Variant report

Variant	rs10890771
Chromosome Location	chr11:107730628-107730629
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	ZNF384	chr11:107729482-107731027	GM12878	blood:	n/a	n/a
2	SP1	chr11:107730579-107731012	GM12878	blood:	n/a	n/a
3	MYC	chr11:107730522-107730634	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr11:107728765-107730705	GM18951	blood:	n/a	n/a
5	POLR2A	chr11:107728320-107731018	GM12878	blood:	n/a	n/a
6	KAP1	chr11:107729044-107730757	HEK293	kidney:	n/a	n/a
7	MAX	chr11:107730188-107730644	ECC-1	luminal epithelium:	n/a	n/a
8	ATF2	chr11:107730462-107731073	GM12878	blood:	n/a	n/a
9	SIN3A	chr11:107728687-107730673	H1-hESC	embryonic stem cell:	n/a	chr11:107729330-107729341
10	BCLAF1	chr11:107730616-107731043	GM12878	blood:	n/a	chr11:107730810-107730819
11	TCF12	chr11:107730158-107730707	ECC-1	luminal epithelium:	n/a	n/a
12	MAX	chr11:107730268-107730770	NB4	blood:	n/a	n/a
13	RCOR1	chr11:107730345-107730690	Hela-S3	cervix:	n/a	n/a
14	BHLHE40	chr11:107729118-107731054	GM12878	blood:	n/a	chr11:107729324-107729340
15	NFIC	chr11:107730219-107731072	GM12878	blood:	n/a	n/a
16	MAX	chr11:107730144-107730803	A549	lung:	n/a	n/a
17	POLR2A	chr11:107728442-107731008	GM12891	blood:	n/a	n/a
18	TCF3	chr11:107730510-107730783	GM12878	blood:	n/a	chr11:107730696-107730706 chr11:107730698-107730711 chr11:107730694-107730708
19	POLR2A	chr11:107728482-107730760	GM12878	blood:	n/a	n/a
20	MAZ	chr11:107730380-107730960	GM12878	blood:	n/a	n/a
21	CHD2	chr11:107730354-107731021	GM12878	blood:	n/a	n/a
22	MXI1	chr11:107730341-107730630	K562	blood:	n/a	n/a
23	SIN3AK20	chr11:107730223-107730752	PANC-1	pancreas:	n/a	n/a
24	BACH1	chr11:107730461-107730765	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr11:107728656-107730695	GM15510	blood:	n/a	n/a
26	RCOR1	chr11:107730489-107730631	K562	blood:	n/a	n/a
27	TBL1XR1	chr11:107730335-107731027	GM12878	blood:	n/a	n/a
28	IKZF1	chr11:107730344-107730926	GM12878	blood:	n/a	n/a
29	MAX	chr11:107730265-107730691	Hela-S3	cervix:	n/a	n/a
30	MYC	chr11:107730325-107730755	K562	blood:	n/a	n/a
31	POLR2A	chr11:107728796-107730714	GM19193	blood:	n/a	n/a
32	RUNX3	chr11:107730235-107731033	GM12878	blood:	n/a	n/a
33	POLR2A	chr11:107728507-107730902	GM12878	blood:	n/a	n/a
34	EBF1	chr11:107730310-107730848	GM12878	blood:	n/a	n/a
35	MAX	chr11:107730154-107730795	ECC-1	luminal epithelium:	n/a	n/a
36	EBF1	chr11:107730340-107730862	GM12878	blood:	n/a	n/a
37	NFIC	chr11:107730524-107731030	GM12878	blood:	n/a	n/a
38	EP300	chr11:107730452-107730993	GM12878	blood:	n/a	chr11:107730977-107730987
39	MTA3	chr11:107730145-107731069	GM12878	blood:	n/a	n/a
40	GTF2F1	chr11:107730381-107730672	Hela-S3	cervix:	n/a	n/a
41	MAZ	chr11:107728400-107730739	IMR90	lung:	n/a	chr11:107729315-107729322 chr11:107729341-107729350 chr11:107729314-107729323
42	ZNF384	chr11:107729367-107730856	K562	blood:	n/a	n/a
43	MYC	chr11:107728729-107730674	MCF10A-Er-Src	breast:	n/a	chr11:107729315-107729322 chr11:107729341-107729350 chr11:107729314-107729323
44	POLR2A	chr11:107730392-107730642	K562	blood:	n/a	n/a
45	TCF12	chr11:107730585-107730957	GM12878	blood:	n/a	n/a
46	NFIC	chr11:107729139-107730828	ECC-1	luminal epithelium:	n/a	n/a
47	MYC	chr11:107730294-107730689	NB4	blood:	n/a	n/a
48	EP300	chr11:107730596-107731026	GM12878	blood:	n/a	chr11:107730977-107730987
49	POU2F2	chr11:107730373-107731107	GM12878	blood:	n/a	chr11:107730898-107730913
50	POLR2A	chr11:107730255-107731119	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:107728941..107731899-chr11:107878493..107880123,2	K562	blood:
2	chr11:107459711..107461881-chr11:107729122..107732071,2	K562	blood:

Variant related genes	Relation type
SLC35F2	TF binding region
ENSG00000166266	Chromatin interaction
ENSG00000110675	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12274618	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12282665	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12296042	0.94[AFR][1000 genomes]
rs28414916	0.88[AFR][1000 genomes]
rs56132728	0.94[AFR][1000 genomes]
rs73548834	0.87[EUR][1000 genomes]
rs73548839	0.87[EUR][1000 genomes]
rs73548843	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533794	chr11:107349817-108093259	Bivalent Enhancer Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv1039425	chr11:107468681-107895836	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv427899	chr11:107471544-107805894	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv1049524	chr11:107540937-107954011	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv1038581	chr11:107564274-107838386	Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv898378	chr11:107580985-107847983	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases
7	nsv521771	chr11:107590335-107904646	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	18 gene(s)	inside rSNPs	diseases
8	nsv1048938	chr11:107604473-107929950	Flanking Active TSS Active TSS Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	18 gene(s)	inside rSNPs	diseases
9	nsv1045388	chr11:107686808-107733498	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
10	esv2750980	chr11:107720941-107970986	Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
11	nsv1043139	chr11:107725297-107869216	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
12	nsv898381	chr11:107729106-107847983	Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:107727600-107730800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr11:107727800-107730800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr11:107727800-107730800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr11:107727800-107731000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
5	chr11:107727800-107731200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr11:107728000-107730800	Active TSS	Esophagus	oesophagus
7	chr11:107728400-107730800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr11:107728400-107730800	Flanking Active TSS	Primary hematopoietic stem cells	blood
9	chr11:107728400-107730800	Active TSS	Primary T killer memory cells from peripheral blood	blood
10	chr11:107728400-107730800	Active TSS	Duodenum Mucosa	Duodenum
11	chr11:107728400-107730800	Active TSS	Ovary	ovary
12	chr11:107728400-107731000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr11:107728600-107730800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr11:107728600-107730800	Active TSS	H9 Cell Line	embryonic stem cell
15	chr11:107728600-107730800	Active TSS	Fetal Kidney	kidney
16	chr11:107728600-107730800	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
17	chr11:107728600-107730800	Active TSS	Right Ventricle	heart
18	chr11:107728600-107730800	Active TSS	Hela-S3	cervix
19	chr11:107728600-107730800	Active TSS	HMEC	breast
20	chr11:107728600-107730800	Active TSS	HSMM	muscle
21	chr11:107728600-107731000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr11:107728600-107731000	Flanking Active TSS	Primary B cells from cord blood	blood
23	chr11:107728600-107731000	Flanking Active TSS	Adipose Nuclei	Adipose
24	chr11:107728600-107731000	Active TSS	Pancreatic Islets	Pancreatic Islet
25	chr11:107728800-107730800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr11:107728800-107730800	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
27	chr11:107728800-107730800	Active TSS	Aorta	Aorta
28	chr11:107728800-107730800	Active TSS	Brain Angular Gyrus	brain
29	chr11:107728800-107730800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
30	chr11:107728800-107730800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
31	chr11:107728800-107730800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
32	chr11:107728800-107730800	Active TSS	Right Atrium	heart
33	chr11:107728800-107731000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
34	chr11:107728800-107731000	Active TSS	Rectal Mucosa Donor 29	rectum
35	chr11:107728800-107731000	Active TSS	NHDF-Ad	bronchial
36	chr11:107728800-107731200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
37	chr11:107729000-107730800	Active TSS	iPS-15b Cell Line	embryonic stem cell
38	chr11:107729000-107730800	Bivalent/Poised TSS	Primary T cells from cord blood	blood
39	chr11:107729000-107730800	Flanking Active TSS	Liver	Liver
40	chr11:107729000-107731000	Active TSS	HUES48 Cell Line	embryonic stem cell
41	chr11:107729000-107731000	Bivalent/Poised TSS	Fetal Intestine Small	intestine
42	chr11:107729000-107731000	Active TSS	HepG2	liver
43	chr11:107729200-107730800	Active TSS	Muscle Satellite Cultured Cells	--
44	chr11:107729200-107731000	Bivalent/Poised TSS	Fetal Intestine Large	intestine
45	chr11:107729200-107731000	Active TSS	NHLF	lung
46	chr11:107729400-107730800	Active TSS	H1 Cell Line	embryonic stem cell
47	chr11:107729400-107730800	Active TSS	HUES64 Cell Line	embryonic stem cell
48	chr11:107729400-107731200	Active TSS	HUES6 Cell Line	embryonic stem cell
49	chr11:107729600-107730800	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
50	chr11:107729600-107730800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood

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