Variant report

Variant	rs10267982
Chromosome Location	chr7:6301021-6301022
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:6297633..6303584-chr7:6308773..6313501,5	K562	blood:
2	chr7:6295150..6302020-chr7:6308719..6313384,10	MCF-7	breast:
3	chr7:6300982..6303712-chr7:6310025..6312320,4	MCF-7	breast:
4	chr7:6248788..6250767-chr7:6299120..6301643,2	MCF-7	breast:
5	chr7:6298757..6301475-chr7:6305303..6307556,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000008256	Chromatin interaction

Extended variants
information (count: 75 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10046499	1.00[JPT][hapmap]
rs10224504	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10225119	1.00[JPT][hapmap]
rs10229323	1.00[EUR][1000 genomes]
rs10235115	1.00[EUR][1000 genomes]
rs10240510	1.00[JPT][hapmap]
rs10241174	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10244640	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap]
rs10245186	0.87[CHD][hapmap];1.00[JPT][hapmap]
rs10247585	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10252947	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes]
rs10253501	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes]
rs10255411	1.00[MEX][hapmap];0.86[AMR][1000 genomes]
rs10255662	1.00[JPT][hapmap]
rs10255914	1.00[JPT][hapmap]
rs10255944	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs10255947	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10261217	1.00[JPT][hapmap]
rs10268916	1.00[CHB][hapmap]
rs10271600	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10275021	1.00[JPT][hapmap]
rs10279137	1.00[JPT][hapmap]
rs10280585	1.00[JPT][hapmap]
rs11760468	1.00[EUR][1000 genomes]
rs11768047	1.00[JPT][hapmap]
rs11768749	1.00[JPT][hapmap];0.88[MKK][hapmap];1.00[EUR][1000 genomes]
rs12667392	1.00[JPT][hapmap]
rs13437890	1.00[JPT][hapmap]
rs17136048	1.00[JPT][hapmap]
rs34123833	1.00[EUR][1000 genomes]
rs59100979	1.00[EUR][1000 genomes]
rs59180903	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59568570	1.00[EUR][1000 genomes]
rs6463540	1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap]
rs6463541	1.00[JPT][hapmap]
rs6463544	1.00[JPT][hapmap]
rs6942707	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap]
rs6944071	1.00[JPT][hapmap]
rs6944216	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6946205	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6949823	1.00[JPT][hapmap]
rs6955065	0.87[CHD][hapmap];1.00[JPT][hapmap]
rs6960965	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6962767	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6969814	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6969863	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6976305	1.00[EUR][1000 genomes]
rs7777433	1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7780269	1.00[JPT][hapmap]
rs7783018	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7791225	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7800777	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7807841	1.00[CHB][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap]
rs836475	1.00[MEX][hapmap]
rs836496	1.00[MEX][hapmap]
rs836501	1.00[MEX][hapmap]
rs836524	1.00[MEX][hapmap]
rs836533	1.00[MEX][hapmap]
rs836537	1.00[MEX][hapmap]
rs958329	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533108	chr7:5488018-6316581	Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	390 gene(s)	inside rSNPs	diseases
2	nsv948912	chr7:5803903-6623553	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
3	nsv1034060	chr7:5814823-6745710	Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
4	nsv538711	chr7:5814823-6745710	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
5	nsv1028242	chr7:5819084-6645024	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	127 gene(s)	inside rSNPs	diseases
6	nsv538712	chr7:5819084-6645024	Weak transcription Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	127 gene(s)	inside rSNPs	diseases
7	nsv949531	chr7:5949371-6753694	Strong transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	129 gene(s)	inside rSNPs	diseases
8	nsv1021037	chr7:6070792-6426966	Strong transcription Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
9	nsv538713	chr7:6070792-6426966	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
10	nsv530989	chr7:6176729-6438197	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
11	nsv482829	chr7:6231809-6407606	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
12	nsv1032987	chr7:6246313-6373054	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
13	nsv538714	chr7:6246313-6373054	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
14	nsv1020236	chr7:6248930-6690377	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
15	nsv497874	chr7:6296768-6614902	Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10267982	SIRPG	trans	lymphoblastoid	seeQTL

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6288200-6310400	Weak transcription	Brain Angular Gyrus	brain
2	chr7:6288400-6306600	Weak transcription	Esophagus	oesophagus
3	chr7:6293000-6306400	Weak transcription	NHEK	skin
4	chr7:6293400-6306600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr7:6294200-6303200	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr7:6294400-6301200	Enhancers	Adipose Nuclei	Adipose
7	chr7:6296600-6303600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr7:6296800-6302600	Enhancers	NHLF	lung
9	chr7:6296800-6308400	Weak transcription	HMEC	breast
10	chr7:6297400-6301800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr7:6297600-6305400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr7:6298200-6302200	Weak transcription	Fetal Thymus	thymus
13	chr7:6298200-6306600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr7:6298400-6302000	Weak transcription	Small Intestine	intestine
15	chr7:6298400-6308600	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr7:6299000-6301400	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr7:6299000-6301800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr7:6299000-6301800	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr7:6299000-6302400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr7:6299000-6310400	Weak transcription	Primary B cells from cord blood	blood
21	chr7:6299200-6301800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr7:6299200-6301800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr7:6299200-6302000	Weak transcription	Primary hematopoietic stem cells	blood
24	chr7:6299200-6302000	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr7:6299200-6310600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr7:6299600-6301200	Enhancers	Fetal Muscle Trunk	muscle
27	chr7:6299600-6303400	Enhancers	Fetal Muscle Leg	muscle
28	chr7:6299800-6301200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr7:6299800-6302400	Enhancers	Fetal Stomach	stomach
30	chr7:6299800-6303400	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr7:6300000-6301200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
32	chr7:6300000-6301200	Enhancers	Ovary	ovary
33	chr7:6300000-6301200	Enhancers	Right Atrium	heart
34	chr7:6300000-6301200	Enhancers	Stomach Smooth Muscle	stomach
35	chr7:6300000-6301400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr7:6300000-6301400	Enhancers	Psoas Muscle	Psoas
37	chr7:6300000-6301600	Enhancers	Fetal Heart	heart
38	chr7:6300000-6302200	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr7:6300000-6302400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr7:6300000-6302600	Enhancers	Left Ventricle	heart
41	chr7:6300000-6302600	Enhancers	HSMM	muscle
42	chr7:6300000-6306800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr7:6300200-6308600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr7:6300200-6310200	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr7:6300400-6301800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr7:6300400-6303000	Weak transcription	Lung	lung
47	chr7:6300400-6306200	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr7:6300400-6306200	Weak transcription	Gastric	stomach
49	chr7:6300400-6307600	Weak transcription	Pancreas	Pancrea
50	chr7:6300400-6308400	Weak transcription	Rectal Mucosa Donor 31	rectum

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