Variant report

Variant	rs4725063
Chromosome Location	chr7:8106846-8106847
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Extended variants
information (count: 32 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10253260	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10257285	0.85[EUR][1000 genomes]
rs10265283	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10272512	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2159510	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28177	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs35953256	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs37984	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs37985	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs37990	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs37991	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs38005	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4725058	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4725066	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6463754	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6463755	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6943211	0.81[EUR][1000 genomes]
rs6974264	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6975078	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6975913	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6977376	0.83[EUR][1000 genomes]
rs7777337	0.85[EUR][1000 genomes]
rs7795506	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7798367	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7806440	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs929509	0.88[AMR][1000 genomes];0.85[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
rs4725063	GLCCI1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:8047600-8108200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr7:8065000-8108600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr7:8066400-8127600	Weak transcription	Rectal Smooth Muscle	rectum
4	chr7:8066600-8126000	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr7:8066800-8108600	Weak transcription	Brain Cingulate Gyrus	brain
6	chr7:8067000-8135400	Weak transcription	Pancreas	Pancrea
7	chr7:8075000-8108600	Weak transcription	Psoas Muscle	Psoas
8	chr7:8075000-8125800	Weak transcription	Lung	lung
9	chr7:8075000-8126800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr7:8075600-8113000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr7:8075600-8131800	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr7:8076000-8111800	Weak transcription	Fetal Brain Male	brain
13	chr7:8076000-8124200	Weak transcription	Fetal Kidney	kidney
14	chr7:8076200-8108400	Weak transcription	Brain Angular Gyrus	brain
15	chr7:8085200-8109000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr7:8085200-8128400	Weak transcription	Small Intestine	intestine
17	chr7:8088600-8108400	Weak transcription	Brain Substantia Nigra	brain
18	chr7:8088600-8108600	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr7:8091400-8127800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr7:8092000-8108600	Weak transcription	Right Ventricle	heart
21	chr7:8092400-8108600	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr7:8092600-8108600	Weak transcription	Right Atrium	heart
23	chr7:8094000-8127800	Weak transcription	HSMM	muscle
24	chr7:8095200-8108600	Weak transcription	Left Ventricle	heart
25	chr7:8095200-8125800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr7:8095400-8129600	Weak transcription	Gastric	stomach
27	chr7:8095600-8108600	Weak transcription	Fetal Muscle Trunk	muscle
28	chr7:8095800-8108600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr7:8096000-8108600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr7:8096000-8125800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr7:8096000-8127600	Weak transcription	Esophagus	oesophagus
32	chr7:8096000-8151600	Weak transcription	Spleen	Spleen
33	chr7:8096200-8108400	Weak transcription	Fetal Muscle Leg	muscle
34	chr7:8096400-8108600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr7:8097200-8108200	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr7:8097200-8114400	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr7:8097400-8124600	Weak transcription	Fetal Intestine Large	intestine
38	chr7:8099200-8113200	Strong transcription	Primary B cells from cord blood	blood
39	chr7:8100200-8108400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr7:8100400-8124600	Weak transcription	Liver	Liver
41	chr7:8100600-8108400	Weak transcription	Brain Anterior Caudate	brain
42	chr7:8100600-8112800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr7:8100800-8125000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr7:8101600-8108400	Weak transcription	Primary T cells fromperipheralblood	blood
45	chr7:8102400-8110400	Weak transcription	Primary T helper cells fromperipheralblood	blood
46	chr7:8102400-8111800	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chr7:8102600-8108200	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr7:8102600-8108400	Weak transcription	Brain Hippocampus Middle	brain
49	chr7:8102600-8111800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr7:8102800-8110400	Weak transcription	Rectal Mucosa Donor 29	rectum

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