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	SMC3	chr11:77184901-77185734	Hela-S3	cervix:	n/a	n/a
2	CEBPB	chr11:77185224-77186054	HepG2	liver:	n/a	n/a
3	EP300	chr11:77185231-77185617	H1-hESC	embryonic stem cell:	n/a	chr11:77185265-77185274 chr11:77185394-77185402 chr11:77185583-77185590 chr11:77185479-77185495 chr11:77185262-77185271 chr11:77185308-77185324
4	TCF12	chr11:77185203-77185457	GM12878	blood:	n/a	n/a
5	CEBPB	chr11:77185226-77185974	K562	blood:	n/a	n/a
6	BRCA1	chr11:77185296-77185590	GM12878	blood:	n/a	n/a
7	TAF1	chr11:77185229-77185664	K562	blood:	n/a	n/a
8	TCF7L2	chr11:77184931-77185524	HCT-116	colon:	n/a	n/a
9	USF1	chr11:77185167-77185684	ECC-1	luminal epithelium:	n/a	chr11:77185260-77185276 chr11:77185263-77185279 chr11:77185262-77185278
10	POLR2A	chr11:77184273-77185933	GM12891	blood:	n/a	n/a
11	TAF1	chr11:77185280-77185620	H1-hESC	embryonic stem cell:	n/a	n/a
12	MAX	chr11:77185257-77185548	HepG2	liver:	n/a	chr11:77185319-77185329
13	NFE2	chr11:77185355-77185555	GM12878	blood:	n/a	n/a
14	RELA	chr11:77184848-77185941	GM18951	blood:	n/a	n/a
15	POU2F2	chr11:77185210-77185662	GM12878	blood:	n/a	chr11:77185297-77185309 chr11:77185300-77185312 chr11:77185311-77185323
16	RELA	chr11:77184968-77185707	GM15510	blood:	n/a	n/a
17	MAX	chr11:77184484-77185596	H1-hESC	embryonic stem cell:	n/a	chr11:77185020-77185030 chr11:77185319-77185329 chr11:77185113-77185123
18	JUN	chr11:77185249-77185626	HepG2	liver:	n/a	chr11:77185296-77185305 chr11:77185301-77185310 chr11:77185446-77185455 chr11:77185445-77185458 chr11:77185393-77185406 chr11:77185361-77185375
19	ZMIZ1	chr11:77185007-77185496	K562	blood:	n/a	n/a
20	POLR2A	chr11:77184354-77185554	MCF-7	breast:	n/a	n/a
21	JUN	chr11:77184973-77185647	K562	blood:	n/a	chr11:77185296-77185305 chr11:77185301-77185310 chr11:77185446-77185455 chr11:77185445-77185458 chr11:77185393-77185406 chr11:77185361-77185375
22	POLR2A	chr11:77185235-77185636	K562	blood:	n/a	n/a
23	BCL3	chr11:77185168-77185728	A549	lung:	n/a	chr11:77185263-77185276 chr11:77185265-77185278 chr11:77185272-77185285 chr11:77185582-77185591 chr11:77185260-77185273 chr11:77185261-77185270 chr11:77185266-77185279 chr11:77185264-77185273 chr11:77185259-77185272 chr11:77185258-77185267
24	IRF4	chr11:77185275-77185640	GM12878	blood:	n/a	n/a
25	CTCF	chr11:77185347-77185501	Fibrobl	skin:	n/a	n/a
26	RELA	chr11:77184901-77185869	GM12891	blood:	n/a	n/a
27	CBX3	chr11:77185243-77185604	K562	blood:	n/a	n/a
28	RAD21	chr11:77184921-77185656	H1-hESC	embryonic stem cell:	n/a	n/a
29	ATF2	chr11:77184874-77185768	GM12878	blood:	n/a	chr11:77185391-77185405 chr11:77185443-77185457
30	POLR2A	chr11:77185251-77185562	GM12878	blood:	n/a	n/a
31	CREB1	chr11:77184839-77185831	K562	blood:	n/a	chr11:77185444-77185457 chr11:77185392-77185405
32	CREB1	chr11:77184831-77185838	H1-hESC	embryonic stem cell:	n/a	chr11:77185444-77185457 chr11:77185392-77185405
33	FOXP2	chr11:77185272-77185548	SK-N-MC	brain:	n/a	n/a
34	BRCA1	chr11:77185248-77185637	Hela-S3	cervix:	n/a	n/a
35	USF1	chr11:77185300-77185587	SK-N-SH	brain:	n/a	n/a
36	SP1	chr11:77184899-77185602	GM12878	blood:	n/a	chr11:77185021-77185033 chr11:77185299-77185313 chr11:77185322-77185331 chr11:77185299-77185308 chr11:77185321-77185330 chr11:77185021-77185033 chr11:77185022-77185031 chr11:77185018-77185032 chr11:77185021-77185032 chr11:77185113-77185122 chr11:77185113-77185127 chr11:77185113-77185123 chr11:77185322-77185331 chr11:77185298-77185310 chr11:77185317-77185331 chr11:77185298-77185310 chr11:77185320-77185332 chr11:77185114-77185123 chr11:77185320-77185332 chr11:77185300-77185309
37	GABPA	chr11:77185260-77185729	A549	lung:	n/a	chr11:77185321-77185330
38	ATF3	chr11:77185172-77185591	A549	lung:	n/a	chr11:77185321-77185330 chr11:77185443-77185458 chr11:77185445-77185456 chr11:77185447-77185457 chr11:77185446-77185466 chr11:77185394-77185414 chr11:77185445-77185456 chr11:77185392-77185405 chr11:77185447-77185457 chr11:77185445-77185458 chr11:77185393-77185406 chr11:77185446-77185454 chr11:77185447-77185455 chr11:77185295-77185304 chr11:77185444-77185457 chr11:77185392-77185405 chr11:77185391-77185406 chr11:77185444-77185457 chr11:77185447-77185458 chr11:77185446-77185457 chr11:77185395-77185405 chr11:77185447-77185454 chr11:77185395-77185403
39	CTBP2	chr11:77184969-77185591	H1-hESC	embryonic stem cell:	n/a	n/a
40	EGR1	chr11:77184791-77185532	K562	blood:	n/a	chr11:77185016-77185031 chr11:77185043-77185065 chr11:77185109-77185122 chr11:77185315-77185330 chr11:77185047-77185060 chr11:77185048-77185062 chr11:77185018-77185032 chr11:77185017-77185030 chr11:77185046-77185061 chr11:77185316-77185329 chr11:77185299-77185309 chr11:77184972-77184986 chr11:77185316-77185329 chr11:77185317-77185331 chr11:77185017-77185030
41	CBX3	chr11:77184808-77185836	K562	blood:	n/a	n/a
42	USF1	chr11:77185268-77185655	A549	lung:	n/a	n/a
43	NRF1	chr11:77185413-77185845	GM12878	blood:	n/a	n/a
44	ZBTB7A	chr11:77184115-77185533	ECC-1	luminal epithelium:	n/a	chr11:77184322-77184329
45	ZNF263	chr11:77183657-77185642	HEK293-T-REx	kidney:	n/a	chr11:77184632-77184641 chr11:77184626-77184635 chr11:77184460-77184469 chr11:77184629-77184638
46	FOSL2	chr11:77185253-77185737	A549	lung:	n/a	chr11:77185296-77185305 chr11:77185301-77185310 chr11:77185446-77185455 chr11:77185361-77185375
47	FOS	chr11:77185278-77185584	MCF10A-Er-Src	breast:	n/a	chr11:77185296-77185305 chr11:77185301-77185310 chr11:77185446-77185455 chr11:77185361-77185375
48	ATF3	chr11:77185259-77185667	H1-hESC	embryonic stem cell:	n/a	chr11:77185321-77185330 chr11:77185443-77185458 chr11:77185445-77185456 chr11:77185447-77185457 chr11:77185446-77185466 chr11:77185394-77185414 chr11:77185445-77185456 chr11:77185392-77185405 chr11:77185447-77185457 chr11:77185445-77185458 chr11:77185393-77185406 chr11:77185446-77185454 chr11:77185447-77185455 chr11:77185295-77185304 chr11:77185444-77185457 chr11:77185392-77185405 chr11:77185391-77185406 chr11:77185444-77185457 chr11:77185447-77185458 chr11:77185446-77185457 chr11:77185395-77185405 chr11:77185447-77185454 chr11:77185395-77185403
49	MAX	chr11:77184784-77185657	H1-hESC	embryonic stem cell:	n/a	chr11:77185020-77185030 chr11:77185319-77185329 chr11:77185113-77185123
50	JUND	chr11:77185238-77185571	H1-hESC	embryonic stem cell:	n/a	chr11:77185296-77185305 chr11:77185301-77185310 chr11:77185446-77185455 chr11:77185361-77185375

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:77185398-77185448	SK-N-SH_RA	brain:	n/a
2	chr11:77185398-77185448	A549	lung:	n/a
3	chr11:77185398-77185448	BJ	skin:	n/a
4	chr11:77185398-77185448	HRE	kidney:	n/a
5	chr11:77185398-77185448	HRCEpiC	kidney:	n/a
6	chr11:77185398-77185448	GM19239	blood:	n/a
7	chr11:77185398-77185448	K562	blood:	n/a
8	chr11:77185398-77185448	RPTEC	kidney:	n/a
9	chr11:77185398-77185448	HMEC	breast:	n/a
10	chr11:77185398-77185448	NH-A	brain:	n/a
11	chr11:77185398-77185448	SAEC	small airway:	n/a
12	chr11:77185398-77185448	HPAEpiC	pulmonary alveolar:	n/a
13	chr11:77185398-77185448	HEK293	kidney:	embryo
14	chr11:77185398-77185448	HCPEpiC	choroid plexus:	n/a
15	chr11:77185398-77185448	HCT-116	colon:	n/a
16	chr11:77185398-77185448	GM12891	blood:	n/a
17	chr11:77185398-77185448	NHDF-neo	bronchial:	n/a
18	chr11:77185398-77185448	Hela-S3	cervix:	n/a
19	chr11:77185398-77185448	HepG2	liver:	n/a
20	chr11:77185398-77185448	GM12892	blood:	n/a
21	chr11:77185398-77185448	ProgFib	skin:	n/a
22	chr11:77185398-77185448	GM12878	blood:	n/a
23	chr11:77185398-77185448	HAEpiC	amniotic membrane:	n/a
24	chr11:77185398-77185448	AG04450	lung:	fetal
25	chr11:77185398-77185448	HRPEpiC	eye:	n/a
26	chr11:77185398-77185448	CMK	blood:	n/a
27	chr11:77185398-77185448	MCF-7	breast:	n/a
28	chr11:77185398-77185448	PANC-1	pancreas:	n/a
29	chr11:77185398-77185448	PFSK-1	brain:	n/a
30	chr11:77185398-77185448	NT2-D1	testis:	n/a
31	chr11:77185398-77185448	HL-60	blood:	n/a
32	chr11:77185398-77185448	HUVEC	blood vessel:	n/a
33	chr11:77185398-77185448	AG09309	skin:	n/a
34	chr11:77185398-77185448	T-47D	breast:	n/a
35	chr11:77185398-77185448	IMR90	lung:	fetal
36	chr11:77185398-77185448	SKMC	muscle:	n/a
37	chr11:77185398-77185448	BE2_C	brain:	n/a
38	chr11:77185398-77185448	PrEC	prostate:	n/a
39	chr11:77185398-77185448	H1-hESC	embryonic stem cell:	embryo
40	chr11:77185398-77185448	HNPCEpiC	eye:	n/a
41	chr11:77185398-77185448	AoSMC	blood vessel:	n/a
42	chr11:77185398-77185448	SK-N-MC	brain:	n/a
43	chr11:77185398-77185448	HCF	heart:	n/a
44	chr11:77185398-77185448	NHBE	bronchial:	n/a
45	chr11:77185398-77185448	U87	brain:	n/a
46	chr11:77185398-77185448	HCM	heart:	n/a
47	chr11:77185398-77185448	AG09319	gingival:	n/a
48	chr11:77185398-77185448	AG10803	skin:	n/a
49	chr11:77185398-77185448	Hepatocyte	liver:	n/a
50	chr11:77185398-77185448	AG04449	skin:	fetal

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:77182864..77185465-chr2:149892800..149895583,2	MCF-7	breast:
2	chr11:77120907..77124363-chr11:77182142..77186268,4	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AQP11-4	chr11:77184416-77188075	NONHSAT023216

Variant related genes	Relation type
PAK1	TF binding region
PAK1	CpG island
ENSG00000150556	Chromatin interaction
ENSG00000149269	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048360	chr11:76900813-77387933	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv541089	chr11:76900813-77387933	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1049603	chr11:76900813-77520411	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer 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	29 gene(s)	inside rSNPs	diseases
4	nsv541090	chr11:76900813-77520411	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	esv3424135	chr11:76961603-77277087	Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv1037724	chr11:77061945-77250391	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv541091	chr11:77061945-77250391	Weak transcription Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	esv3437433	chr11:77101280-77291686	Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	esv3330993	chr11:77183854-77186152	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:77183200-77185600	Active TSS	H9 Cell Line	embryonic stem cell
2	chr11:77183200-77186000	Active TSS	Duodenum Smooth Muscle	Duodenum
3	chr11:77183400-77185600	Active TSS	Fetal Stomach	stomach
4	chr11:77183400-77185800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr11:77183400-77185800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr11:77183400-77185800	Active TSS	Sigmoid Colon	Sigmoid Colon
7	chr11:77183400-77186000	Active TSS	Brain Hippocampus Middle	brain
8	chr11:77183400-77186000	Active TSS	Brain Inferior Temporal Lobe	brain
9	chr11:77183400-77186200	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr11:77183600-77185800	Active TSS	H1 Cell Line	embryonic stem cell
11	chr11:77183600-77185800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr11:77183600-77185800	Active TSS	Ovary	ovary
13	chr11:77183600-77186000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr11:77183600-77186000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr11:77183600-77186000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr11:77183600-77186000	Active TSS	Brain Germinal Matrix	brain
17	chr11:77183600-77186000	Active TSS	Fetal Brain Male	brain
18	chr11:77183600-77186000	Active TSS	Pancreas	Pancrea
19	chr11:77183600-77186200	Active TSS	Duodenum Mucosa	Duodenum
20	chr11:77183600-77186400	Active TSS	Fetal Kidney	kidney
21	chr11:77183800-77185600	Active TSS	iPS-18 Cell Line	embryonic stem cell
22	chr11:77183800-77185600	Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr11:77183800-77185600	Active TSS	Brain Cingulate Gyrus	brain
24	chr11:77183800-77185800	Active TSS	HUES6 Cell Line	embryonic stem cell
25	chr11:77183800-77185800	Active TSS	iPS-15b Cell Line	embryonic stem cell
26	chr11:77183800-77185800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr11:77183800-77185800	Active TSS	Liver	Liver
28	chr11:77183800-77185800	Active TSS	Fetal Intestine Large	intestine
29	chr11:77183800-77186000	Active TSS	ES-I3 Cell Line	embryonic stem cell
30	chr11:77183800-77186000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr11:77183800-77186000	Active TSS	HUES64 Cell Line	embryonic stem cell
32	chr11:77183800-77186000	Active TSS	Brain Angular Gyrus	brain
33	chr11:77183800-77186000	Active TSS	GM12878-XiMat	blood
34	chr11:77183800-77186200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr11:77183800-77186400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
36	chr11:77184000-77185600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr11:77184000-77185600	Active TSS	HUES48 Cell Line	embryonic stem cell
38	chr11:77184000-77185600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr11:77184000-77185600	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
40	chr11:77184000-77185600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr11:77184000-77185600	Active TSS	Esophagus	oesophagus
42	chr11:77184000-77185600	Active TSS	Gastric	stomach
43	chr11:77184000-77185600	Active TSS	Small Intestine	intestine
44	chr11:77184000-77185600	Bivalent/Poised TSS	Osteobl	bone
45	chr11:77184000-77185800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr11:77184000-77185800	Active TSS	Brain Substantia Nigra	brain
47	chr11:77184000-77185800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
48	chr11:77184000-77185800	Active TSS	Fetal Intestine Small	intestine
49	chr11:77184000-77185800	Active TSS	Psoas Muscle	Psoas
50	chr11:77184000-77185800	Active TSS	HSMM	muscle

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