Variant report

Variant	rs1751014
Chromosome Location	chr13:95845605-95845606
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:95845563..95847405-chr13:95944839..95947304,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11620067	0.84[EUR][1000 genomes]
rs12430658	0.81[CEU][hapmap]
rs1617844	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1678377	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17300865	0.81[CHB][hapmap];0.88[JPT][hapmap]
rs1751003	0.85[CHB][hapmap]
rs1751008	0.81[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];0.84[AMR][1000 genomes]
rs1751029	0.89[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2148529	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2766474	0.81[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];0.85[GIH][hapmap];0.84[AMR][1000 genomes]
rs2766476	1.00[CEU][hapmap]
rs4773844	0.85[GIH][hapmap]
rs7333281	1.00[CEU][hapmap]
rs899494	0.86[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap];0.85[ASN][1000 genomes]
rs943288	1.00[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:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:95807000-95846000	Weak transcription	Brain Substantia Nigra	brain
2	chr13:95807000-95857800	Weak transcription	Esophagus	oesophagus
3	chr13:95807200-95865600	Weak transcription	Colonic Mucosa	Colon
4	chr13:95808400-95854600	Weak transcription	NHEK	skin
5	chr13:95813200-95858000	Weak transcription	Aorta	Aorta
6	chr13:95815200-95847800	Weak transcription	Hela-S3	cervix
7	chr13:95827400-95872400	Weak transcription	NH-A	brain
8	chr13:95829400-95856000	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr13:95830400-95857800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr13:95830400-95857800	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr13:95833600-95856800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr13:95833800-95846000	Weak transcription	Duodenum Mucosa	Duodenum
13	chr13:95833800-95855400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr13:95833800-95856600	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr13:95833800-95859800	Weak transcription	Colon Smooth Muscle	Colon
16	chr13:95834000-95846000	Weak transcription	Gastric	stomach
17	chr13:95834000-95865400	Weak transcription	Psoas Muscle	Psoas
18	chr13:95834400-95845800	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr13:95834400-95849200	Weak transcription	K562	blood
20	chr13:95838200-95867400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr13:95839200-95857000	Weak transcription	Primary hematopoietic stem cells	blood
22	chr13:95839400-95857200	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr13:95839400-95857800	Weak transcription	Primary T cells from cord blood	blood
24	chr13:95839400-95863800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr13:95839600-95847000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr13:95839600-95856800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr13:95839600-95857800	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr13:95840400-95874400	Weak transcription	Pancreas	Pancrea
29	chr13:95841800-95846200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr13:95841800-95854200	Weak transcription	HUVEC	blood vessel
31	chr13:95842000-95845800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr13:95842000-95846200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr13:95842000-95855600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr13:95842000-95856000	Weak transcription	Primary T helper cells fromperipheralblood	blood
35	chr13:95842000-95857800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr13:95842000-95864800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr13:95842000-95869000	Weak transcription	Fetal Kidney	kidney
38	chr13:95842200-95898200	Weak transcription	NHDF-Ad	bronchial
39	chr13:95844000-95848200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr13:95844400-95847800	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr13:95844400-95848000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr13:95844400-95864400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr13:95844400-95865600	Weak transcription	Spleen	Spleen
44	chr13:95844400-95867600	Weak transcription	Rectal Smooth Muscle	rectum
45	chr13:95844600-95845800	Weak transcription	Brain Anterior Caudate	brain
46	chr13:95844600-95845800	Weak transcription	Fetal Muscle Leg	muscle
47	chr13:95844600-95845800	Weak transcription	Lung	lung
48	chr13:95844600-95846000	Strong transcription	NHLF	lung
49	chr13:95844600-95846600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr13:95844600-95858400	Weak transcription	HSMM	muscle

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