Variant report

Variant	rs3614
Chromosome Location	chr8:48648690-48648691
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:26)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:26 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:48417772..48429044-chr8:48646094..48652486,42	MCF-7	breast:
2	chr8:48416787..48427648-chr8:48644938..48653304,27	MCF-7	breast:
3	chr8:48433892..48441630-chr8:48644198..48652247,18	MCF-7	breast:
4	chr8:48435225..48441849-chr8:48646333..48652657,17	MCF-7	breast:
5	chr8:48571104..48575817-chr8:48648052..48653139,6	K562	blood:
6	chr8:48604118..48606362-chr8:48646614..48648763,2	MCF-7	breast:
7	chr8:48573288..48575298-chr8:48647992..48650663,2	MCF-7	breast:
8	chr8:48077834..48080111-chr8:48648682..48651633,2	MCF-7	breast:
9	chr8:48516477..48519191-chr8:48648055..48649779,2	MCF-7	breast:
10	chr8:48185030..48187029-chr8:48646598..48649243,2	K562	blood:
11	chr8:48589240..48591500-chr8:48645900..48648836,2	MCF-7	breast:
12	chr8:48635174..48641893-chr8:48648550..48652485,8	MCF-7	breast:
13	chr8:48648550..48651085-chr8:48656701..48659143,2	K562	blood:
14	chr8:48171500..48174751-chr8:48648690..48652421,4	K562	blood:
15	chr8:48559530..48561165-chr8:48648021..48650410,3	K562	blood:
16	chr8:48616670..48620929-chr8:48647842..48650845,3	MCF-7	breast:
17	chr8:48627320..48629961-chr8:48647561..48650281,2	MCF-7	breast:
18	chr8:48516911..48521430-chr8:48646759..48650653,4	K562	blood:
19	chr8:48353630..48357760-chr8:48647568..48650478,4	MCF-7	breast:
20	chr8:48300186..48303081-chr8:48648494..48650857,2	MCF-7	breast:
21	chr8:48222564..48225151-chr8:48648619..48650407,2	MCF-7	breast:
22	chr8:48432437..48435065-chr8:48648132..48650719,4	MCF-7	breast:
23	chr8:48521758..48524505-chr8:48647961..48649849,2	MCF-7	breast:
24	chr8:48409859..48412795-chr8:48648152..48651126,2	MCF-7	breast:
25	chr8:48518004..48520090-chr8:48648537..48650198,2	K562	blood:
26	chr8:48170516..48173662-chr8:48648596..48652534,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000253330	Chromatin interaction
ENSG00000164808	Chromatin interaction
ENSG00000269924	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10088698	0.92[JPT][hapmap];0.83[TSI][hapmap];0.90[AMR][1000 genomes]
rs10092880	1.00[CEU][hapmap];0.83[CHB][hapmap];0.83[JPT][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10095193	0.90[EUR][1000 genomes]
rs10097783	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap]
rs10106778	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap]
rs10107723	1.00[CEU][hapmap]
rs10109158	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10958274	1.00[CEU][hapmap];0.83[CHB][hapmap];0.89[CHD][hapmap];0.94[GIH][hapmap];0.83[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12334811	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap]
rs1487438	1.00[CEU][hapmap];0.83[CHB][hapmap];0.89[CHD][hapmap];0.83[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28542855	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs28795698	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28809491	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4521758	0.80[ASN][1000 genomes]
rs4873770	1.00[CEU][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap]
rs6995756	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7016660	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7017622	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72646383	0.83[EUR][1000 genomes]
rs72646396	0.80[EUR][1000 genomes]
rs72646401	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs729228	1.00[CEU][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.83[EUR][1000 genomes]
rs7812323	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7813617	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7818445	0.82[AFR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7822320	0.83[EUR][1000 genomes]
rs7828380	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7830350	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7830633	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7830743	0.83[EUR][1000 genomes]
rs7831196	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7832898	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7838910	0.82[ASW][hapmap];1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.95[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7839161	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7839407	0.80[ASN][1000 genomes]
rs7841661	1.00[CEU][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs8178095	1.00[CEU][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap]
rs8178238	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs8178255	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8178258	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9918758	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1803608	chr8:48506628-48874811	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv1026287	chr8:48615720-48710849	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv890849	chr8:48644337-48671294	Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48618000-48648800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr8:48618200-48651200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr8:48619200-48649000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr8:48637800-48649600	Weak transcription	Dnd41	blood
5	chr8:48639600-48651000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr8:48641800-48649000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr8:48641800-48649200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr8:48646200-48649400	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
9	chr8:48646800-48648800	Flanking Active TSS	Rectal Smooth Muscle	rectum
10	chr8:48646800-48650200	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr8:48647000-48650000	Transcr. at gene 5' and 3'	Fetal Lung	lung
12	chr8:48647200-48648800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr8:48647200-48650400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr8:48647200-48651600	Active TSS	Aorta	Aorta
15	chr8:48647200-48651600	Active TSS	Brain Substantia Nigra	brain
16	chr8:48647200-48651800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
17	chr8:48647200-48652000	Active TSS	Liver	Liver
18	chr8:48647400-48648800	Flanking Active TSS	Fetal Heart	heart
19	chr8:48647400-48649000	Flanking Active TSS	HUVEC	blood vessel
20	chr8:48647400-48651600	Active TSS	Pancreas	Pancrea
21	chr8:48647400-48651800	Active TSS	Esophagus	oesophagus
22	chr8:48647400-48651800	Active TSS	Pancreatic Islets	Pancreatic Islet
23	chr8:48647400-48651800	Active TSS	Left Ventricle	heart
24	chr8:48647400-48651800	Active TSS	Lung	lung
25	chr8:48647400-48651800	Active TSS	Ovary	ovary
26	chr8:48647400-48652000	Active TSS	Psoas Muscle	Psoas
27	chr8:48647400-48652000	Active TSS	Right Ventricle	heart
28	chr8:48647600-48648800	Flanking Active TSS	NH-A	brain
29	chr8:48647600-48649000	Weak transcription	Primary B cells from peripheral blood	blood
30	chr8:48647600-48649400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr8:48647600-48650000	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr8:48647600-48651800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr8:48647600-48651800	Active TSS	Fetal Intestine Small	intestine
34	chr8:48647600-48651800	Active TSS	Right Atrium	heart
35	chr8:48647800-48648800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
36	chr8:48647800-48649000	Active TSS	Primary T cells fromperipheralblood	blood
37	chr8:48647800-48649200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr8:48647800-48649200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr8:48647800-48649200	Bivalent/Poised TSS	Fetal Brain Male	brain
40	chr8:48647800-48651400	Active TSS	Brain Angular Gyrus	brain
41	chr8:48647800-48651600	Active TSS	Fetal Intestine Large	intestine
42	chr8:48647800-48651600	Active TSS	Gastric	stomach
43	chr8:48647800-48651600	Active TSS	Placenta Amnion	Placenta Amnion
44	chr8:48647800-48651600	Active TSS	Rectal Mucosa Donor 29	rectum
45	chr8:48647800-48651600	Active TSS	Stomach Mucosa	stomach
46	chr8:48647800-48651600	Bivalent/Poised TSS	Thymus	Thymus
47	chr8:48647800-48651800	Active TSS	Brain Cingulate Gyrus	brain
48	chr8:48647800-48651800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
49	chr8:48647800-48651800	Active TSS	Colonic Mucosa	Colon
50	chr8:48647800-48651800	Active TSS	Fetal Kidney	kidney

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