Variant report

Variant	rs10272006
Chromosome Location	chr7:21520132-21520133
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	chr7:21518649..21521288-chr7:21525941..21527838,2	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1013716	0.82[CHD][hapmap]
rs10269168	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11971316	1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs11983472	0.82[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12668354	1.00[ASW][hapmap];0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.95[TSI][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12672629	0.82[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12673091	0.86[CHD][hapmap]
rs12673975	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2158414	0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs2282888	0.83[CEU][hapmap];0.89[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.88[TSI][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2390539	0.86[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs28541530	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3735440	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.98[TSI][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs40245	0.83[CEU][hapmap];0.82[JPT][hapmap];0.83[ASN][1000 genomes]
rs41495348	0.85[MEX][hapmap];0.91[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4397283	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4722031	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4722033	0.85[ASN][1000 genomes]
rs6461561	0.86[ASW][hapmap];0.83[CEU][hapmap];0.85[CHD][hapmap];0.91[GIH][hapmap];0.82[JPT][hapmap];0.80[MEX][hapmap];0.93[TSI][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6461562	0.83[CEU][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6461565	0.83[CEU][hapmap];0.85[CHD][hapmap];0.82[GIH][hapmap]
rs6461567	0.91[CEU][hapmap];0.89[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs6461568	0.84[CEU][hapmap];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6948810	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6974974	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6978922	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7780553	0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7781732	0.86[CEU][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7792280	0.81[CEU][hapmap]
rs7796796	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7798894	0.87[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7810841	1.00[CEU][hapmap];0.80[MEX][hapmap];0.95[TSI][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7811417	0.92[CEU][hapmap];0.90[TSI][hapmap];0.87[EUR][1000 genomes]
rs7811539	0.93[CHD][hapmap]
rs9639377	1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9639378	0.83[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][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	nsv1027302	chr7:21391598-21727016	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv538800	chr7:21391598-21727016	Enhancers Genic enhancers Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1028434	chr7:21468437-21636671	ZNF genes & repeats Strong transcription Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv1023655	chr7:21486485-21727016	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv538801	chr7:21486485-21727016	ZNF genes & repeats Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
6	nsv830921	chr7:21489100-21688016	Strong transcription ZNF genes & repeats Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10272006	MACC1	cis	cerebellum	SCAN
rs10272006	TRA2A	cis	parietal	SCAN

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:21470400-21536400	Weak transcription	Esophagus	oesophagus
2	chr7:21474800-21520600	Weak transcription	Brain Angular Gyrus	brain
3	chr7:21487400-21557000	Weak transcription	Aorta	Aorta
4	chr7:21491000-21526800	Weak transcription	Brain Hippocampus Middle	brain
5	chr7:21491000-21536400	Weak transcription	Left Ventricle	heart
6	chr7:21492200-21545200	Weak transcription	Small Intestine	intestine
7	chr7:21493000-21539000	Weak transcription	Spleen	Spleen
8	chr7:21493800-21529600	Weak transcription	Brain Anterior Caudate	brain
9	chr7:21495200-21521600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr7:21496600-21521600	Weak transcription	Adipose Nuclei	Adipose
11	chr7:21497600-21520800	Weak transcription	HUVEC	blood vessel
12	chr7:21498200-21532400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr7:21498600-21543600	Weak transcription	Pancreas	Pancrea
14	chr7:21500000-21530400	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr7:21500000-21552800	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr7:21500200-21520600	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr7:21500200-21520800	Weak transcription	GM12878-XiMat	blood
18	chr7:21500400-21529800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr7:21501000-21527400	Weak transcription	Fetal Stomach	stomach
20	chr7:21501400-21520200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr7:21501400-21520600	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr7:21501400-21528800	Weak transcription	Thymus	Thymus
23	chr7:21501400-21531000	Weak transcription	Fetal Intestine Large	intestine
24	chr7:21502200-21521200	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr7:21503200-21532400	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr7:21503200-21532400	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr7:21504000-21532800	Weak transcription	Lung	lung
28	chr7:21505600-21536600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr7:21505800-21527400	Weak transcription	Ovary	ovary
30	chr7:21506200-21529800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr7:21508000-21521000	Weak transcription	Brain Cingulate Gyrus	brain
32	chr7:21510200-21530200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr7:21510400-21525400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr7:21510800-21531800	Weak transcription	Fetal Intestine Small	intestine
35	chr7:21511600-21531800	Weak transcription	Duodenum Mucosa	Duodenum
36	chr7:21512800-21529800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr7:21514000-21536400	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr7:21515400-21524000	Weak transcription	HSMM	muscle
39	chr7:21515400-21526400	Weak transcription	HepG2	liver
40	chr7:21515400-21528400	Weak transcription	Fetal Brain Male	brain
41	chr7:21515800-21522400	Weak transcription	Fetal Brain Female	brain
42	chr7:21516200-21521800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr7:21516200-21556400	Weak transcription	Brain Substantia Nigra	brain
44	chr7:21516400-21522800	Strong transcription	Primary B cells from cord blood	blood
45	chr7:21516400-21530400	Weak transcription	Fetal Muscle Leg	muscle
46	chr7:21516600-21521200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr7:21516600-21526000	Weak transcription	Fetal Heart	heart
48	chr7:21516800-21520400	Strong transcription	Primary hematopoietic stem cells	blood
49	chr7:21516800-21525000	Strong transcription	Primary B cells from peripheral blood	blood
50	chr7:21517000-21520600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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