Variant report

Variant	rs2229637
Chromosome Location	chr6:33643558-33643559
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:33638337..33641498-chr6:33643269..33645828,4	K562	blood:
2	chr6:33634324..33636697-chr6:33642308..33645021,2	MCF-7	breast:

Extended variants
information (count: 9 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs10947427	1.00[CHD][hapmap];0.85[GIH][hapmap]
rs12198325	0.82[YRI][hapmap];0.83[AFR][1000 genomes]

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	nsv830638	chr6:33551202-33711346	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	46 gene(s)	inside rSNPs	diseases
2	nsv830639	chr6:33592022-33711346	Strong transcription Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	30 gene(s)	inside rSNPs	diseases
3	nsv470811	chr6:33622933-33647651	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv602838	chr6:33624733-33650743	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	nsv885771	chr6:33626717-33660143	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	nsv522906	chr6:33638180-33647651	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv885772	chr6:33638180-33767727	Bivalent Enhancer Genic enhancers Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2229637	C6orf125	cis	cerebellum	SCAN
rs2229637	ITPR3	cis	multi-tissue	Pritchard

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33606800-33646600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr6:33613000-33659400	Strong transcription	Fetal Intestine Small	intestine
3	chr6:33613200-33660400	Strong transcription	Thymus	Thymus
4	chr6:33615000-33660800	Strong transcription	Fetal Intestine Large	intestine
5	chr6:33619600-33660800	Strong transcription	Rectal Mucosa Donor 29	rectum
6	chr6:33621000-33659400	Strong transcription	Duodenum Mucosa	Duodenum
7	chr6:33621400-33662200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
8	chr6:33621400-33672600	Strong transcription	Dnd41	blood
9	chr6:33622000-33660000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr6:33622400-33644400	Strong transcription	Gastric	stomach
11	chr6:33623200-33649000	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr6:33623400-33644000	Strong transcription	Fetal Stomach	stomach
13	chr6:33624600-33664800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr6:33625200-33645200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr6:33629000-33662800	Weak transcription	Colon Smooth Muscle	Colon
16	chr6:33630200-33651000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr6:33630400-33650800	Weak transcription	Ovary	ovary
18	chr6:33630400-33660800	Strong transcription	Rectal Mucosa Donor 31	rectum
19	chr6:33630600-33645800	Strong transcription	Fetal Thymus	thymus
20	chr6:33631600-33667000	Strong transcription	H9 Cell Line	embryonic stem cell
21	chr6:33631800-33649400	Strong transcription	Pancreas	Pancrea
22	chr6:33631800-33661200	Weak transcription	Liver	Liver
23	chr6:33636600-33660600	Strong transcription	Colonic Mucosa	Colon
24	chr6:33636800-33660200	Strong transcription	Lung	lung
25	chr6:33636800-33661400	Strong transcription	Sigmoid Colon	Sigmoid Colon
26	chr6:33637000-33643600	Weak transcription	K562	blood
27	chr6:33637000-33650000	Strong transcription	Primary T cells from cord blood	blood
28	chr6:33637200-33650400	Strong transcription	Primary T helper cells fromperipheralblood	blood
29	chr6:33637200-33650400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr6:33637400-33650400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr6:33637400-33661600	Strong transcription	Esophagus	oesophagus
32	chr6:33637600-33646400	Strong transcription	Primary B cells from peripheral blood	blood
33	chr6:33637600-33647000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr6:33637600-33650000	Strong transcription	Primary T helper cells PMA-I stimulated	--
35	chr6:33637600-33650200	Strong transcription	Primary T cells fromperipheralblood	blood
36	chr6:33637800-33650000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr6:33637800-33650400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr6:33638000-33652200	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr6:33638200-33659200	Weak transcription	Right Atrium	heart
40	chr6:33638800-33645400	Weak transcription	HepG2	liver
41	chr6:33638800-33650800	Strong transcription	Primary T helper naive cells from peripheral blood	blood
42	chr6:33639200-33645600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr6:33639400-33646000	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr6:33639600-33659200	Strong transcription	HUES6 Cell Line	embryonic stem cell
45	chr6:33640000-33669200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr6:33641000-33646000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr6:33641000-33646000	Genic enhancers	NHDF-Ad	bronchial
48	chr6:33641000-33647000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr6:33641000-33650600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr6:33641000-33667800	Strong transcription	iPS-15b Cell Line	embryonic stem cell

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