Variant report

Variant	rs7357
Chromosome Location	chr11:33730261-33730262
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:33722591..33725977-chr11:33729219..33731745,3	MCF-7	breast:
2	chr11:33730057..33732913-chr11:33741218..33744001,2	MCF-7	breast:
3	chr11:33713906..33715824-chr11:33729975..33731538,2	MCF-7	breast:
4	chr11:33730241..33733771-chr11:33754827..33758431,3	K562	blood:
5	chr11:33722219..33726232-chr11:33726761..33732163,6	K562	blood:
6	chr11:33728871..33731814-chr11:33757804..33759607,3	MCF-7	breast:
7	chr11:33729551..33732086-chr11:33743744..33746634,3	K562	blood:

Variant related genes	Relation type
ENSG00000205177	Chromatin interaction
ENSG00000085063	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1047581	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.84[MEX][hapmap];1.00[TSI][hapmap]
rs11032350	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs11032363	1.00[CHB][hapmap];0.93[CHD][hapmap]
rs12364970	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1402953	1.00[CHB][hapmap];0.93[CHD][hapmap]
rs1546727	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs3181274	1.00[CHB][hapmap]
rs4755893	1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[JPT][hapmap];0.86[TSI][hapmap]
rs7117382	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];0.88[TSI][hapmap]
rs842	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832113	chr11:33609202-33767781	Transcr. at gene 5' and 3' Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7357	HIPK3	cis	cerebellum	SCAN
rs7357	CAPRIN1	cis	cerebellum	SCAN
rs7357	FSHB	cis	parietal	SCAN

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:33722800-33730600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr11:33723000-33730600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:33723000-33746000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr11:33723200-33730400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr11:33723200-33730600	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr11:33723200-33730600	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr11:33723200-33730600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr11:33723200-33731000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr11:33723200-33731200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr11:33723200-33737400	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr11:33723200-33744400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr11:33723200-33744400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr11:33723400-33731000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr11:33723400-33731200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr11:33723400-33735000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr11:33723400-33741400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr11:33723400-33745000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr11:33723400-33745800	Weak transcription	Primary B cells from peripheral blood	blood
19	chr11:33723400-33746000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr11:33723400-33753400	Weak transcription	Primary B cells from cord blood	blood
21	chr11:33723600-33730600	Weak transcription	Fetal Brain Female	brain
22	chr11:33723800-33730800	Weak transcription	Fetal Heart	heart
23	chr11:33724000-33731000	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr11:33724200-33731000	Weak transcription	Brain Germinal Matrix	brain
25	chr11:33724400-33731200	Genic enhancers	NHEK	skin
26	chr11:33725600-33731800	Genic enhancers	Left Ventricle	heart
27	chr11:33725800-33731200	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr11:33725800-33732000	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr11:33725800-33732200	Genic enhancers	Muscle Satellite Cultured Cells	--
30	chr11:33726000-33730600	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr11:33726000-33731600	Genic enhancers	HMEC	breast
32	chr11:33726000-33732000	Genic enhancers	A549	lung
33	chr11:33726000-33732400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr11:33726000-33733200	Strong transcription	Fetal Stomach	stomach
35	chr11:33726200-33731400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr11:33726200-33732400	Genic enhancers	HUVEC	blood vessel
37	chr11:33726400-33731600	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr11:33726400-33732000	Genic enhancers	Hela-S3	cervix
39	chr11:33726400-33739800	Strong transcription	Fetal Muscle Trunk	muscle
40	chr11:33726600-33731600	Genic enhancers	Adipose Nuclei	Adipose
41	chr11:33726600-33732000	Strong transcription	Aorta	Aorta
42	chr11:33726600-33732000	Strong transcription	Thymus	Thymus
43	chr11:33726600-33734200	Strong transcription	K562	blood
44	chr11:33726800-33731400	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr11:33726800-33731800	Strong transcription	Ovary	ovary
46	chr11:33726800-33736000	Strong transcription	HSMMtube	muscle
47	chr11:33726800-33741400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr11:33727000-33732200	Strong transcription	Rectal Mucosa Donor 31	rectum
49	chr11:33727000-33735000	Strong transcription	NH-A	brain
50	chr11:33727000-33738200	Strong transcription	HSMM	muscle

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