Variant report

Variant	rs10252990
Chromosome Location	chr7:87459951-87459952
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:87455537..87457692-chr7:87459322..87461659,2	K562	blood:
2	chr7:87458484..87460611-chr7:87462209..87463941,2	K562	blood:

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs1015415	1.00[CEU][hapmap]
rs10215700	0.95[EUR][1000 genomes]
rs10215973	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10226830	0.86[EUR][1000 genomes]
rs10226849	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10227951	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10230718	0.95[EUR][1000 genomes]
rs10232457	1.00[CEU][hapmap];0.95[CHD][hapmap];0.82[GIH][hapmap];0.93[TSI][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10237097	1.00[ASW][hapmap];0.87[CEU][hapmap];0.95[CHD][hapmap];0.82[GIH][hapmap];0.82[JPT][hapmap];0.89[LWK][hapmap];0.98[MKK][hapmap];0.93[TSI][hapmap];0.91[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10237201	1.00[CEU][hapmap];0.81[CHB][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10238564	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10239908	1.00[CEU][hapmap];0.95[CHD][hapmap];0.82[GIH][hapmap];0.93[TSI][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10239922	0.91[EUR][1000 genomes]
rs10244734	0.91[EUR][1000 genomes]
rs10245767	1.00[CEU][hapmap];0.93[TSI][hapmap];0.95[EUR][1000 genomes]
rs10246786	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHD][hapmap];0.82[GIH][hapmap];0.93[LWK][hapmap];1.00[MKK][hapmap];0.93[TSI][hapmap];0.86[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10247258	0.95[EUR][1000 genomes]
rs10253106	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.93[TSI][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10259182	0.95[EUR][1000 genomes]
rs10260007	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHD][hapmap];0.82[GIH][hapmap];0.93[LWK][hapmap];1.00[MKK][hapmap];0.93[TSI][hapmap];0.91[YRI][hapmap];0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10264856	0.86[ASW][hapmap];1.00[CEU][hapmap];0.90[CHD][hapmap];0.82[GIH][hapmap];0.93[TSI][hapmap];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10268868	0.95[EUR][1000 genomes]
rs10269158	1.00[CEU][hapmap];0.93[TSI][hapmap];1.00[EUR][1000 genomes]
rs10276499	0.86[ASW][hapmap];1.00[CEU][hapmap];0.90[CHD][hapmap];0.82[GIH][hapmap];0.93[TSI][hapmap];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10276819	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHD][hapmap];0.82[GIH][hapmap];0.89[LWK][hapmap];0.98[MKK][hapmap];0.93[TSI][hapmap];0.91[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10952899	1.00[CEU][hapmap];0.90[YRI][hapmap];0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12532279	0.95[EUR][1000 genomes]
rs12532941	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12533477	1.00[CEU][hapmap];0.93[TSI][hapmap];0.95[EUR][1000 genomes]
rs12539395	0.86[ASW][hapmap];1.00[CEU][hapmap];0.95[CHD][hapmap];0.90[GIH][hapmap];0.93[TSI][hapmap];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12540032	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12540931	1.00[CEU][hapmap]
rs12669619	1.00[CEU][hapmap];0.95[CHD][hapmap];0.82[GIH][hapmap];0.92[TSI][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13438651	1.00[CEU][hapmap];0.86[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17149864	1.00[CEU][hapmap];0.93[TSI][hapmap];0.91[EUR][1000 genomes]
rs17150009	1.00[CEU][hapmap];0.86[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2073985	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2106522	0.91[EUR][1000 genomes]
rs2157926	0.85[ASW][hapmap];1.00[CEU][hapmap];0.82[GIH][hapmap];0.93[TSI][hapmap];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2157929	1.00[CEU][hapmap]
rs2188527	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2188828	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2214101	1.00[CEU][hapmap];0.93[TSI][hapmap];0.91[EUR][1000 genomes]
rs2214106	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2285646	1.00[CEU][hapmap];0.91[YRI][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2285649	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2373574	0.93[EUR][1000 genomes]
rs28437979	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28449219	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28449354	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28537604	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28546778	0.95[EUR][1000 genomes]
rs28627774	0.95[EUR][1000 genomes]
rs28642834	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28645115	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28774398	0.95[EUR][1000 genomes]
rs28831998	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58638862	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59058733	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6465117	0.91[EUR][1000 genomes]
rs6465118	0.87[CEU][hapmap];0.93[TSI][hapmap]
rs6948061	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6951067	0.86[ASW][hapmap];1.00[CEU][hapmap];0.90[CHD][hapmap];0.82[GIH][hapmap];0.93[TSI][hapmap]
rs6952943	1.00[CEU][hapmap];0.93[TSI][hapmap];0.95[EUR][1000 genomes]
rs6972098	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73706914	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73706916	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73706922	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73706924	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73706950	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7790722	1.00[CEU][hapmap];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7798074	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHD][hapmap];0.82[GIH][hapmap];0.89[LWK][hapmap];0.98[MKK][hapmap];0.93[TSI][hapmap];0.91[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7801337	1.00[CEU][hapmap];0.88[LWK][hapmap];0.91[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9655954	0.95[EUR][1000 genomes]
rs9655955	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs976602	0.95[EUR][1000 genomes]
rs992422	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[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	nsv888677	chr7:86802025-87781111	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv464622	chr7:86832603-87541248	Weak transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv607725	chr7:86832603-87541248	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv1015862	chr7:87075394-88049798	Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	nsv1023352	chr7:87418818-88192925	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv539005	chr7:87418818-88192925	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:87455000-87474200	Weak transcription	Left Ventricle	heart
2	chr7:87455200-87473000	Weak transcription	Liver	Liver
3	chr7:87455200-87486600	Weak transcription	Brain Germinal Matrix	brain
4	chr7:87455400-87474200	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr7:87457200-87460200	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr7:87457400-87460600	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr7:87457400-87474200	Weak transcription	Aorta	Aorta
8	chr7:87457800-87474200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr7:87458000-87460600	Weak transcription	Dnd41	blood
10	chr7:87458000-87460600	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr7:87458200-87460800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr7:87458200-87478400	Weak transcription	Adipose Nuclei	Adipose
13	chr7:87458400-87460600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr7:87458400-87460600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr7:87458400-87460800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr7:87458400-87460800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr7:87458400-87478600	Weak transcription	Brain Anterior Caudate	brain
18	chr7:87458600-87469400	Weak transcription	Primary hematopoietic stem cells	blood
19	chr7:87458600-87474400	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr7:87458600-87480400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr7:87458800-87467600	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr7:87459000-87460600	Weak transcription	HSMM	muscle
23	chr7:87459000-87460800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr7:87459000-87466400	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr7:87459000-87474200	Weak transcription	Primary B cells from cord blood	blood
26	chr7:87459000-87474400	Weak transcription	Duodenum Mucosa	Duodenum
27	chr7:87459200-87482400	Weak transcription	A549	lung
28	chr7:87459400-87464800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr7:87459400-87474200	Weak transcription	Fetal Stomach	stomach
30	chr7:87459400-87474400	Weak transcription	HUVEC	blood vessel
31	chr7:87459600-87471600	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr7:87459600-87473200	Weak transcription	Fetal Thymus	thymus
33	chr7:87459600-87474200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr7:87459600-87474600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr7:87459600-87474600	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr7:87459800-87464800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr7:87459800-87474800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr7:87459800-87478600	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr7:87459800-87480600	Weak transcription	Muscle Satellite Cultured Cells	--

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