Variant report

Variant	rs7103596
Chromosome Location	chr11:9338052-9338053
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:9226702..9229118-chr11:9336519..9338201,2	K562	blood:
2	chr11:9335962..9338074-chr11:9596330..9598082,2	K562	blood:
3	chr11:9328102..9338305-chr11:9404480..9412498,38	K562	blood:
4	chr11:9331512..9333662-chr11:9336650..9340135,4	K562	blood:
5	chr11:9334169..9339249-chr11:9404487..9409469,24	K562	blood:
6	chr11:9336578..9339387-chr11:9437499..9440422,2	K562	blood:
7	chr11:9283945..9288774-chr11:9332278..9339081,12	K562	blood:
8	chr11:9337780..9339407-chr11:9342681..9345618,2	MCF-7	breast:
9	chr11:9334944..9338278-chr11:9404354..9407861,9	MCF-7	breast:
10	chr11:9334942..9338160-chr11:9405201..9408296,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000184014	Chromatin interaction
ENSG00000254884	Chromatin interaction
ENSG00000166483	Chromatin interaction
ENSG00000205339	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10770014	0.83[ASN][1000 genomes]
rs10840202	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11042273	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11042290	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11042291	0.89[EUR][1000 genomes]
rs11828205	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12099067	0.90[CHD][hapmap];1.00[MEX][hapmap]
rs12273748	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12278189	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12286943	0.85[CHD][hapmap];0.91[MEX][hapmap]
rs12287120	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12290310	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12292589	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2133217	0.81[CHD][hapmap]
rs2291839	0.85[CHD][hapmap];0.91[MEX][hapmap]
rs35327707	0.87[ASN][1000 genomes]
rs4537761	1.00[CEU][hapmap];0.86[CHB][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4627080	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];0.93[TSI][hapmap];0.88[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59246353	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61875675	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61875692	0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61875696	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61875698	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61875699	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7112281	0.87[ASN][1000 genomes]
rs7123970	0.81[CHD][hapmap]
rs7394878	0.81[CHD][hapmap]
rs7925801	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7941600	0.83[ASN][1000 genomes]
rs7948659	0.85[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs956517	0.89[JPT][hapmap]
rs9888257	0.85[CHD][hapmap]

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	nsv1040049	chr11:9152536-9363488	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv916534	chr11:9188436-9516241	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	nsv1053045	chr11:9208881-9363488	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Active TSS 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	21 gene(s)	inside rSNPs	diseases
4	nsv540947	chr11:9208881-9363488	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv1055078	chr11:9252857-9538877	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
6	nsv508617	chr11:9314027-9408562	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	27 gene(s)	inside rSNPs	diseases
7	nsv521969	chr11:9334961-9379005	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9336800-9340200	Weak transcription	Lung	lung
2	chr11:9337000-9339800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr11:9337000-9339800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr11:9337000-9339800	Weak transcription	Fetal Intestine Small	intestine
5	chr11:9337000-9339800	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr11:9337000-9340200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr11:9337000-9340200	Weak transcription	Right Atrium	heart
8	chr11:9337000-9341200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr11:9337000-9341400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:9337000-9350600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr11:9337200-9338200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr11:9337200-9338200	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr11:9337200-9338400	Enhancers	A549	lung
14	chr11:9337200-9338800	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr11:9337200-9338800	Weak transcription	Primary B cells from cord blood	blood
16	chr11:9337200-9338800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr11:9337200-9339000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr11:9337200-9339000	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr11:9337200-9339400	Weak transcription	Stomach Mucosa	stomach
20	chr11:9337200-9339600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr11:9337200-9339600	Weak transcription	Duodenum Mucosa	Duodenum
22	chr11:9337200-9339600	Weak transcription	Placenta	Placenta
23	chr11:9337200-9339800	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr11:9337200-9339800	Weak transcription	Fetal Intestine Large	intestine
25	chr11:9337200-9340000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr11:9337200-9340000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr11:9337200-9340000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr11:9337200-9340000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr11:9337200-9340200	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr11:9337200-9341200	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr11:9337200-9341200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr11:9337200-9341200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr11:9337200-9341200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr11:9337200-9341400	Weak transcription	Primary hematopoietic stem cells	blood
35	chr11:9337200-9350400	Weak transcription	HSMMtube	muscle
36	chr11:9337400-9338200	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr11:9337400-9339000	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr11:9337400-9339800	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr11:9337400-9339800	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr11:9337400-9339800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr11:9337400-9342800	Enhancers	K562	blood
42	chr11:9337800-9339800	Weak transcription	HepG2	liver
43	chr11:9338000-9338400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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