Variant report

Variant	rs11570195
Chromosome Location	chr11:57564246-57564247
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:57542706..57545310-chr11:57561763..57564745,3	MCF-7	breast:
2	chr11:57510465..57513227-chr11:57564022..57568202,4	K562	blood:
3	chr11:57510308..57513231-chr11:57562462..57564393,2	K562	blood:
4	chr11:57561542..57564393-chr5:74329604..74332106,2	MCF-7	breast:
5	chr11:57561787..57564365-chr11:57565479..57568145,2	MCF-7	breast:
6	chr11:57528346..57530755-chr11:57563133..57564650,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000198561	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10896633	0.90[LWK][hapmap]
rs11229067	0.81[LWK][hapmap]
rs11570190	0.90[LWK][hapmap]
rs11603020	0.90[LWK][hapmap]
rs3824988	0.90[LWK][hapmap]
rs708228	0.90[LWK][hapmap]
rs7117205	0.90[LWK][hapmap]
rs731384	0.90[LWK][hapmap]
rs7936998	0.90[LWK][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044030	chr11:57073395-58035564	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
2	nsv541047	chr11:57073395-58035564	Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
3	nsv530621	chr11:57139699-57703639	Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
4	nsv1040913	chr11:57315006-57696122	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
5	nsv832164	chr11:57407617-57578825	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
6	nsv1054205	chr11:57544264-58358509	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 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	chr11:57556000-57567800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:57556400-57587800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:57557200-57566200	Strong transcription	HUES64 Cell Line	embryonic stem cell
4	chr11:57557200-57566200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
5	chr11:57558400-57567200	Strong transcription	HUES48 Cell Line	embryonic stem cell
6	chr11:57558400-57567400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr11:57558600-57567200	Strong transcription	Fetal Brain Female	brain
8	chr11:57559400-57571000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr11:57559600-57564600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr11:57559800-57566600	Strong transcription	Fetal Stomach	stomach
11	chr11:57559800-57566800	Strong transcription	HUES6 Cell Line	embryonic stem cell
12	chr11:57560000-57566000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr11:57560000-57566000	Strong transcription	Left Ventricle	heart
14	chr11:57560400-57567200	Strong transcription	Fetal Muscle Trunk	muscle
15	chr11:57560600-57565000	Strong transcription	HepG2	liver
16	chr11:57560600-57565400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr11:57560600-57566000	Strong transcription	Stomach Smooth Muscle	stomach
18	chr11:57560800-57564400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr11:57560800-57564600	Strong transcription	K562	blood
20	chr11:57560800-57566000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr11:57560800-57566000	Strong transcription	NH-A	brain
22	chr11:57561000-57565200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr11:57561200-57564600	Strong transcription	Osteobl	bone
24	chr11:57561200-57565800	Strong transcription	HSMM	muscle
25	chr11:57561200-57566200	Strong transcription	HSMMtube	muscle
26	chr11:57561200-57566400	Strong transcription	H1 Cell Line	embryonic stem cell
27	chr11:57561400-57564400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr11:57561400-57564600	Strong transcription	Brain Anterior Caudate	brain
29	chr11:57561400-57564800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr11:57561400-57565400	Strong transcription	Fetal Intestine Large	intestine
31	chr11:57561400-57566000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr11:57561400-57566000	Strong transcription	Skeletal Muscle Female	skeletal muscle
33	chr11:57561600-57564600	Strong transcription	A549	lung
34	chr11:57561600-57565400	Strong transcription	Fetal Intestine Small	intestine
35	chr11:57561600-57565600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr11:57561600-57565800	Strong transcription	Liver	Liver
37	chr11:57561600-57566000	Strong transcription	Fetal Muscle Leg	muscle
38	chr11:57561600-57566000	Genic enhancers	Rectal Mucosa Donor 31	rectum
39	chr11:57561600-57566200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr11:57561600-57566400	Strong transcription	Placenta	Placenta
41	chr11:57561600-57566600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr11:57561600-57566600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr11:57561600-57566600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr11:57561600-57568000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr11:57561600-57568000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr11:57561800-57564800	Strong transcription	Rectal Smooth Muscle	rectum
47	chr11:57561800-57565800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr11:57561800-57566200	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr11:57561800-57566600	Weak transcription	Primary neutrophils fromperipheralblood	blood
50	chr11:57562000-57565000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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