Variant report

Variant	rs1349115
Chromosome Location	chr8:59761734-59761735
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	chr8:59757012..59762726-chr8:59763817..59766643,5	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10504263	0.82[CHB][hapmap];0.82[CHD][hapmap];0.82[JPT][hapmap]
rs10504265	0.82[CHB][hapmap];0.82[CHD][hapmap];0.82[JPT][hapmap]
rs10504266	0.98[EUR][1000 genomes]
rs10504267	0.81[CEU][hapmap]
rs1075418	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs12542489	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.81[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13251536	0.81[YRI][hapmap]
rs13260651	0.96[CEU][hapmap];0.98[TSI][hapmap];0.90[EUR][1000 genomes]
rs13281543	0.95[CEU][hapmap];0.89[EUR][1000 genomes]
rs1375185	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs1375186	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs1375187	0.96[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1375188	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1448546	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs16924069	0.90[YRI][hapmap]
rs17214703	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs17292859	0.82[CHD][hapmap]
rs17293660	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs2875868	0.83[CEU][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34404259	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs3780000	0.81[YRI][hapmap]
rs4737522	0.82[CHB][hapmap];0.82[JPT][hapmap];0.80[MEX][hapmap]
rs4737524	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4738721	0.96[CEU][hapmap];0.98[TSI][hapmap];0.90[EUR][1000 genomes]
rs4738722	0.96[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4738723	0.81[CEU][hapmap];0.91[TSI][hapmap]
rs4738724	0.96[CEU][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4738725	0.81[CEU][hapmap]
rs60665035	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7017464	0.96[CEU][hapmap];0.93[TSI][hapmap];0.88[EUR][1000 genomes]
rs7464175	0.82[CHB][hapmap];0.82[CHD][hapmap];0.82[JPT][hapmap]
rs7813495	0.81[YRI][hapmap]
rs7819721	0.96[CEU][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7820629	0.81[CEU][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7826573	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7838499	0.81[CEU][hapmap];0.90[MEX][hapmap];0.95[TSI][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7844725	0.95[CEU][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs960561	0.82[CHD][hapmap]

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	nsv890938	chr8:59355053-59809785	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats 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	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:59720800-59762600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr8:59730800-59770800	Strong transcription	Fetal Thymus	thymus
3	chr8:59745600-59770800	Weak transcription	Fetal Kidney	kidney
4	chr8:59745800-59770800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr8:59746400-59773200	Weak transcription	Fetal Intestine Small	intestine
6	chr8:59746600-59763600	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr8:59746800-59763600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr8:59747400-59770800	Weak transcription	Pancreas	Pancrea
9	chr8:59749200-59762600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr8:59750800-59761800	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr8:59750800-59762600	Weak transcription	Duodenum Mucosa	Duodenum
12	chr8:59750800-59771000	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr8:59751000-59763400	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr8:59753600-59762600	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr8:59754000-59762600	Weak transcription	Thymus	Thymus
16	chr8:59755000-59762600	Weak transcription	NHLF	lung
17	chr8:59755400-59762600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr8:59755400-59762800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr8:59755400-59762800	Weak transcription	Gastric	stomach
20	chr8:59755600-59762400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr8:59755600-59770400	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr8:59755800-59772200	Weak transcription	Small Intestine	intestine
23	chr8:59756400-59762400	Weak transcription	Primary T cells from cord blood	blood
24	chr8:59756800-59762800	Weak transcription	Fetal Stomach	stomach
25	chr8:59757800-59762600	Weak transcription	Fetal Intestine Large	intestine
26	chr8:59757800-59762600	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr8:59758200-59762400	Weak transcription	Stomach Smooth Muscle	stomach
28	chr8:59758400-59761800	Weak transcription	NHEK	skin
29	chr8:59758400-59768600	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr8:59758400-59777400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr8:59758600-59761800	Weak transcription	HUVEC	blood vessel
32	chr8:59758600-59762400	Weak transcription	NH-A	brain
33	chr8:59758600-59762800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr8:59759000-59762600	Weak transcription	Esophagus	oesophagus
35	chr8:59759400-59762400	Weak transcription	Osteobl	bone
36	chr8:59759400-59762600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr8:59759600-59762400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr8:59759600-59762800	Weak transcription	Fetal Lung	lung
39	chr8:59759600-59770200	Weak transcription	Rectal Smooth Muscle	rectum
40	chr8:59760000-59762600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr8:59760200-59762400	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr8:59760400-59762200	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr8:59760400-59764400	Strong transcription	Cortex derived primary cultured neurospheres	brain
44	chr8:59760400-59770800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr8:59760600-59762800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr8:59760600-59764200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr8:59760800-59762400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr8:59760800-59764400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr8:59761000-59762800	Strong transcription	HUES64 Cell Line	embryonic stem cell
50	chr8:59761000-59777200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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