Variant report

Variant	rs10495571
Chromosome Location	chr2:9736066-9736067
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:9729940..9731942-chr2:9735786..9737660,2	MCF-7	breast:
2	chr2:9735508..9738809-chr2:9769718..9772514,3	MCF-7	breast:
3	chr2:9729625..9733750-chr2:9734391..9737280,4	K562	blood:
4	chr2:9732505..9736094-chr2:9769784..9772309,4	MCF-7	breast:
5	chr2:9735520..9737713-chr2:9751112..9753286,2	MCF-7	breast:
6	chr2:9729553..9733750-chr2:9733992..9737827,4	K562	blood:

Variant related genes	Relation type
ENSG00000134308	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10495572	1.00[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];0.86[GIH][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10495573	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11676903	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[YRI][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11692112	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11694314	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16867083	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17362734	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17362839	0.95[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17362902	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17453675	0.95[CEU][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17453724	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17453752	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55883249	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56372340	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs57234614	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57407838	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60319753	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60726087	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62119391	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62119392	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62119393	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62119422	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62119423	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62119428	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs62119429	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs62119431	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62119432	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62119433	0.96[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv580915	chr2:9308148-9844178	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS 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	70 gene(s)	inside rSNPs	diseases
2	nsv214045	chr2:9734039-9742991	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10495571	IAH1	cis	parietal	SCAN
rs10495571	ADAM17	cis	parietal	SCAN

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:9696800-9767600	Weak transcription	Gastric	stomach
2	chr2:9719200-9747800	Weak transcription	Lung	lung
3	chr2:9723400-9736200	Strong transcription	Dnd41	blood
4	chr2:9723800-9739800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr2:9726000-9739800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr2:9728400-9739400	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr2:9728600-9739200	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr2:9728800-9739200	Weak transcription	Colonic Mucosa	Colon
9	chr2:9729600-9736800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr2:9729800-9738200	Weak transcription	Thymus	Thymus
11	chr2:9730400-9736600	Weak transcription	HUVEC	blood vessel
12	chr2:9730400-9736800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr2:9730400-9738400	Weak transcription	Fetal Stomach	stomach
14	chr2:9730600-9738200	Weak transcription	Brain Germinal Matrix	brain
15	chr2:9731200-9737800	Weak transcription	Fetal Brain Female	brain
16	chr2:9731800-9738400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr2:9732000-9736800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr2:9732200-9736600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
19	chr2:9732200-9736800	Weak transcription	Fetal Muscle Leg	muscle
20	chr2:9732200-9736800	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr2:9732200-9738200	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr2:9732200-9738200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr2:9732200-9738200	Weak transcription	Fetal Muscle Trunk	muscle
24	chr2:9732200-9738200	Weak transcription	Fetal Thymus	thymus
25	chr2:9732200-9738400	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr2:9732200-9738400	Weak transcription	Primary B cells from cord blood	blood
27	chr2:9732200-9738400	Weak transcription	Fetal Kidney	kidney
28	chr2:9732200-9739000	Weak transcription	Liver	Liver
29	chr2:9732200-9739400	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr2:9732200-9739400	Weak transcription	Psoas Muscle	Psoas
31	chr2:9732400-9736800	Weak transcription	Fetal Intestine Large	intestine
32	chr2:9732400-9738400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr2:9732400-9738400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr2:9732400-9738400	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr2:9732400-9747600	Weak transcription	Placenta	Placenta
36	chr2:9732600-9738800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr2:9732800-9737000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr2:9732800-9738200	Weak transcription	Fetal Lung	lung
39	chr2:9733000-9736400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
40	chr2:9733400-9736400	Enhancers	Primary T helper cells PMA-I stimulated	--
41	chr2:9733400-9737200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr2:9733400-9738200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr2:9733600-9736200	Enhancers	HSMMtube	muscle
44	chr2:9733800-9736200	Enhancers	HMEC	breast
45	chr2:9733800-9737200	Enhancers	Skeletal Muscle Female	skeletal muscle
46	chr2:9734000-9738200	Weak transcription	Left Ventricle	heart
47	chr2:9734000-9748000	Weak transcription	Pancreas	Pancrea
48	chr2:9734200-9736600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
49	chr2:9734200-9737000	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr2:9734200-9737000	Enhancers	Brain Hippocampus Middle	brain

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