Variant report

Variant	rs10253260
Chromosome Location	chr7:8115979-8115980
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:8115260..8117059-chr7:8119231..8121159,2	K562	blood:
2	chr7:8114373..8116452-chr7:8303024..8304587,2	K562	blood:
3	chr7:8115330..8116854-chr7:8119864..8121501,2	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10257285	1.00[CEU][hapmap];0.80[JPT][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10265283	0.92[CEU][hapmap];0.80[JPT][hapmap];0.92[YRI][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10272512	0.92[CEU][hapmap];0.83[YRI][hapmap];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1468594	1.00[ASW][hapmap];0.81[CHD][hapmap]
rs2159510	0.90[YRI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2191318	0.80[JPT][hapmap]
rs258851	0.83[YRI][hapmap]
rs28177	0.87[CEU][hapmap];0.82[AMR][1000 genomes]
rs35953256	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs37984	0.91[ASW][hapmap];0.92[CEU][hapmap];0.82[GIH][hapmap];0.95[MEX][hapmap];0.80[TSI][hapmap];0.82[AMR][1000 genomes]
rs37985	0.82[AMR][1000 genomes]
rs37990	0.92[CEU][hapmap];0.81[AMR][1000 genomes]
rs37991	0.86[AMR][1000 genomes]
rs38005	0.87[AMR][1000 genomes]
rs4725058	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4725063	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4725066	0.95[CEU][hapmap];0.83[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4725067	0.83[CEU][hapmap];1.00[YRI][hapmap]
rs4725069	0.91[ASW][hapmap];0.92[CEU][hapmap];0.87[CHD][hapmap];0.85[JPT][hapmap];0.86[MEX][hapmap];0.97[TSI][hapmap];0.92[EUR][1000 genomes]
rs6463754	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6463755	1.00[ASW][hapmap];1.00[CEU][hapmap];0.81[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6463759	0.84[CEU][hapmap]
rs6974264	0.92[CEU][hapmap];0.84[YRI][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6975078	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]
rs6975913	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6977376	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7777337	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7795506	0.83[ASW][hapmap];0.88[CEU][hapmap];0.84[CHD][hapmap];0.89[GIH][hapmap];0.80[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7798367	0.91[ASW][hapmap];0.92[CEU][hapmap];0.91[GIH][hapmap];1.00[MEX][hapmap];0.82[TSI][hapmap];0.83[YRI][hapmap];0.87[AMR][1000 genomes]
rs7806440	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs929509	0.95[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]

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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10253260	GLCCI1	Cis_1M	lymphoblastoid	RTeQTL
rs10253260	GLCCI1	cis	parietal	SCAN

Chromatin state (count:84 , 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	chr7:8066600-8126000	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr7:8067000-8135400	Weak transcription	Pancreas	Pancrea
4	chr7:8075000-8125800	Weak transcription	Lung	lung
5	chr7:8075000-8126800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr7:8075600-8131800	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr7:8076000-8124200	Weak transcription	Fetal Kidney	kidney
8	chr7:8085200-8128400	Weak transcription	Small Intestine	intestine
9	chr7:8091400-8127800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr7:8094000-8127800	Weak transcription	HSMM	muscle
11	chr7:8095200-8125800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr7:8095400-8129600	Weak transcription	Gastric	stomach
13	chr7:8096000-8125800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr7:8096000-8127600	Weak transcription	Esophagus	oesophagus
15	chr7:8096000-8151600	Weak transcription	Spleen	Spleen
16	chr7:8097400-8124600	Weak transcription	Fetal Intestine Large	intestine
17	chr7:8100400-8124600	Weak transcription	Liver	Liver
18	chr7:8100800-8125000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr7:8102800-8130000	Weak transcription	Fetal Lung	lung
20	chr7:8103000-8124600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr7:8103000-8125200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr7:8103000-8127800	Weak transcription	Fetal Brain Female	brain
23	chr7:8103000-8128000	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr7:8103000-8135400	Weak transcription	Duodenum Mucosa	Duodenum
25	chr7:8103200-8131400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr7:8104600-8125200	Weak transcription	Aorta	Aorta
27	chr7:8106000-8126000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr7:8106200-8126200	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr7:8106600-8128200	Weak transcription	Osteobl	bone
30	chr7:8107000-8117400	Strong transcription	Dnd41	blood
31	chr7:8107200-8124200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr7:8107600-8126000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr7:8109000-8117400	Strong transcription	Fetal Thymus	thymus
34	chr7:8109000-8118200	Weak transcription	Brain Angular Gyrus	brain
35	chr7:8109000-8125000	Weak transcription	Fetal Muscle Trunk	muscle
36	chr7:8109000-8128400	Weak transcription	Brain Substantia Nigra	brain
37	chr7:8109000-8131800	Weak transcription	Fetal Muscle Leg	muscle
38	chr7:8109000-8132800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr7:8109200-8116600	Weak transcription	Psoas Muscle	Psoas
40	chr7:8109200-8119400	Strong transcription	GM12878-XiMat	blood
41	chr7:8109200-8124000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr7:8109200-8124200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr7:8109200-8124400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr7:8109200-8125800	Weak transcription	Fetal Stomach	stomach
45	chr7:8109200-8125800	Weak transcription	Left Ventricle	heart
46	chr7:8109200-8128400	Weak transcription	Brain Hippocampus Middle	brain
47	chr7:8109200-8130400	Weak transcription	Brain Anterior Caudate	brain
48	chr7:8109200-8133400	Weak transcription	Fetal Intestine Small	intestine
49	chr7:8109200-8145200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr7:8109400-8118400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood

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