Variant report

Variant	rs10467347
Chromosome Location	chr13:96360294-96360295
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:96328293..96330423-chr13:96358976..96360516,2	K562	blood:
2	chr13:96357533..96360111-chr13:96360254..96362838,2	K562	blood:
3	chr13:96356335..96359312-chr13:96360276..96362407,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000102580	Chromatin interaction
ENSG00000247400	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs17878797	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17879366	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17880519	0.93[ASW][hapmap];1.00[JPT][hapmap];0.88[MKK][hapmap];0.90[YRI][hapmap];0.85[AFR][1000 genomes]
rs4406928	0.92[CHB][hapmap];1.00[JPT][hapmap]
rs4550324	0.92[CHB][hapmap];1.00[JPT][hapmap]
rs56804437	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs61975190	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61975193	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7318647	0.97[ASN][1000 genomes]
rs7324577	1.00[ASW][hapmap];1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][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]
rs73554913	0.94[ASN][1000 genomes]
rs7983920	1.00[CEU][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7993991	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7994177	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9584318	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9584321	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9590319	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9590320	0.92[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs9590321	0.85[CHB][hapmap]
rs9590322	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9590323	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9590329	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832690	chr13:96330757-96508077	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:96331400-96362200	Weak transcription	HSMM	muscle
2	chr13:96332400-96360400	Weak transcription	NHDF-Ad	bronchial
3	chr13:96337600-96360800	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr13:96337600-96362200	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr13:96337600-96364200	Weak transcription	Ovary	ovary
6	chr13:96345200-96362200	Weak transcription	Duodenum Mucosa	Duodenum
7	chr13:96347000-96377600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr13:96348600-96360400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr13:96349200-96362200	Weak transcription	Fetal Intestine Large	intestine
10	chr13:96349600-96362200	Weak transcription	Dnd41	blood
11	chr13:96349800-96363000	Weak transcription	Fetal Lung	lung
12	chr13:96350800-96363800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr13:96350800-96365400	Weak transcription	HSMMtube	muscle
14	chr13:96351000-96362200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr13:96351000-96362400	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr13:96351000-96362600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr13:96351000-96362600	Weak transcription	Adipose Nuclei	Adipose
18	chr13:96351000-96363600	Weak transcription	Colonic Mucosa	Colon
19	chr13:96351000-96365800	Weak transcription	Brain Anterior Caudate	brain
20	chr13:96351000-96365800	Weak transcription	Fetal Brain Male	brain
21	chr13:96351000-96368600	Weak transcription	Lung	lung
22	chr13:96353600-96360400	Weak transcription	Colon Smooth Muscle	Colon
23	chr13:96354200-96364600	Weak transcription	Brain Angular Gyrus	brain
24	chr13:96355000-96362200	Weak transcription	Fetal Muscle Leg	muscle
25	chr13:96355000-96364800	Weak transcription	Esophagus	oesophagus
26	chr13:96355600-96364000	Weak transcription	HepG2	liver
27	chr13:96355800-96360600	Weak transcription	Liver	Liver
28	chr13:96355800-96362400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr13:96355800-96364000	Weak transcription	Stomach Smooth Muscle	stomach
30	chr13:96356000-96360600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr13:96356000-96365200	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr13:96356000-96372400	Weak transcription	Rectal Smooth Muscle	rectum
33	chr13:96356200-96363200	Weak transcription	HMEC	breast
34	chr13:96356400-96360600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr13:96356400-96362000	Weak transcription	Fetal Intestine Small	intestine
36	chr13:96356400-96363800	Weak transcription	Fetal Kidney	kidney
37	chr13:96356600-96362200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr13:96356600-96363000	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr13:96356600-96393600	Weak transcription	Right Ventricle	heart
40	chr13:96356800-96362200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr13:96356800-96366000	Weak transcription	Hela-S3	cervix
42	chr13:96357400-96360400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
43	chr13:96357600-96360400	Enhancers	Primary T helper cells fromperipheralblood	blood
44	chr13:96357800-96360400	Enhancers	Primary T cells fromperipheralblood	blood
45	chr13:96357800-96362200	Weak transcription	NHEK	skin
46	chr13:96357800-96362200	Weak transcription	Osteobl	bone
47	chr13:96358000-96360800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
48	chr13:96358000-96362200	Enhancers	Primary monocytes fromperipheralblood	blood
49	chr13:96358400-96361000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr13:96358400-96361200	Enhancers	Primary B cells from peripheral blood	blood

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