Variant report

Variant	rs2070763
Chromosome Location	chr11:75112137-75112138
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:36)
CpG islands
(count:0)
Chromatin interactive
region (count:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:36 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:75110328-75112208	GM12892	blood:	n/a	n/a
2	POLR2A	chr11:75110119-75120367	PFSK-1	brain:	n/a	n/a
3	POLR2A	chr11:75110255-75120255	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr11:75110199-75112429	HUVEC	blood vessel:	n/a	n/a
5	POLR2A	chr11:75112137-75112421	HCT-116	colon:	n/a	n/a
6	MXI1	chr11:75110161-75113092	SK-N-SH	brain:	n/a	n/a
7	CREB1	chr11:75111889-75112219	A549	lung:	n/a	n/a
8	POLR2A	chr11:75110240-75112689	HUVEC	blood vessel:	n/a	n/a
9	CHD1	chr11:75110526-75112764	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr11:75110310-75118425	GM12878	blood:	n/a	n/a
11	POLR2A	chr11:75111817-75112771	K562	blood:	n/a	n/a
12	POLR2A	chr11:75110361-75112148	K562	blood:	n/a	n/a
13	POLR2A	chr11:75111898-75112151	HCT-116	colon:	n/a	n/a
14	POLR2A	chr11:75110251-75112657	PANC-1	pancreas:	n/a	n/a
15	POLR2A	chr11:75110219-75118608	GM12878	blood:	n/a	n/a
16	POLR2A	chr11:75110259-75112693	GM12878	blood:	n/a	n/a
17	POLR2A	chr11:75110149-75120406	PFSK-1	brain:	n/a	n/a
18	POLR2A	chr11:75110164-75120300	PANC-1	pancreas:	n/a	n/a
19	POLR2A	chr11:75110166-75120422	SK-N-MC	brain:	n/a	n/a
20	POLR2A	chr11:75111969-75112543	Hela-S3	cervix:	n/a	n/a
21	POLR2A	chr11:75112126-75112443	HepG2	liver:	n/a	n/a
22	POLR2A	chr11:75110247-75112404	NB4	blood:	n/a	n/a
23	POLR2A	chr11:75111944-75112531	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr11:75112081-75112693	GM12892	blood:	n/a	n/a
25	POLR2A	chr11:75112090-75116413	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr11:75110217-75116378	GM12892	blood:	n/a	n/a
27	POLR2A	chr11:75109947-75112567	HepG2	liver:	n/a	n/a
28	POLR2A	chr11:75110277-75120208	K562	blood:	n/a	n/a
29	POLR2A	chr11:75110319-75120266	K562	blood:	n/a	n/a
30	NFATC1	chr11:75112111-75112580	GM12878	blood:	n/a	n/a
31	POLR2A	chr11:75110245-75112529	Hela-S3	cervix:	n/a	n/a
32	HEY1	chr11:75110318-75112538	K562	blood:	n/a	n/a
33	POLR2A	chr11:75110328-75112468	H1-hESC	embryonic stem cell:	n/a	n/a
34	POLR2A	chr11:75112086-75120445	Hela-S3	cervix:	n/a	n/a
35	POLR2A	chr11:75110409-75120283	K562	blood:	n/a	n/a
36	HCFC1	chr11:75109980-75113143	Hela-S3	cervix:	n/a	n/a

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:75109252..75112429-chr11:75150436..75153898,3	MCF-7	breast:
2	chr11:75110328..75112822-chr11:75272063..75275236,3	MCF-7	breast:
3	chr11:75109851..75112831-chr11:75160838..75163878,3	MCF-7	breast:
4	chr11:75111521..75113837-chr11:75523467..75525934,2	K562	blood:
5	chr11:75109346..75112415-chr11:75273833..75276890,5	K562	blood:
6	chr11:75111782..75113849-chr11:75133986..75135853,2	K562	blood:
7	chr11:75044252..75049039-chr11:75109874..75112804,4	K562	blood:
8	chr11:75109278..75112345-chr11:75158089..75162369,4	K562	blood:
9	chr11:75109502..75112547-chr11:75141371..75143241,3	K562	blood:
10	chr11:75109916..75112430-chr11:75138205..75142577,6	MCF-7	breast:
11	chr11:75109502..75112547-chr11:75141371..75144789,4	K562	blood:
12	chr11:75109262..75112458-chr11:75235870..75238742,4	MCF-7	breast:
13	chr11:75109363..75113212-chr11:75271581..75274783,5	MCF-7	breast:
14	chr11:75110249..75114230-chr11:75150071..75153287,3	K562	blood:
15	chr11:75110054..75112415-chr11:75273833..75275586,2	K562	blood:
16	chr11:75111438..75113575-chr11:75153737..75155767,2	K562	blood:
17	chr11:75108774..75112522-chr11:75157873..75162369,8	K562	blood:
18	chr11:75108861..75112568-chr11:75234338..75239079,8	K562	blood:
19	chr11:75061972..75065288-chr11:75110522..75113942,5	K562	blood:

No data

Variant related genes	Relation type
SNORD15B	TF binding region
ENSG00000137486	Chromatin interaction
ENSG00000199090	Chromatin interaction
ENSG00000158555	Chromatin interaction
ENSG00000149243	Chromatin interaction
ENSG00000149257	Chromatin interaction
ENSG00000255507	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs4348932	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7131286	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][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	nsv1041640	chr11:74945824-75174688	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	94 gene(s)	inside rSNPs	diseases
2	nsv897920	chr11:75087520-75181249	Genic enhancers Bivalent Enhancer Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
3	esv1799276	chr11:75104200-75135434	Strong transcription Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	26 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	chr11:75110200-75112200	Active TSS	H9 Cell Line	embryonic stem cell
2	chr11:75110400-75112200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:75110400-75112200	Active TSS	iPS-15b Cell Line	embryonic stem cell
4	chr11:75110400-75112200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr11:75110400-75112200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr11:75110400-75112200	Active TSS	Lung	lung
7	chr11:75110400-75112200	Active TSS	Psoas Muscle	Psoas
8	chr11:75110400-75112200	Active TSS	Rectal Mucosa Donor 29	rectum
9	chr11:75110400-75112200	Active TSS	Hela-S3	cervix
10	chr11:75110400-75112200	Active TSS	HSMMtube	muscle
11	chr11:75110400-75112200	Active TSS	HUVEC	blood vessel
12	chr11:75110400-75112200	Active TSS	NH-A	brain
13	chr11:75110400-75112200	Active TSS	Osteobl	bone
14	chr11:75110400-75112400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr11:75110400-75112400	Active TSS	Breast Myoepithelial Primary Cells	Breast
16	chr11:75110400-75112400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr11:75110400-75112400	Active TSS	Pancreas	Pancrea
18	chr11:75110400-75112600	Active TSS	Right Ventricle	heart
19	chr11:75110400-75112600	Active TSS	NHLF	lung
20	chr11:75110400-75112800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr11:75110400-75113000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr11:75110400-75113000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr11:75110600-75112200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
24	chr11:75110600-75112200	Active TSS	Colonic Mucosa	Colon
25	chr11:75110600-75112200	Active TSS	Gastric	stomach
26	chr11:75110600-75112200	Active TSS	Small Intestine	intestine
27	chr11:75110600-75112200	Active TSS	NHDF-Ad	bronchial
28	chr11:75110600-75112400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
29	chr11:75110600-75112400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr11:75110600-75112400	Active TSS	Esophagus	oesophagus
31	chr11:75110600-75113400	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
32	chr11:75110600-75114800	Transcr. at gene 5' and 3'	Dnd41	blood
33	chr11:75110800-75112400	Bivalent/Poised TSS	HepG2	liver
34	chr11:75110800-75114000	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
35	chr11:75110800-75114400	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr11:75110800-75114600	Transcr. at gene 5' and 3'	A549	lung
37	chr11:75111000-75112400	Flanking Active TSS	Fetal Brain Female	brain
38	chr11:75111000-75113600	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
39	chr11:75111000-75114200	Transcr. at gene 5' and 3'	iPS-18 Cell Line	embryonic stem cell
40	chr11:75111000-75114200	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
41	chr11:75111000-75114200	Transcr. at gene 5' and 3'	NHEK	skin
42	chr11:75111200-75112200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr11:75111200-75112400	Flanking Active TSS	Primary hematopoietic stem cells	blood
44	chr11:75111200-75112600	Flanking Active TSS	Primary T cells from cord blood	blood
45	chr11:75111200-75113200	Transcr. at gene 5' and 3'	ES-I3 Cell Line	embryonic stem cell
46	chr11:75111200-75113400	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
47	chr11:75111200-75114000	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
48	chr11:75111200-75114200	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
49	chr11:75111200-75114400	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr11:75111200-75115600	Transcr. at gene 5' and 3'	GM12878-XiMat	blood

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