Variant report

Variant	rs6975078
Chromosome Location	chr7:8091201-8091202
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10253260	0.96[CEU][hapmap];0.84[GIH][hapmap];0.86[MEX][hapmap];0.95[TSI][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10257285	0.96[CEU][hapmap];0.90[JPT][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10265283	0.96[CEU][hapmap];0.90[JPT][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10272512	0.96[CEU][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13223417	1.00[LWK][hapmap]
rs13223995	0.88[LWK][hapmap]
rs13245917	1.00[LWK][hapmap]
rs1468594	0.85[JPT][hapmap]
rs2159510	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2191318	0.82[CHB][hapmap];0.85[JPT][hapmap];0.83[ASN][1000 genomes]
rs28177	0.92[CEU][hapmap];0.82[AMR][1000 genomes]
rs35953256	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs37968	0.81[TSI][hapmap]
rs37984	0.96[CEU][hapmap];0.91[MEX][hapmap];0.86[TSI][hapmap];0.82[AMR][1000 genomes]
rs37985	0.82[AMR][1000 genomes]
rs37990	0.96[CEU][hapmap];0.81[AMR][1000 genomes]
rs37991	0.86[AMR][1000 genomes]
rs38005	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4725058	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4725063	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4725066	0.91[CEU][hapmap];0.82[CHB][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4725069	0.96[CEU][hapmap];0.85[JPT][hapmap];0.81[MEX][hapmap];0.93[TSI][hapmap];0.91[EUR][1000 genomes]
rs6463754	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6463755	0.96[CEU][hapmap];0.88[CHB][hapmap];0.86[CHD][hapmap];0.88[GIH][hapmap];0.90[JPT][hapmap];0.86[MEX][hapmap];0.95[TSI][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6463759	0.81[CEU][hapmap]
rs6974264	0.96[CEU][hapmap];0.90[JPT][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6975913	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6977376	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7777337	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7795506	0.92[CEU][hapmap];0.86[GIH][hapmap];0.90[JPT][hapmap];0.86[MEX][hapmap];0.95[TSI][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7798367	0.96[CEU][hapmap];0.84[GIH][hapmap];0.86[MEX][hapmap];0.83[TSI][hapmap];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7801299	0.88[LWK][hapmap]
rs7806440	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs929509	1.00[CEU][hapmap];0.85[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6975078	GLCCI1	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:8041600-8095000	Weak transcription	Gastric	stomach
2	chr7:8043000-8099200	Weak transcription	Colon Smooth Muscle	Colon
3	chr7:8047600-8108200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr7:8064400-8096200	Weak transcription	NHLF	lung
5	chr7:8065000-8095000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr7:8065000-8108600	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr7:8066400-8096600	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr7:8066400-8127600	Weak transcription	Rectal Smooth Muscle	rectum
9	chr7:8066600-8099800	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr7:8066600-8126000	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr7:8066800-8095000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr7:8066800-8095600	Weak transcription	Duodenum Mucosa	Duodenum
13	chr7:8066800-8099800	Weak transcription	Brain Anterior Caudate	brain
14	chr7:8066800-8108600	Weak transcription	Brain Cingulate Gyrus	brain
15	chr7:8067000-8091800	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr7:8067000-8135400	Weak transcription	Pancreas	Pancrea
17	chr7:8067200-8095600	Weak transcription	Fetal Lung	lung
18	chr7:8067600-8095800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr7:8068000-8095600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr7:8069800-8095800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr7:8075000-8108600	Weak transcription	Psoas Muscle	Psoas
22	chr7:8075000-8125800	Weak transcription	Lung	lung
23	chr7:8075000-8126800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr7:8075600-8095000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr7:8075600-8095000	Weak transcription	Aorta	Aorta
26	chr7:8075600-8095000	Weak transcription	Ovary	ovary
27	chr7:8075600-8095200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr7:8075600-8101400	Weak transcription	K562	blood
29	chr7:8075600-8104400	Weak transcription	HMEC	breast
30	chr7:8075600-8105000	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr7:8075600-8113000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr7:8075600-8131800	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr7:8075800-8095200	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr7:8075800-8095400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr7:8076000-8095000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr7:8076000-8095000	Weak transcription	Fetal Intestine Large	intestine
37	chr7:8076000-8111800	Weak transcription	Fetal Brain Male	brain
38	chr7:8076000-8124200	Weak transcription	Fetal Kidney	kidney
39	chr7:8076200-8102200	Weak transcription	Fetal Brain Female	brain
40	chr7:8076200-8108400	Weak transcription	Brain Angular Gyrus	brain
41	chr7:8076800-8095600	Weak transcription	Primary hematopoietic stem cells	blood
42	chr7:8077000-8095000	Weak transcription	Adipose Nuclei	Adipose
43	chr7:8077000-8095000	Weak transcription	Fetal Muscle Leg	muscle
44	chr7:8077200-8095000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr7:8077200-8095000	Weak transcription	Brain Hippocampus Middle	brain
46	chr7:8077200-8095000	Weak transcription	Left Ventricle	heart
47	chr7:8077200-8096600	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr7:8077200-8103200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr7:8077200-8106800	Weak transcription	Fetal Heart	heart
50	chr7:8077400-8095000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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