Variant report

Variant	rs10281919
Chromosome Location	chr7:8061323-8061324
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:8043881..8046196-chr7:8058398..8061346,2	MCF-7	breast:

Extended variants
information (count: 37 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10226865	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10238003	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10253861	0.90[AMR][1000 genomes]
rs10264999	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10278726	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10278791	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11981372	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1476823	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs258850	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs258851	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs258852	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs37976	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs37979	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs37982	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs37986	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs37987	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs37996	0.81[EUR][1000 genomes]
rs37997	0.85[EUR][1000 genomes]
rs38000	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs38007	0.84[EUR][1000 genomes]
rs38008	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs38009	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs38015	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4725055	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4725056	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4725059	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6463753	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6953808	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7796831	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7808399	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7810540	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9655516	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][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	nsv1026758	chr7:7187491-8075259	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
2	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
3	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
4	esv3346837	chr7:7915187-8068557	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	nsv518779	chr7:8055664-8077359	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10281919	GLCCI1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:8036400-8077400	Weak transcription	Right Ventricle	heart
2	chr7:8036600-8064400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr7:8036600-8064400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr7:8036600-8074600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr7:8038000-8066000	Weak transcription	Pancreas	Pancrea
6	chr7:8038400-8066000	Weak transcription	Spleen	Spleen
7	chr7:8041600-8064400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr7:8041600-8095000	Weak transcription	Gastric	stomach
9	chr7:8041800-8075400	Weak transcription	Brain Hippocampus Middle	brain
10	chr7:8042800-8064400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr7:8043000-8099200	Weak transcription	Colon Smooth Muscle	Colon
12	chr7:8043600-8068400	Weak transcription	NH-A	brain
13	chr7:8043800-8064400	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr7:8043800-8064600	Weak transcription	Small Intestine	intestine
15	chr7:8044000-8062600	Weak transcription	Fetal Intestine Small	intestine
16	chr7:8044200-8063800	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr7:8044200-8066000	Weak transcription	Lung	lung
18	chr7:8044600-8074400	Weak transcription	Brain Angular Gyrus	brain
19	chr7:8044800-8064400	Weak transcription	Aorta	Aorta
20	chr7:8045200-8066000	Weak transcription	Fetal Brain Male	brain
21	chr7:8046800-8062800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr7:8046800-8064200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr7:8046800-8064400	Weak transcription	Ovary	ovary
24	chr7:8046800-8066000	Weak transcription	Left Ventricle	heart
25	chr7:8046800-8074400	Weak transcription	Brain Substantia Nigra	brain
26	chr7:8047000-8062200	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr7:8047000-8064000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr7:8047000-8066000	Weak transcription	Rectal Smooth Muscle	rectum
29	chr7:8047200-8062200	Weak transcription	Brain Anterior Caudate	brain
30	chr7:8047200-8062200	Weak transcription	Duodenum Mucosa	Duodenum
31	chr7:8047200-8063800	Weak transcription	Fetal Lung	lung
32	chr7:8047200-8064000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr7:8047200-8064000	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr7:8047200-8064000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr7:8047200-8064400	Weak transcription	Fetal Muscle Trunk	muscle
36	chr7:8047200-8065200	Weak transcription	Fetal Kidney	kidney
37	chr7:8047200-8065400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr7:8047200-8066000	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr7:8047200-8066200	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr7:8047400-8062400	Weak transcription	Brain Germinal Matrix	brain
41	chr7:8047400-8063400	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr7:8047400-8063400	Weak transcription	Stomach Smooth Muscle	stomach
43	chr7:8047400-8064000	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr7:8047400-8064400	Weak transcription	Fetal Brain Female	brain
45	chr7:8047400-8064400	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr7:8047400-8066000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr7:8047400-8066000	Weak transcription	Brain Cingulate Gyrus	brain
48	chr7:8047400-8066000	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr7:8047400-8075600	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr7:8047600-8064400	Weak transcription	Fetal Muscle Leg	muscle

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