Variant report

Variant	rs4725066
Chromosome Location	chr7:8111345-8111346
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:8100196..8102661-chr7:8110334..8112577,2	K562	blood:
2	chr7:8106017..8108332-chr7:8110111..8112350,2	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10253260	0.95[CEU][hapmap];0.83[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10257285	0.96[CEU][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10265283	0.91[CEU][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10272512	0.87[CEU][hapmap];0.81[CHB][hapmap];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2159510	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2191318	0.93[CHB][hapmap];0.83[JPT][hapmap]
rs28177	0.83[CEU][hapmap];0.80[AMR][1000 genomes]
rs35953256	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs37984	0.86[CEU][hapmap];0.80[AMR][1000 genomes]
rs37985	0.80[AMR][1000 genomes]
rs37990	0.87[CEU][hapmap];0.81[CHB][hapmap]
rs37991	0.84[AMR][1000 genomes]
rs38005	0.85[AMR][1000 genomes]
rs4725058	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4725063	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4725067	0.82[CEU][hapmap]
rs4725069	0.86[CEU][hapmap];0.89[EUR][1000 genomes]
rs6463754	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6463755	0.95[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6974264	0.91[CEU][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6975078	0.91[CEU][hapmap];0.82[CHB][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6975913	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6977376	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7777337	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7795506	0.86[CEU][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7798367	0.86[CEU][hapmap];0.80[CHB][hapmap];0.85[AMR][1000 genomes]
rs7806440	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs929509	0.90[CEU][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv519058	chr7:8094604-8115794	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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
rs4725066	GLCCI1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:97 , 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	chr7:8075600-8113000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr7:8075600-8131800	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr7:8076000-8111800	Weak transcription	Fetal Brain Male	brain
9	chr7:8076000-8124200	Weak transcription	Fetal Kidney	kidney
10	chr7:8085200-8128400	Weak transcription	Small Intestine	intestine
11	chr7:8091400-8127800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr7:8094000-8127800	Weak transcription	HSMM	muscle
13	chr7:8095200-8125800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr7:8095400-8129600	Weak transcription	Gastric	stomach
15	chr7:8096000-8125800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr7:8096000-8127600	Weak transcription	Esophagus	oesophagus
17	chr7:8096000-8151600	Weak transcription	Spleen	Spleen
18	chr7:8097200-8114400	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr7:8097400-8124600	Weak transcription	Fetal Intestine Large	intestine
20	chr7:8099200-8113200	Strong transcription	Primary B cells from cord blood	blood
21	chr7:8100400-8124600	Weak transcription	Liver	Liver
22	chr7:8100600-8112800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr7:8100800-8125000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr7:8102400-8111800	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr7:8102600-8111800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr7:8102800-8130000	Weak transcription	Fetal Lung	lung
27	chr7:8103000-8124600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr7:8103000-8125200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr7:8103000-8127800	Weak transcription	Fetal Brain Female	brain
30	chr7:8103000-8128000	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr7:8103000-8135400	Weak transcription	Duodenum Mucosa	Duodenum
32	chr7:8103200-8131400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr7:8103600-8114800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr7:8104600-8125200	Weak transcription	Aorta	Aorta
35	chr7:8105600-8115400	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr7:8106000-8126000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr7:8106200-8126200	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr7:8106600-8111600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr7:8106600-8128200	Weak transcription	Osteobl	bone
40	chr7:8107000-8111600	Weak transcription	HSMMtube	muscle
41	chr7:8107000-8117400	Strong transcription	Dnd41	blood
42	chr7:8107200-8124200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr7:8107600-8126000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr7:8108200-8112200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr7:8108200-8112600	Strong transcription	Primary B cells from peripheral blood	blood
46	chr7:8109000-8113600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr7:8109000-8117400	Strong transcription	Fetal Thymus	thymus
48	chr7:8109000-8118200	Weak transcription	Brain Angular Gyrus	brain
49	chr7:8109000-8125000	Weak transcription	Fetal Muscle Trunk	muscle
50	chr7:8109000-8128400	Weak transcription	Brain Substantia Nigra	brain

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