Variant report

Variant	rs2522
Chromosome Location	chr10:44867304-44867305
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	chr10:44856118..44857833-chr10:44865837..44868542,2	K562	blood:
2	chr10:44864860..44867603-chr10:44877581..44881069,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000107562	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1029153	0.80[YRI][hapmap]
rs1065297	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10793537	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10900028	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10900030	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10900031	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11239016	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11239019	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11239020	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11239021	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11239032	0.94[ASN][1000 genomes]
rs12258838	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12357238	1.00[CEU][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17540465	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17878782	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17881412	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17881729	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17887234	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1804429	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1804430	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1889401	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1889402	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2105397	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2760669	1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2839696	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4948878	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59675227	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60357795	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][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	nsv1038511	chr10:44596885-44870030	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv1054649	chr10:44848921-44889713	Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:44838600-44867400	Weak transcription	Spleen	Spleen
2	chr10:44848400-44867400	Weak transcription	Adipose Nuclei	Adipose
3	chr10:44848400-44867600	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr10:44849400-44869000	Weak transcription	Right Ventricle	heart
5	chr10:44850600-44877600	Weak transcription	Duodenum Mucosa	Duodenum
6	chr10:44854400-44869000	Weak transcription	Brain Substantia Nigra	brain
7	chr10:44859000-44871800	Weak transcription	Psoas Muscle	Psoas
8	chr10:44860000-44879000	Weak transcription	Gastric	stomach
9	chr10:44860200-44868800	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr10:44861400-44869200	Weak transcription	Colonic Mucosa	Colon
11	chr10:44863000-44867400	Weak transcription	Pancreas	Pancrea
12	chr10:44863200-44869400	Strong transcription	Skeletal Muscle Male	skeletal muscle
13	chr10:44864600-44868000	Weak transcription	NHLF	lung
14	chr10:44864600-44871600	Strong transcription	Skeletal Muscle Female	skeletal muscle
15	chr10:44864600-44876200	Weak transcription	Brain Anterior Caudate	brain
16	chr10:44864600-44876800	Strong transcription	Fetal Stomach	stomach
17	chr10:44864800-44877800	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr10:44865000-44867400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr10:44865000-44873000	Weak transcription	Esophagus	oesophagus
20	chr10:44865200-44868600	Strong transcription	Fetal Muscle Trunk	muscle
21	chr10:44865400-44867400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr10:44865400-44867400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr10:44865400-44867400	Weak transcription	Aorta	Aorta
24	chr10:44865400-44867400	Weak transcription	Stomach Smooth Muscle	stomach
25	chr10:44865400-44867800	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr10:44865400-44876200	Weak transcription	Right Atrium	heart
27	chr10:44865600-44868000	Weak transcription	Fetal Kidney	kidney
28	chr10:44865600-44878000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr10:44865800-44872200	Strong transcription	Fetal Intestine Small	intestine
30	chr10:44866000-44876200	Strong transcription	Left Ventricle	heart
31	chr10:44866000-44877600	Weak transcription	Fetal Brain Female	brain
32	chr10:44866200-44867400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr10:44866200-44867400	Weak transcription	Ovary	ovary
34	chr10:44866200-44876000	Strong transcription	Osteobl	bone
35	chr10:44866400-44867400	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr10:44866400-44868200	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr10:44866400-44868400	Weak transcription	Fetal Intestine Large	intestine
38	chr10:44866400-44868600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr10:44866400-44870000	Strong transcription	Fetal Muscle Leg	muscle
40	chr10:44866400-44875600	Weak transcription	Fetal Brain Male	brain
41	chr10:44866400-44878600	Weak transcription	Liver	Liver
42	chr10:44866600-44867800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr10:44866600-44870600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr10:44866600-44876200	Weak transcription	Brain Germinal Matrix	brain
45	chr10:44866600-44877600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr10:44866800-44867400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr10:44866800-44867400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr10:44866800-44867800	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr10:44866800-44871800	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr10:44866800-44875600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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