Variant report

Variant	rs7104422
Chromosome Location	chr11:5686085-5686086
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:5680226..5683046-chr11:5685240..5687939,3	K562	blood:
2	chr11:5525180..5526949-chr11:5684292..5686176,2	K562	blood:
3	chr11:5681199..5682930-chr11:5685380..5687326,2	K562	blood:

Variant related genes	Relation type
ENSG00000196565	Chromatin interaction
ENSG00000167355	Chromatin interaction
ENSG00000213931	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10769086	1.00[CHB][hapmap]
rs11038171	1.00[CHB][hapmap]
rs2341430	1.00[CHB][hapmap]
rs393044	1.00[CHB][hapmap]
rs6578662	1.00[CHB][hapmap]
rs6578663	1.00[CHB][hapmap]
rs7924363	1.00[CHB][hapmap]
rs7924810	1.00[CHB][hapmap]
rs9804611	1.00[CHB][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	nsv1046068	chr11:5335943-6063742	Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
2	nsv896939	chr11:5497799-5809548	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	nsv553241	chr11:5506034-6203685	Genic enhancers Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
4	nsv1041568	chr11:5585716-5765688	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv1053414	chr11:5612989-6030212	Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
6	nsv530216	chr11:5614439-6468232	Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
7	nsv553273	chr11:5639873-5871831	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:5647000-5698800	Weak transcription	Colonic Mucosa	Colon
2	chr11:5647400-5689400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr11:5647800-5690600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr11:5649200-5695600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr11:5656400-5688800	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr11:5664000-5686200	Weak transcription	Small Intestine	intestine
7	chr11:5664000-5686200	Weak transcription	Thymus	Thymus
8	chr11:5664000-5699400	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr11:5666400-5690800	Weak transcription	Lung	lung
10	chr11:5666400-5699400	Weak transcription	Left Ventricle	heart
11	chr11:5673800-5686200	Weak transcription	Aorta	Aorta
12	chr11:5674800-5705400	Weak transcription	Psoas Muscle	Psoas
13	chr11:5676000-5699400	Weak transcription	Pancreas	Pancrea
14	chr11:5678000-5699400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr11:5681200-5689000	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr11:5681400-5686200	Weak transcription	NH-A	brain
17	chr11:5681400-5699400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr11:5681600-5699400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr11:5682000-5689600	Weak transcription	Fetal Intestine Small	intestine
20	chr11:5682400-5691800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr11:5682600-5693800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
22	chr11:5682800-5689600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
23	chr11:5682800-5692400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr11:5682800-5693000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr11:5682800-5693800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr11:5682800-5696400	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr11:5682800-5696800	Strong transcription	Liver	Liver
28	chr11:5683000-5695800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr11:5683200-5687600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr11:5683400-5687600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr11:5683600-5688600	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr11:5683600-5692600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr11:5683800-5696800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr11:5683800-5696800	Strong transcription	Primary monocytes fromperipheralblood	blood
35	chr11:5684000-5686600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr11:5684000-5689200	Strong transcription	Fetal Muscle Leg	muscle
37	chr11:5684000-5692400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr11:5684000-5700000	Weak transcription	Right Ventricle	heart
39	chr11:5684000-5705400	Weak transcription	Brain Substantia Nigra	brain
40	chr11:5684200-5687000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr11:5684200-5689200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr11:5684200-5705400	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr11:5684400-5688800	Weak transcription	Hela-S3	cervix
44	chr11:5684400-5695600	Weak transcription	Gastric	stomach
45	chr11:5684400-5698800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr11:5684600-5686200	Weak transcription	NHEK	skin
47	chr11:5684600-5686400	Weak transcription	K562	blood
48	chr11:5684600-5686800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr11:5684600-5690600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr11:5684600-5690800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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