Variant report

Variant	rs385022
Chromosome Location	chr8:130909746-130909747
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:130908195..130912113-chr8:130924701..130928264,3	K562	blood:
2	chr8:130909290..130910853-chr8:130915408..130917947,2	K562	blood:
3	chr8:130908607..130911071-chr8:131026510..131028615,2	MCF-7	breast:

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10956502	1.00[YRI][hapmap];0.85[ASN][1000 genomes]
rs11984804	0.87[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs167238	1.00[CEU][hapmap];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs167239	0.92[ASN][1000 genomes]
rs16904166	1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs1979477	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2046260	0.96[CEU][hapmap];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2054632	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2086641	0.87[AFR][1000 genomes]
rs212992	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2306528	0.83[ASN][1000 genomes]
rs2449415	0.93[CEU][hapmap]
rs2449417	0.96[CEU][hapmap];0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2663613	0.96[CEU][hapmap];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2663618	0.92[CEU][hapmap];0.93[ASN][1000 genomes]
rs2663619	0.80[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs298601	1.00[CEU][hapmap]
rs298602	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs298604	1.00[CEU][hapmap];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs298605	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs298606	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs298607	0.93[CEU][hapmap];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs298609	0.92[CEU][hapmap];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs298610	0.93[CEU][hapmap];0.95[ASN][1000 genomes]
rs298611	0.92[CEU][hapmap];0.95[ASN][1000 genomes]
rs298612	1.00[CEU][hapmap];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs298613	0.96[CEU][hapmap];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs298614	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs298615	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs298616	1.00[CEU][hapmap];0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs298617	0.98[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs298618	0.92[CEU][hapmap];0.95[ASN][1000 genomes]
rs298619	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs298620	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2989885	0.96[CEU][hapmap];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34983967	0.80[ASN][1000 genomes]
rs367117	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs383209	0.92[CEU][hapmap];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs384752	0.92[CEU][hapmap];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs389604	0.96[CEU][hapmap];0.89[ASN][1000 genomes]
rs401526	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs412941	0.92[CEU][hapmap];0.89[ASN][1000 genomes]
rs423915	0.90[ASN][1000 genomes]
rs438877	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4395866	0.87[ASN][1000 genomes]
rs476849	0.89[ASN][1000 genomes]
rs59839253	0.87[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs710616	0.92[CEU][hapmap];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs710617	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs837065	0.85[CEU][hapmap];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs837075	0.92[ASN][1000 genomes]
rs837076	0.85[AMR][1000 genomes]
rs837079	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs837080	1.00[CEU][hapmap];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs837081	0.96[CEU][hapmap];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs857233	0.93[CEU][hapmap];0.98[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018045	chr8:130863644-131122644	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv612231	chr8:130868212-131132592	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv524349	chr8:130868363-131132592	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv1021229	chr8:130887132-131057897	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
5	nsv1017292	chr8:130887132-131107258	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130885200-130912200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr8:130888800-130910600	Weak transcription	Aorta	Aorta
3	chr8:130898600-130926200	Weak transcription	Brain Hippocampus Middle	brain
4	chr8:130899000-130912000	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr8:130899400-130925600	Weak transcription	Stomach Smooth Muscle	stomach
6	chr8:130899800-130913400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr8:130899800-130915800	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr8:130900000-130910600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr8:130900000-130911800	Weak transcription	Dnd41	blood
10	chr8:130900000-130914800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr8:130900000-130922000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr8:130900000-130925200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr8:130900000-130926200	Weak transcription	Brain Angular Gyrus	brain
14	chr8:130900400-130910400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr8:130900600-130912200	Weak transcription	Thymus	Thymus
16	chr8:130900600-130922000	Weak transcription	Esophagus	oesophagus
17	chr8:130900600-130935000	Weak transcription	Fetal Intestine Small	intestine
18	chr8:130900800-130910800	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr8:130900800-130922000	Weak transcription	Gastric	stomach
20	chr8:130901000-130912000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr8:130901000-130922000	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr8:130901000-130922200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr8:130901000-130922800	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr8:130901000-130924600	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr8:130901000-130924600	Weak transcription	K562	blood
26	chr8:130901000-130929200	Weak transcription	Duodenum Mucosa	Duodenum
27	chr8:130901000-130935200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr8:130901200-130912000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr8:130901600-130912600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr8:130901800-130912000	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chr8:130902000-130912000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr8:130902600-130921800	Weak transcription	Adipose Nuclei	Adipose
33	chr8:130903200-130916800	Weak transcription	Fetal Intestine Large	intestine
34	chr8:130903400-130911200	Weak transcription	Left Ventricle	heart
35	chr8:130903800-130922000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr8:130904000-130930200	Weak transcription	Hela-S3	cervix
37	chr8:130904000-130950600	Weak transcription	HSMM	muscle
38	chr8:130904400-130911800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr8:130904400-130928600	Weak transcription	Brain Anterior Caudate	brain
40	chr8:130904600-130911800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr8:130904600-130911800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr8:130904600-130922000	Weak transcription	HMEC	breast
43	chr8:130904800-130912000	Weak transcription	Primary T cells from cord blood	blood
44	chr8:130904800-130912000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr8:130905200-130950000	Weak transcription	Primary hematopoietic stem cells	blood
46	chr8:130906800-130912600	Weak transcription	GM12878-XiMat	blood
47	chr8:130907000-130910200	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr8:130907000-130912000	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr8:130907000-130912200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr8:130907000-130912400	Weak transcription	Brain Cingulate Gyrus	brain

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