Variant report

Variant	rs61897848
Chromosome Location	chr11:47198638-47198639
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	REST	chr11:47198075-47199204	A549	lung:	n/a	n/a
2	CTCF	chr11:47198381-47198722	Spleen_OC	spleen:	n/a	chr11:47198708-47198717
3	CREB1	chr11:47198040-47199430	GM12878	blood:	n/a	n/a
4	PBX3	chr11:47198136-47199045	SK-N-SH	brain:	n/a	chr11:47198837-47198857
5	MAX	chr11:47197655-47199318	ECC-1	luminal epithelium:	n/a	chr11:47198723-47198732 chr11:47198689-47198699 chr11:47198746-47198756 chr11:47197888-47197898
6	EGR1	chr11:47198470-47198801	GM12878	blood:	n/a	chr11:47198719-47198729 chr11:47198691-47198704 chr11:47198563-47198572 chr11:47198719-47198732 chr11:47198560-47198573
7	CTCF	chr11:47198399-47199675	HCT-116	colon:	n/a	chr11:47199018-47199027 chr11:47198708-47198717 chr11:47199012-47199030 chr11:47199007-47199028 chr11:47199015-47199025 chr11:47199013-47199029
8	SMC3	chr11:47198624-47199452	GM12878	blood:	n/a	chr11:47199014-47199028 chr11:47199021-47199028 chr11:47198749-47198759
9	GATA1	chr11:47198219-47199285	PBDE	blood:	n/a	chr11:47198960-47198968
10	EP300	chr11:47198214-47199302	K562	blood:	n/a	chr11:47198810-47198823 chr11:47198551-47198567 chr11:47198620-47198636 chr11:47198565-47198574
11	RFX5	chr11:47198259-47199041	HepG2	liver:	n/a	n/a
12	FOXA1	chr11:47198378-47198674	T-47D	breast:	n/a	n/a
13	CTCF	chr11:47198120-47199637	SK-N-SH	brain:	n/a	chr11:47199018-47199027 chr11:47198315-47198325 chr11:47198708-47198717 chr11:47199012-47199030 chr11:47199007-47199028 chr11:47199015-47199025 chr11:47199013-47199029
14	MAZ	chr11:47197803-47199543	K562	blood:	n/a	chr11:47198723-47198732 chr11:47198689-47198699 chr11:47198746-47198756
15	ATF2	chr11:47198186-47199169	GM12878	blood:	n/a	n/a
16	TBL1XR1	chr11:47198177-47199355	K562	blood:	n/a	n/a
17	SMARCB1	chr11:47197772-47199998	Hela-S3	cervix:	n/a	n/a
18	YY1	chr11:47197906-47198818	A549	lung:	n/a	chr11:47198620-47198634 chr11:47198463-47198477 chr11:47198565-47198574 chr11:47198394-47198414 chr11:47198729-47198743 chr11:47198752-47198761
19	POLR2A	chr11:47197776-47199288	GM19193	blood:	n/a	n/a
20	POLR2A	chr11:47197443-47199120	MCF-7	breast:	n/a	n/a
21	YY1	chr11:47197759-47199359	GM12892	blood:	n/a	chr11:47198620-47198634 chr11:47198463-47198477 chr11:47198565-47198574 chr11:47198394-47198414 chr11:47198729-47198743 chr11:47198752-47198761
22	TAF1	chr11:47197997-47198677	MCF-7	breast:	n/a	n/a
23	MTA3	chr11:47198030-47199679	GM12878	blood:	n/a	n/a
24	JUND	chr11:47198228-47198757	HepG2	liver:	n/a	n/a
25	POLR2A	chr11:47197725-47199043	GM12878	blood:	n/a	n/a
26	POLR2A	chr11:47197853-47199374	HUVEC	blood vessel:	n/a	n/a
27	SP1	chr11:47198054-47199311	A549	lung:	n/a	chr11:47198540-47198561 chr11:47198624-47198636 chr11:47198689-47198699 chr11:47198753-47198762 chr11:47198748-47198762 chr11:47198753-47198762 chr11:47198683-47198695 chr11:47198626-47198635 chr11:47198514-47198524 chr11:47198752-47198761 chr11:47198688-47198700 chr11:47198626-47198635 chr11:47198688-47198700 chr11:47198685-47198694 chr11:47198683-47198695 chr11:47198270-47198284 chr11:47198684-47198693 chr11:47198624-47198636 chr11:47198864-47198878 chr11:47198684-47198698 chr11:47198609-47198630 chr11:47198751-47198763 chr11:47198625-47198634 chr11:47198449-47198470 chr11:47198677-47198691 chr11:47198751-47198763
28	SP1	chr11:47198140-47199001	H1-hESC	embryonic stem cell:	n/a	chr11:47198540-47198561 chr11:47198624-47198636 chr11:47198689-47198699 chr11:47198753-47198762 chr11:47198748-47198762 chr11:47198753-47198762 chr11:47198683-47198695 chr11:47198626-47198635 chr11:47198514-47198524 chr11:47198752-47198761 chr11:47198688-47198700 chr11:47198626-47198635 chr11:47198688-47198700 chr11:47198685-47198694 chr11:47198683-47198695 chr11:47198270-47198284 chr11:47198684-47198693 chr11:47198624-47198636 chr11:47198864-47198878 chr11:47198684-47198698 chr11:47198609-47198630 chr11:47198751-47198763 chr11:47198625-47198634 chr11:47198449-47198470 chr11:47198677-47198691 chr11:47198751-47198763
29	REST	chr11:47198176-47198833	HepG2	liver:	n/a	n/a
30	POLR2A	chr11:47197958-47198791	U87	brain:	n/a	n/a
31	FOXM1	chr11:47198030-47199367	GM12878	blood:	n/a	n/a
32	POLR2A	chr11:47197928-47198668	H1-hESC	embryonic stem cell:	n/a	n/a
33	EGR1	chr11:47198043-47199402	MCF-7	breast:	n/a	chr11:47198187-47198200 chr11:47198719-47198729 chr11:47199089-47199103 chr11:47198467-47198477 chr11:47198691-47198704 chr11:47198563-47198572 chr11:47198719-47198732 chr11:47198560-47198573
34	EP300	chr11:47198410-47199164	GM12878	blood:	n/a	chr11:47198810-47198823 chr11:47198551-47198567 chr11:47198620-47198636 chr11:47198565-47198574
35	TBP	chr11:47197704-47199133	K562	blood:	n/a	n/a
36	SMC3	chr11:47198185-47199547	Hela-S3	cervix:	n/a	chr11:47199014-47199028 chr11:47199021-47199028 chr11:47198314-47198324 chr11:47198749-47198759
37	TCF7L2	chr11:47198362-47198774	PANC-1	pancreas:	n/a	n/a
38	HA-E2F1	chr11:47198048-47198919	MCF-7	breast:	n/a	chr11:47198752-47198761 chr11:47198312-47198321
39	PML	chr11:47198110-47199123	K562	blood:	n/a	n/a
40	POLR2A	chr11:47197762-47199325	K562	blood:	n/a	n/a
41	UBTF	chr11:47197715-47199207	K562	blood:	n/a	n/a
42	EBF1	chr11:47198524-47199497	GM12878	blood:	n/a	n/a
43	YY1	chr11:47197772-47199251	GM12891	blood:	n/a	chr11:47198620-47198634 chr11:47198463-47198477 chr11:47198565-47198574 chr11:47198394-47198414 chr11:47198729-47198743 chr11:47198752-47198761
44	TBL1XR1	chr11:47198511-47199427	K562	blood:	n/a	n/a
45	POLR2A	chr11:47197777-47199105	A549	lung:	n/a	n/a
46	STAT5A	chr11:47197699-47199373	GM12878	blood:	n/a	chr11:47197800-47197812 chr11:47198685-47198697
47	CTCF	chr11:47198503-47199523	K562	blood:	n/a	chr11:47199018-47199027 chr11:47198708-47198717 chr11:47199012-47199030 chr11:47199007-47199028 chr11:47199015-47199025 chr11:47199013-47199029
48	POLR2A	chr11:47197575-47198920	GM12892	blood:	n/a	n/a
49	SIN3AK20	chr11:47198312-47199261	K562	blood:	n/a	n/a
50	POLR2A	chr11:47197872-47198939	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:47197913..47198646-chr6:32939868..32940534,2	Hela-S3	cervix:
2	chr11:47196892..47202921-chr11:47278417..47285951,9	MCF-7	breast:
3	chr11:47197588..47201043-chr11:47267472..47270431,4	MCF-7	breast:
4	chr11:47195816..47200318-chr11:47289518..47292814,8	K562	blood:
5	chr11:47197631..47199665-chr11:47279516..47282212,2	K562	blood:
6	chr11:47198368..47200069-chr11:47446814..47449315,2	MCF-7	breast:
7	chr11:47195231..47200543-chr11:47288487..47293127,12	MCF-7	breast:
8	chr11:46866113..46868534-chr11:47197085..47200725,4	K562	blood:
9	chr11:47197465..47200418-chr11:47428077..47430700,3	K562	blood:
10	chr11:47196838..47200214-chr11:47234555..47238435,7	MCF-7	breast:
11	chr11:47196068..47203526-chr11:47288943..47293025,13	MCF-7	breast:
12	chr11:47197941..47200223-chr11:47281634..47284173,2	K562	blood:
13	chr11:47197774..47202059-chr11:47234538..47239113,7	MCF-7	breast:
14	chr11:47194502..47201735-chr11:47289181..47294156,14	K562	blood:
15	chr11:47198362..47199299-chr17:79479275..79479912,2	Hela-S3	cervix:
16	chr11:47198332..47200151-chr11:47277071..47279374,2	K562	blood:
17	chr11:46866389..46868370-chr11:47196689..47198841,3	MCF-7	breast:
18	chr11:47197356..47201056-chr11:47268366..47272336,6	MCF-7	breast:
19	chr11:46910973..46911895-chr11:47198555..47199228,3	MCF-7	breast:
20	chr11:47196939..47199221-chr11:47446629..47449473,2	K562	blood:

Variant related genes	Relation type
ARFGAP2	TF binding region
ENSG00000204256	Chromatin interaction
ENSG00000134574	Chromatin interaction
ENSG00000256746	Chromatin interaction
ENSG00000025434	Chromatin interaction
ENSG00000134575	Chromatin interaction
ENSG00000110514	Chromatin interaction
ENSG00000175216	Chromatin interaction
ENSG00000165916	Chromatin interaction
ENSG00000247675	Chromatin interaction
ENSG00000184009	Chromatin interaction
ENSG00000134569	Chromatin interaction
ENSG00000165915	Chromatin interaction
ENSG00000255197	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs4463814	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897323	chr11:47182926-47460306	Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	nsv897324	chr11:47193566-47212032	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	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	chr11:47197000-47207600	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
2	chr11:47197200-47199200	Active TSS	HUES48 Cell Line	embryonic stem cell
3	chr11:47197400-47199000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr11:47197400-47199000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr11:47197400-47199200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr11:47197400-47199200	Flanking Active TSS	Primary hematopoietic stem cells	blood
7	chr11:47197400-47199400	Active TSS	Psoas Muscle	Psoas
8	chr11:47197600-47198800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
9	chr11:47197600-47198800	Active TSS	Pancreas	Pancrea
10	chr11:47197600-47198800	Active TSS	NHEK	skin
11	chr11:47197600-47199000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr11:47197600-47199000	Active TSS	iPS-15b Cell Line	embryonic stem cell
13	chr11:47197600-47199000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr11:47197600-47199000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr11:47197600-47199000	Active TSS	Aorta	Aorta
16	chr11:47197600-47199000	Active TSS	Esophagus	oesophagus
17	chr11:47197600-47199000	Active TSS	Fetal Intestine Large	intestine
18	chr11:47197600-47199000	Active TSS	Gastric	stomach
19	chr11:47197600-47199000	Active TSS	Lung	lung
20	chr11:47197600-47199000	Active TSS	Ovary	ovary
21	chr11:47197600-47199000	Active TSS	Sigmoid Colon	Sigmoid Colon
22	chr11:47197600-47199000	Active TSS	GM12878-XiMat	blood
23	chr11:47197600-47199000	Active TSS	HSMMtube	muscle
24	chr11:47197600-47199000	Active TSS	NHDF-Ad	bronchial
25	chr11:47197600-47199200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr11:47197600-47199200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr11:47197600-47199200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr11:47197600-47199200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr11:47197600-47199200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr11:47197600-47199200	Active TSS	Muscle Satellite Cultured Cells	--
31	chr11:47197600-47199200	Active TSS	Right Atrium	heart
32	chr11:47197600-47199200	Active TSS	Right Ventricle	heart
33	chr11:47197600-47199200	Active TSS	Thymus	Thymus
34	chr11:47197600-47199200	Active TSS	A549	lung
35	chr11:47197600-47199400	Active TSS	HUES64 Cell Line	embryonic stem cell
36	chr11:47197600-47199400	Active TSS	iPS-18 Cell Line	embryonic stem cell
37	chr11:47197600-47199400	Active TSS	iPS-20b Cell Line	embryonic stem cell
38	chr11:47197800-47198800	Active TSS	ES-I3 Cell Line	embryonic stem cell
39	chr11:47197800-47198800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr11:47197800-47198800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr11:47197800-47198800	Active TSS	Primary hematopoietic stem cells short term culture	blood
42	chr11:47197800-47198800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr11:47197800-47198800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr11:47197800-47198800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr11:47197800-47198800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr11:47197800-47198800	Active TSS	Fetal Intestine Small	intestine
47	chr11:47197800-47198800	Active TSS	Fetal Thymus	thymus
48	chr11:47197800-47198800	Active TSS	Hela-S3	cervix
49	chr11:47197800-47198800	Bivalent/Poised TSS	HepG2	liver
50	chr11:47197800-47198800	Active TSS	HMEC	breast

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