Variant report

Variant	rs7952678
Chromosome Location	chr11:46641303-46641304
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:46639444..46641700-chr11:46721393..46724232,2	K562	blood:
2	chr11:46477611..46479570-chr11:46639487..46642071,2	MCF-7	breast:
3	chr11:46640828..46643526-chr11:46650307..46653005,2	K562	blood:
4	chr11:46631028..46633325-chr11:46640915..46642885,2	K562	blood:

Variant related genes	Relation type
ENSG00000175213	Chromatin interaction
ENSG00000175220	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10838614	1.00[CHD][hapmap]
rs11038901	1.00[ASW][hapmap];0.96[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs11038916	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs11038934	0.86[ASW][hapmap];0.93[LWK][hapmap];0.80[MKK][hapmap];1.00[AMR][1000 genomes]
rs11038967	0.86[MKK][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes]
rs11038975	1.00[CHD][hapmap];1.00[MEX][hapmap]
rs11601182	1.00[CHD][hapmap]
rs11819818	1.00[ASW][hapmap];0.96[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11821531	0.93[LWK][hapmap];0.83[YRI][hapmap]
rs12276664	0.91[YRI][hapmap];0.83[AMR][1000 genomes]
rs12278517	1.00[ASW][hapmap];0.96[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12278651	1.00[AMR][1000 genomes]
rs12285637	0.83[AMR][1000 genomes]
rs12287998	1.00[MEX][hapmap]
rs12290327	1.00[ASW][hapmap];0.96[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs12292399	1.00[YRI][hapmap]
rs12576204	1.00[MEX][hapmap]
rs3136452	0.86[ASW][hapmap];0.90[YRI][hapmap];1.00[AMR][1000 genomes]
rs3136455	0.86[ASW][hapmap];0.91[YRI][hapmap];1.00[AMR][1000 genomes]
rs3136483	1.00[AMR][1000 genomes]
rs35569076	1.00[MEX][hapmap]
rs7113194	0.91[YRI][hapmap];0.83[AMR][1000 genomes]
rs7129348	0.83[YRI][hapmap]
rs7942614	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044225	chr11:46472580-46771102	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv541030	chr11:46472580-46771102	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1046990	chr11:46501436-46669636	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv541031	chr11:46501436-46669636	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv897321	chr11:46515902-46673344	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46639800-46645600	Weak transcription	Aorta	Aorta
2	chr11:46640000-46641600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr11:46640000-46641600	Weak transcription	Fetal Muscle Trunk	muscle
4	chr11:46640000-46641800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr11:46640000-46642000	Weak transcription	Left Ventricle	heart
6	chr11:46640000-46642800	Weak transcription	Lung	lung
7	chr11:46640000-46644200	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr11:46640000-46651400	Weak transcription	Gastric	stomach
9	chr11:46640000-46664200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:46640000-46670800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr11:46640200-46641600	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr11:46640200-46641600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr11:46640200-46641800	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr11:46640200-46642000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr11:46640200-46642200	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr11:46640200-46642400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr11:46640200-46643400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr11:46640200-46651800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr11:46640400-46643000	Genic enhancers	Primary T cells fromperipheralblood	blood
20	chr11:46640600-46641400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr11:46640600-46641400	Weak transcription	Pancreas	Pancrea
22	chr11:46640600-46641600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr11:46640600-46641600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr11:46640600-46641600	Enhancers	Brain Hippocampus Middle	brain
25	chr11:46640600-46641600	Enhancers	Thymus	Thymus
26	chr11:46640600-46645800	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr11:46640600-46646200	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr11:46640600-46651200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr11:46640600-46651800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr11:46640600-46651800	Weak transcription	Fetal Brain Male	brain
31	chr11:46640600-46667200	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr11:46640600-46667200	Weak transcription	Psoas Muscle	Psoas
33	chr11:46640800-46641400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr11:46640800-46641400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr11:46640800-46641400	Enhancers	Brain Germinal Matrix	brain
36	chr11:46640800-46641400	Genic enhancers	Fetal Intestine Small	intestine
37	chr11:46640800-46641400	Enhancers	Stomach Smooth Muscle	stomach
38	chr11:46640800-46641600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr11:46640800-46641600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr11:46640800-46641600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr11:46640800-46641600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr11:46640800-46641600	Weak transcription	Fetal Muscle Leg	muscle
43	chr11:46640800-46641600	Enhancers	HepG2	liver
44	chr11:46640800-46641800	Weak transcription	Primary monocytes fromperipheralblood	blood
45	chr11:46640800-46641800	Enhancers	Brain Inferior Temporal Lobe	brain
46	chr11:46640800-46641800	Weak transcription	Colonic Mucosa	Colon
47	chr11:46640800-46641800	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr11:46640800-46641800	Enhancers	Stomach Mucosa	stomach
49	chr11:46640800-46642000	Weak transcription	Primary neutrophils fromperipheralblood	blood
50	chr11:46640800-46642000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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