Variant report

Variant	rs3735457
Chromosome Location	chr7:8125531-8125532
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10226050	0.85[CEU][hapmap];0.87[YRI][hapmap]
rs10229643	0.82[CEU][hapmap];0.87[YRI][hapmap]
rs10231036	0.86[CEU][hapmap]
rs10241457	0.85[CEU][hapmap];0.96[YRI][hapmap]
rs10243846	0.82[CEU][hapmap];0.93[YRI][hapmap]
rs10246564	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs10273241	0.82[CEU][hapmap];0.93[YRI][hapmap]
rs10486205	0.82[CEU][hapmap];0.87[YRI][hapmap]
rs11976862	0.88[CEU][hapmap];0.93[YRI][hapmap]
rs12702693	0.92[CEU][hapmap];0.89[YRI][hapmap]
rs17568389	0.90[YRI][hapmap]
rs2109382	0.89[CEU][hapmap];0.80[JPT][hapmap];0.84[YRI][hapmap];0.81[AMR][1000 genomes]
rs2191321	0.82[CEU][hapmap];0.97[YRI][hapmap]
rs37974	0.80[YRI][hapmap]
rs37977	0.81[CEU][hapmap];0.93[YRI][hapmap]
rs37981	0.85[CEU][hapmap];0.96[YRI][hapmap]
rs37988	0.81[CEU][hapmap];0.83[YRI][hapmap]
rs37994	0.85[CEU][hapmap]
rs37995	0.85[CEU][hapmap];0.93[YRI][hapmap]
rs37998	0.85[CEU][hapmap];0.96[YRI][hapmap]
rs37999	0.82[CEU][hapmap];0.89[YRI][hapmap]
rs38001	0.81[AMR][1000 genomes]
rs38002	0.81[CEU][hapmap];0.97[YRI][hapmap]
rs38003	1.00[YRI][hapmap]
rs38004	0.81[YRI][hapmap];0.81[AMR][1000 genomes]
rs38010	0.81[CEU][hapmap]
rs38011	0.82[CEU][hapmap]
rs38012	0.85[CEU][hapmap];0.86[YRI][hapmap]
rs38013	0.85[CEU][hapmap];0.86[YRI][hapmap]
rs38014	0.82[CEU][hapmap];0.87[YRI][hapmap]
rs38018	0.85[CEU][hapmap];0.85[YRI][hapmap];0.81[AMR][1000 genomes]
rs38019	0.82[CEU][hapmap];0.93[YRI][hapmap];0.81[AMR][1000 genomes]
rs38021	0.82[CEU][hapmap];0.81[YRI][hapmap];0.81[AMR][1000 genomes]
rs38022	0.84[CEU][hapmap];0.84[YRI][hapmap]
rs4140809	0.88[CEU][hapmap];0.93[YRI][hapmap];0.80[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs4236406	0.95[CEU][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4720761	0.85[CEU][hapmap];0.96[YRI][hapmap]
rs4725060	0.82[CEU][hapmap];0.87[YRI][hapmap]
rs4725068	0.92[CEU][hapmap];0.86[CHB][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7785493	0.82[CEU][hapmap]
rs9692283	0.83[CEU][hapmap];1.00[YRI][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
rs3735457	GLCCI1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:98 , 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	chr7:8085200-8128400	Weak transcription	Small Intestine	intestine
8	chr7:8091400-8127800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr7:8094000-8127800	Weak transcription	HSMM	muscle
10	chr7:8095200-8125800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr7:8095400-8129600	Weak transcription	Gastric	stomach
12	chr7:8096000-8125800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr7:8096000-8127600	Weak transcription	Esophagus	oesophagus
14	chr7:8096000-8151600	Weak transcription	Spleen	Spleen
15	chr7:8102800-8130000	Weak transcription	Fetal Lung	lung
16	chr7:8103000-8127800	Weak transcription	Fetal Brain Female	brain
17	chr7:8103000-8128000	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr7:8103000-8135400	Weak transcription	Duodenum Mucosa	Duodenum
19	chr7:8103200-8131400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr7:8106000-8126000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr7:8106200-8126200	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr7:8106600-8128200	Weak transcription	Osteobl	bone
23	chr7:8107600-8126000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr7:8109000-8128400	Weak transcription	Brain Substantia Nigra	brain
25	chr7:8109000-8131800	Weak transcription	Fetal Muscle Leg	muscle
26	chr7:8109000-8132800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr7:8109200-8125800	Weak transcription	Fetal Stomach	stomach
28	chr7:8109200-8125800	Weak transcription	Left Ventricle	heart
29	chr7:8109200-8128400	Weak transcription	Brain Hippocampus Middle	brain
30	chr7:8109200-8130400	Weak transcription	Brain Anterior Caudate	brain
31	chr7:8109200-8133400	Weak transcription	Fetal Intestine Small	intestine
32	chr7:8109200-8145200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr7:8109400-8128000	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr7:8109400-8128400	Weak transcription	Right Ventricle	heart
35	chr7:8110800-8126000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr7:8111000-8125600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr7:8111200-8126000	Weak transcription	Ovary	ovary
38	chr7:8111200-8126000	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr7:8111400-8126200	Weak transcription	Stomach Smooth Muscle	stomach
40	chr7:8111800-8126200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr7:8112400-8128000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr7:8115400-8130400	Weak transcription	Primary hematopoietic stem cells	blood
43	chr7:8116400-8126200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr7:8123200-8125800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr7:8123200-8130800	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr7:8123400-8125600	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr7:8123400-8128400	Strong transcription	Dnd41	blood
48	chr7:8123400-8132000	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr7:8123600-8126200	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr7:8123600-8127800	Strong transcription	Primary B cells from peripheral blood	blood

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