Variant report

Variant	rs7813388
Chromosome Location	chr8:8889064-8889065
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	chr8:8866297..8868833-chr8:8887524..8890339,2	K562	blood:
2	chr8:8887468..8889521-chr8:8895907..8897464,2	K562	blood:

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs1045529	0.88[JPT][hapmap];0.90[ASN][1000 genomes]
rs11782281	1.00[CEU][hapmap];0.94[CHB][hapmap];0.87[JPT][hapmap];0.81[YRI][hapmap];0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11784393	0.80[CHB][hapmap];0.83[ASN][1000 genomes]
rs12681075	0.84[CHB][hapmap]
rs13272451	0.82[ASN][1000 genomes]
rs1562211	0.84[CHB][hapmap];0.83[JPT][hapmap];0.84[ASN][1000 genomes]
rs17155071	0.89[CHB][hapmap]
rs2044387	0.80[CHB][hapmap];0.82[JPT][hapmap]
rs2044388	0.94[CHB][hapmap];0.88[EUR][1000 genomes]
rs2082210	0.90[CHB][hapmap];0.94[YRI][hapmap];0.82[AFR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2084076	0.89[CHB][hapmap];0.83[EUR][1000 genomes]
rs2288669	0.89[CHB][hapmap]
rs2288671	0.88[CHB][hapmap]
rs2288672	0.84[CHB][hapmap]
rs2409119	0.94[CHB][hapmap]
rs2915248	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2915251	0.94[CHB][hapmap]
rs2915252	0.94[CHB][hapmap];0.81[EUR][1000 genomes]
rs2915253	0.80[EUR][1000 genomes]
rs2921379	0.89[CHB][hapmap];0.83[EUR][1000 genomes]
rs2921383	0.84[ASN][1000 genomes]
rs2953800	1.00[CEU][hapmap];0.94[CHB][hapmap];0.80[EUR][1000 genomes]
rs2953803	1.00[CEU][hapmap]
rs2953808	1.00[CEU][hapmap];0.89[CHB][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2953809	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2956242	0.94[CHB][hapmap]
rs2956243	1.00[CHB][hapmap]
rs2956244	0.87[CHB][hapmap];0.87[ASN][1000 genomes]
rs2979246	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[YRI][hapmap];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2979258	0.84[AFR][1000 genomes]
rs2979260	0.94[CHB][hapmap];0.82[EUR][1000 genomes]
rs2979261	0.88[CHB][hapmap]
rs2979262	0.83[EUR][1000 genomes]
rs2979263	0.94[CHB][hapmap];0.82[EUR][1000 genomes]
rs2979264	0.82[EUR][1000 genomes]
rs2979265	0.88[CHB][hapmap]
rs2979266	0.94[CHB][hapmap];0.80[EUR][1000 genomes]
rs4081881	0.94[CHB][hapmap]
rs4537305	0.81[ASN][1000 genomes]
rs4841083	0.84[CHB][hapmap]
rs4841084	0.84[ASN][1000 genomes]
rs4841085	0.94[CHB][hapmap];0.81[JPT][hapmap];0.81[YRI][hapmap];0.81[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs6422353	1.00[CEU][hapmap];0.94[CHB][hapmap]
rs6987558	0.83[CHB][hapmap]
rs7005133	0.89[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs7016139	0.84[ASN][1000 genomes]
rs7824140	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7839585	0.94[CHB][hapmap]
rs7853	0.95[ASN][1000 genomes]
rs987537	0.89[CHB][hapmap]
rs987538	0.94[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890331	chr8:8093240-8971100	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv917117	chr8:8621658-9313799	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv831229	chr8:8751523-8926235	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv610205	chr8:8799111-8891644	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	n/a
5	nsv1022468	chr8:8857853-9209167	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
6	nsv539460	chr8:8857853-9209167	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
7	nsv817373	chr8:8857854-9361049	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8861200-8892400	Weak transcription	Aorta	Aorta
2	chr8:8861400-8907000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr8:8861800-8890000	Weak transcription	Stomach Smooth Muscle	stomach
4	chr8:8861800-8891400	Weak transcription	Brain Angular Gyrus	brain
5	chr8:8861800-8891800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr8:8861800-8892000	Weak transcription	Brain Anterior Caudate	brain
7	chr8:8861800-8892200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr8:8861800-8892200	Weak transcription	Ovary	ovary
9	chr8:8861800-8893800	Weak transcription	Fetal Brain Male	brain
10	chr8:8861800-8897800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr8:8861800-8915600	Weak transcription	Pancreas	Pancrea
12	chr8:8870600-8892200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr8:8871200-8900000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr8:8871400-8892800	Weak transcription	HSMMtube	muscle
15	chr8:8871800-8894400	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr8:8872000-8891200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr8:8875000-8891200	Weak transcription	Fetal Intestine Small	intestine
18	chr8:8875200-8897200	Weak transcription	Gastric	stomach
19	chr8:8875400-8890200	Weak transcription	Fetal Stomach	stomach
20	chr8:8875400-8892600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr8:8875400-8894400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr8:8875400-8897000	Weak transcription	Lung	lung
23	chr8:8875400-8901200	Weak transcription	Thymus	Thymus
24	chr8:8875600-8890000	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr8:8875600-8890200	Weak transcription	HSMM	muscle
26	chr8:8875800-8892200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr8:8876400-8890000	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr8:8876400-8898000	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr8:8876800-8890000	Weak transcription	Fetal Muscle Trunk	muscle
30	chr8:8876800-8891400	Weak transcription	Fetal Brain Female	brain
31	chr8:8877000-8894600	Weak transcription	HMEC	breast
32	chr8:8877000-8895600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr8:8877000-8903400	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr8:8877200-8895400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr8:8878600-8890200	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr8:8878800-8890200	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr8:8879000-8890000	Weak transcription	Primary T helper cells fromperipheralblood	blood
38	chr8:8879200-8892600	Weak transcription	Osteobl	bone
39	chr8:8879400-8894200	Weak transcription	HepG2	liver
40	chr8:8880000-8890000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr8:8880600-8890200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr8:8881000-8900400	Weak transcription	NH-A	brain
43	chr8:8881200-8892000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr8:8881600-8891400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr8:8882200-8896400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr8:8882600-8894600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr8:8882600-8894600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr8:8883000-8890000	Weak transcription	Fetal Muscle Leg	muscle
49	chr8:8883000-8893200	Weak transcription	Primary B cells from peripheral blood	blood
50	chr8:8883200-8898400	Weak transcription	Fetal Kidney	kidney

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