Variant report

Variant	rs1751008
Chromosome Location	chr13:95837662-95837663
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1617844	0.81[CEU][hapmap];1.00[CHB][hapmap]
rs1678377	0.81[AMR][1000 genomes]
rs17300865	0.81[CHB][hapmap];0.85[CHD][hapmap]
rs1751003	0.85[CHB][hapmap];0.85[CHD][hapmap];0.93[JPT][hapmap];0.88[MEX][hapmap]
rs1751014	0.81[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];0.84[AMR][1000 genomes]
rs1751029	1.00[CHB][hapmap]
rs2148529	0.81[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.93[JPT][hapmap];0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2766474	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[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];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2766476	0.81[CEU][hapmap]
rs7333281	0.81[CEU][hapmap]
rs7333637	1.00[ASW][hapmap]
rs943288	0.81[CEU][hapmap]

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	nsv533659	chr13:95757713-96042149	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv832689	chr13:95759073-95921308	Genic enhancers ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:95752200-95844200	Weak transcription	Rectal Smooth Muscle	rectum
2	chr13:95807000-95846000	Weak transcription	Brain Substantia Nigra	brain
3	chr13:95807000-95857800	Weak transcription	Esophagus	oesophagus
4	chr13:95807200-95844400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr13:95807200-95865600	Weak transcription	Colonic Mucosa	Colon
6	chr13:95807400-95837800	Weak transcription	Primary B cells from peripheral blood	blood
7	chr13:95808200-95841800	Weak transcription	Osteobl	bone
8	chr13:95808400-95854600	Weak transcription	NHEK	skin
9	chr13:95813200-95858000	Weak transcription	Aorta	Aorta
10	chr13:95815000-95844200	Weak transcription	Fetal Muscle Leg	muscle
11	chr13:95815200-95847800	Weak transcription	Hela-S3	cervix
12	chr13:95818200-95841800	Weak transcription	NHDF-Ad	bronchial
13	chr13:95823600-95844400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr13:95824600-95840000	Weak transcription	Fetal Lung	lung
15	chr13:95825400-95841400	Weak transcription	HUVEC	blood vessel
16	chr13:95827200-95838000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr13:95827400-95872400	Weak transcription	NH-A	brain
18	chr13:95828000-95840400	Weak transcription	Liver	Liver
19	chr13:95828600-95844200	Weak transcription	HSMM	muscle
20	chr13:95829400-95840400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr13:95829400-95856000	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr13:95830200-95840000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr13:95830200-95841600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr13:95830400-95841400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr13:95830400-95845400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr13:95830400-95845600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr13:95830400-95857800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr13:95830400-95857800	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr13:95831600-95844200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr13:95831600-95845200	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr13:95831600-95845600	Weak transcription	Fetal Intestine Large	intestine
32	chr13:95832000-95838400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr13:95833000-95845600	Weak transcription	Brain Hippocampus Middle	brain
34	chr13:95833400-95837800	Enhancers	Primary T helper cells PMA-I stimulated	--
35	chr13:95833400-95838400	Enhancers	Primary T killer memory cells from peripheral blood	blood
36	chr13:95833600-95840200	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr13:95833600-95856800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr13:95833800-95839200	Enhancers	Primary T helper cells fromperipheralblood	blood
39	chr13:95833800-95839600	Weak transcription	Right Ventricle	heart
40	chr13:95833800-95844000	Weak transcription	Stomach Smooth Muscle	stomach
41	chr13:95833800-95846000	Weak transcription	Duodenum Mucosa	Duodenum
42	chr13:95833800-95855400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr13:95833800-95856600	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr13:95833800-95859800	Weak transcription	Colon Smooth Muscle	Colon
45	chr13:95834000-95844200	Weak transcription	Ovary	ovary
46	chr13:95834000-95846000	Weak transcription	Gastric	stomach
47	chr13:95834000-95865400	Weak transcription	Psoas Muscle	Psoas
48	chr13:95834200-95837800	Weak transcription	Stomach Mucosa	stomach
49	chr13:95834200-95845400	Weak transcription	HepG2	liver
50	chr13:95834400-95844200	Weak transcription	Lung	lung

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