Variant report

Variant	rs12847
Chromosome Location	chr7:8126194-8126195
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs6463759	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.84[MEX][hapmap];0.95[ASN][1000 genomes]
rs7801924	0.85[CEU][hapmap];0.96[MEX][hapmap];0.85[TSI][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	esv2752177	chr7:7729247-8177689	Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv917172	chr7:7854632-8807385	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	nsv1020686	chr7:8095118-8311985	Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv538723	chr7:8095118-8311985	Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	esv1009766	chr7:8106112-8134286	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12847	GLCCI1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:8066400-8127600	Weak transcription	Rectal Smooth Muscle	rectum
2	chr7:8067000-8135400	Weak transcription	Pancreas	Pancrea
3	chr7:8075000-8126800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr7:8075600-8131800	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr7:8085200-8128400	Weak transcription	Small Intestine	intestine
6	chr7:8091400-8127800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr7:8094000-8127800	Weak transcription	HSMM	muscle
8	chr7:8095400-8129600	Weak transcription	Gastric	stomach
9	chr7:8096000-8127600	Weak transcription	Esophagus	oesophagus
10	chr7:8096000-8151600	Weak transcription	Spleen	Spleen
11	chr7:8102800-8130000	Weak transcription	Fetal Lung	lung
12	chr7:8103000-8127800	Weak transcription	Fetal Brain Female	brain
13	chr7:8103000-8128000	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr7:8103000-8135400	Weak transcription	Duodenum Mucosa	Duodenum
15	chr7:8103200-8131400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr7:8106200-8126200	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr7:8106600-8128200	Weak transcription	Osteobl	bone
18	chr7:8109000-8128400	Weak transcription	Brain Substantia Nigra	brain
19	chr7:8109000-8131800	Weak transcription	Fetal Muscle Leg	muscle
20	chr7:8109000-8132800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr7:8109200-8128400	Weak transcription	Brain Hippocampus Middle	brain
22	chr7:8109200-8130400	Weak transcription	Brain Anterior Caudate	brain
23	chr7:8109200-8133400	Weak transcription	Fetal Intestine Small	intestine
24	chr7:8109200-8145200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr7:8109400-8128000	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr7:8109400-8128400	Weak transcription	Right Ventricle	heart
27	chr7:8111400-8126200	Weak transcription	Stomach Smooth Muscle	stomach
28	chr7:8111800-8126200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr7:8112400-8128000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr7:8115400-8130400	Weak transcription	Primary hematopoietic stem cells	blood
31	chr7:8116400-8126200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr7:8123200-8130800	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr7:8123400-8128400	Strong transcription	Dnd41	blood
34	chr7:8123400-8132000	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr7:8123600-8126200	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr7:8123600-8127800	Strong transcription	Primary B cells from peripheral blood	blood
37	chr7:8123600-8128800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr7:8123600-8131800	Weak transcription	HMEC	breast
39	chr7:8123800-8129400	Strong transcription	GM12878-XiMat	blood
40	chr7:8123800-8132200	Strong transcription	Primary B cells from cord blood	blood
41	chr7:8124000-8127800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr7:8124200-8126400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
43	chr7:8124200-8127800	Strong transcription	Primary T cells fromperipheralblood	blood
44	chr7:8124200-8129200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr7:8124200-8130400	Strong transcription	Fetal Thymus	thymus
46	chr7:8124400-8126400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr7:8124400-8127600	Strong transcription	Primary T cells from cord blood	blood
48	chr7:8124400-8129000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr7:8124400-8129400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr7:8124600-8126200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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