Variant report

Variant	rs13251536
Chromosome Location	chr8:59759418-59759419
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:
2	chr8:59753701..59756269-chr8:59757375..59760219,3	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10090233	0.97[EUR][1000 genomes]
rs10099884	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10103680	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12542489	0.80[YRI][hapmap]
rs13262120	0.90[CEU][hapmap];1.00[GIH][hapmap];0.83[TSI][hapmap]
rs1349115	0.81[YRI][hapmap]
rs16924032	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs16924069	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16924102	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16924122	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs34855090	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35553018	0.81[EUR][1000 genomes]
rs3779998	0.90[CEU][hapmap]
rs3780000	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][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]
rs6471754	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72649459	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7813495	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs7817609	0.81[CEU][hapmap]
rs7821556	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][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	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

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs13251536	IMPAD1	cis	cerebellum	SCAN
rs13251536	CHCHD7	cis	cerebellum	SCAN
rs13251536	LYN	cis	cerebellum	SCAN

Chromatin state (count:55 , 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	chr8:59747400-59760400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr8:59747400-59770800	Weak transcription	Pancreas	Pancrea
10	chr8:59749200-59762600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr8:59750800-59760000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr8:59750800-59761800	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr8:59750800-59762600	Weak transcription	Duodenum Mucosa	Duodenum
14	chr8:59750800-59771000	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr8:59751000-59761600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr8:59751000-59763400	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr8:59753600-59762600	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr8:59754000-59762600	Weak transcription	Thymus	Thymus
19	chr8:59755000-59762600	Weak transcription	NHLF	lung
20	chr8:59755400-59759800	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr8:59755400-59762600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr8:59755400-59762800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr8:59755400-59762800	Weak transcription	Gastric	stomach
24	chr8:59755600-59759800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr8:59755600-59762400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr8:59755600-59770400	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr8:59755800-59759600	Enhancers	Fetal Lung	lung
28	chr8:59755800-59772200	Weak transcription	Small Intestine	intestine
29	chr8:59756400-59762400	Weak transcription	Primary T cells from cord blood	blood
30	chr8:59756800-59762800	Weak transcription	Fetal Stomach	stomach
31	chr8:59757800-59759600	Enhancers	Rectal Smooth Muscle	rectum
32	chr8:59757800-59762600	Weak transcription	Fetal Intestine Large	intestine
33	chr8:59757800-59762600	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr8:59758200-59762400	Weak transcription	Stomach Smooth Muscle	stomach
35	chr8:59758400-59760200	Strong transcription	Dnd41	blood
36	chr8:59758400-59761800	Weak transcription	NHEK	skin
37	chr8:59758400-59768600	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr8:59758400-59777400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr8:59758600-59760200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr8:59758600-59761800	Weak transcription	HUVEC	blood vessel
41	chr8:59758600-59762400	Weak transcription	NH-A	brain
42	chr8:59758600-59762800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr8:59758800-59759800	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr8:59759000-59759600	Strong transcription	Primary hematopoietic stem cells	blood
45	chr8:59759000-59760000	Weak transcription	Primary B cells from cord blood	blood
46	chr8:59759000-59761000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr8:59759000-59762600	Weak transcription	Esophagus	oesophagus
48	chr8:59759200-59759600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
49	chr8:59759200-59759600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr8:59759200-59759600	ZNF genes & repeats	HSMM	muscle

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