Variant report

Variant	rs12219483
Chromosome Location	chr10:97310703-97310704
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:97309672..97311515-chr10:97317695..97319479,2	MCF-7	breast:
2	chr10:97308793..97313420-chr10:97319109..97323255,4	K562	blood:
3	chr10:97299249..97301273-chr10:97310241..97312398,2	K562	blood:

Variant related genes	Relation type
ENSG00000095637	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10786218	0.82[CEU][hapmap];0.82[TSI][hapmap];0.85[EUR][1000 genomes]
rs10786221	0.92[ASN][1000 genomes]
rs10882614	0.89[JPT][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]
rs10882615	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][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]
rs10882616	0.93[CEU][hapmap];1.00[CHB][hapmap];0.94[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10882617	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10882618	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11188355	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11188357	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11188359	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12411861	0.84[ASW][hapmap];1.00[CEU][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.95[TSI][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12416299	0.82[CEU][hapmap];0.85[EUR][1000 genomes]
rs1536445	0.91[ASN][1000 genomes]
rs17458865	1.00[CEU][hapmap];0.81[TSI][hapmap];0.94[EUR][1000 genomes]
rs17537576	1.00[CEU][hapmap];0.95[TSI][hapmap];0.98[EUR][1000 genomes]
rs55873943	0.94[EUR][1000 genomes]
rs56353860	1.00[EUR][1000 genomes]
rs61869973	0.85[EUR][1000 genomes]
rs61869974	0.85[EUR][1000 genomes]
rs61869975	0.84[EUR][1000 genomes]
rs61869976	0.86[EUR][1000 genomes]
rs61870045	0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs61870046	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61870048	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61870049	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61870050	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61870051	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61870052	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7069574	0.85[CHB][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.92[ASN][1000 genomes]
rs7085647	0.82[CEU][hapmap];0.85[EUR][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	esv1808679	chr10:97266478-97316855	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv552022	chr10:97308114-97328227	Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:97296400-97311400	Enhancers	Skeletal Muscle Male	skeletal muscle
2	chr10:97296800-97312600	Weak transcription	Placenta	Placenta
3	chr10:97301000-97315200	Enhancers	HepG2	liver
4	chr10:97301800-97311000	Weak transcription	Colonic Mucosa	Colon
5	chr10:97304200-97310800	Enhancers	Rectal Smooth Muscle	rectum
6	chr10:97304600-97312400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr10:97305000-97311200	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr10:97305000-97311400	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr10:97305200-97318600	Weak transcription	Fetal Muscle Trunk	muscle
10	chr10:97305200-97319000	Weak transcription	HSMM	muscle
11	chr10:97306600-97311600	Enhancers	Fetal Heart	heart
12	chr10:97306600-97312200	Weak transcription	Fetal Intestine Small	intestine
13	chr10:97306800-97311400	Enhancers	Right Ventricle	heart
14	chr10:97306800-97313000	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr10:97307400-97310800	Weak transcription	Esophagus	oesophagus
16	chr10:97307800-97310800	Weak transcription	Fetal Intestine Large	intestine
17	chr10:97308000-97311000	Enhancers	Fetal Stomach	stomach
18	chr10:97308000-97318600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr10:97308600-97311400	Enhancers	Brain Hippocampus Middle	brain
20	chr10:97308600-97311600	Enhancers	Liver	Liver
21	chr10:97309000-97311400	Enhancers	Fetal Muscle Leg	muscle
22	chr10:97309400-97311400	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr10:97309400-97311400	Enhancers	Brain Angular Gyrus	brain
24	chr10:97309400-97311400	Enhancers	Left Ventricle	heart
25	chr10:97309400-97311400	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr10:97309400-97311600	Enhancers	Brain Substantia Nigra	brain
27	chr10:97309400-97312600	Enhancers	Right Atrium	heart
28	chr10:97309400-97313000	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr10:97309600-97310800	Enhancers	Fetal Lung	lung
30	chr10:97309600-97310800	Enhancers	Pancreas	Pancrea
31	chr10:97309600-97311000	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
32	chr10:97309600-97311400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr10:97309600-97311400	Enhancers	Brain Anterior Caudate	brain
34	chr10:97309600-97311400	Enhancers	Rectal Mucosa Donor 29	rectum
35	chr10:97309600-97311400	Enhancers	K562	blood
36	chr10:97309600-97311800	Enhancers	Stomach Mucosa	stomach
37	chr10:97309600-97312000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr10:97309600-97312600	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr10:97309600-97312800	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr10:97309600-97313000	Enhancers	H1 Cell Line	embryonic stem cell
41	chr10:97309600-97313000	Enhancers	Psoas Muscle	Psoas
42	chr10:97309600-97313800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
43	chr10:97309800-97310800	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr10:97309800-97311000	Enhancers	Gastric	stomach
45	chr10:97309800-97311200	Enhancers	Brain Cingulate Gyrus	brain
46	chr10:97309800-97311400	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr10:97309800-97311600	Enhancers	Duodenum Smooth Muscle	Duodenum
48	chr10:97310000-97310800	Enhancers	Lung	lung
49	chr10:97310000-97310800	Enhancers	Ovary	ovary
50	chr10:97310000-97311000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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