Variant report

Variant	rs15955
Chromosome Location	chr8:48649894-48649895
allele	C/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:41)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:41 , 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	chr11:66390889..66393382-chr8:48648876..48650745,2	MCF-7	breast:
4	chr8:48565250..48566861-chr8:48648716..48650619,2	MCF-7	breast:
5	chr8:48178486..48180700-chr8:48649233..48651294,2	K562	blood:
6	chr8:48433892..48441630-chr8:48644198..48652247,18	MCF-7	breast:
7	chr8:48435225..48441849-chr8:48646333..48652657,17	MCF-7	breast:
8	chr8:48571104..48575817-chr8:48648052..48653139,6	K562	blood:
9	chr8:48112895..48115020-chr8:48649456..48652185,2	K562	blood:
10	chr8:48586047..48588334-chr8:48649128..48651516,2	MCF-7	breast:
11	chr8:48431409..48434183-chr8:48649405..48651632,3	K562	blood:
12	chr8:48573288..48575298-chr8:48647992..48650663,2	MCF-7	breast:
13	chr8:48293039..48294618-chr8:48649399..48651169,2	MCF-7	breast:
14	chr8:48114948..48116858-chr8:48648714..48650275,2	K562	blood:
15	chr8:48284342..48286022-chr8:48648925..48651105,2	MCF-7	breast:
16	chr8:48077834..48080111-chr8:48648682..48651633,2	MCF-7	breast:
17	chr8:48649410..48651564-chr8:48691091..48693098,2	MCF-7	breast:
18	chr8:48611140..48612961-chr8:48649084..48651075,2	MCF-7	breast:
19	chr8:48635174..48641893-chr8:48648550..48652485,8	MCF-7	breast:
20	chr8:48078161..48080655-chr8:48649461..48651455,2	MCF-7	breast:
21	chr8:48648550..48651085-chr8:48656701..48659143,2	K562	blood:
22	chr8:48171500..48174751-chr8:48648690..48652421,4	K562	blood:
23	chr8:48559530..48561165-chr8:48648021..48650410,3	K562	blood:
24	chr8:48616670..48620929-chr8:48647842..48650845,3	MCF-7	breast:
25	chr8:48575452..48577775-chr8:48649068..48651275,2	K562	blood:
26	chr8:48580254..48581867-chr8:48649171..48651627,2	MCF-7	breast:
27	chr8:48282165..48284345-chr8:48648892..48650703,2	MCF-7	breast:
28	chr8:48627320..48629961-chr8:48647561..48650281,2	MCF-7	breast:
29	chr8:48516911..48521430-chr8:48646759..48650653,4	K562	blood:
30	chr8:48113591..48116230-chr8:48649014..48651468,2	MCF-7	breast:
31	chr8:48353630..48357760-chr8:48647568..48650478,4	MCF-7	breast:
32	chr8:48171892..48175366-chr8:48649107..48652421,3	K562	blood:
33	chr8:48300186..48303081-chr8:48648494..48650857,2	MCF-7	breast:
34	chr8:48222564..48225151-chr8:48648619..48650407,2	MCF-7	breast:
35	chr8:48432437..48435065-chr8:48648132..48650719,4	MCF-7	breast:
36	chr8:48648988..48650565-chr8:48654492..48656247,2	K562	blood:
37	chr8:48218179..48220522-chr8:48649833..48651549,2	MCF-7	breast:
38	chr8:48409859..48412795-chr8:48648152..48651126,2	MCF-7	breast:
39	chr8:48518004..48520090-chr8:48648537..48650198,2	K562	blood:
40	chr8:48456575..48460862-chr8:48649112..48652176,5	MCF-7	breast:
41	chr8:48170516..48173662-chr8:48648596..48652534,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000164808	Chromatin interaction
ENSG00000253330	Chromatin interaction
ENSG00000253729	Chromatin interaction
ENSG00000251354	Chromatin interaction
ENSG00000269924	Chromatin interaction
ENSG00000215177	Chromatin interaction
ENSG00000207369	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10087517	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11989844	1.00[EUR][1000 genomes]
rs17287635	1.00[AMR][1000 genomes]
rs2279431	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3824124	1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs8178050	1.00[AMR][1000 genomes]
rs8178085	1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs8178118	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
4	esv3422403	chr8:48649224-48651772	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48618200-48651200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr8:48639600-48651000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr8:48646800-48650200	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr8:48647000-48650000	Transcr. at gene 5' and 3'	Fetal Lung	lung
5	chr8:48647200-48650400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr8:48647200-48651600	Active TSS	Aorta	Aorta
7	chr8:48647200-48651600	Active TSS	Brain Substantia Nigra	brain
8	chr8:48647200-48651800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
9	chr8:48647200-48652000	Active TSS	Liver	Liver
10	chr8:48647400-48651600	Active TSS	Pancreas	Pancrea
11	chr8:48647400-48651800	Active TSS	Esophagus	oesophagus
12	chr8:48647400-48651800	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr8:48647400-48651800	Active TSS	Left Ventricle	heart
14	chr8:48647400-48651800	Active TSS	Lung	lung
15	chr8:48647400-48651800	Active TSS	Ovary	ovary
16	chr8:48647400-48652000	Active TSS	Psoas Muscle	Psoas
17	chr8:48647400-48652000	Active TSS	Right Ventricle	heart
18	chr8:48647600-48650000	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr8:48647600-48651800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr8:48647600-48651800	Active TSS	Fetal Intestine Small	intestine
21	chr8:48647600-48651800	Active TSS	Right Atrium	heart
22	chr8:48647800-48651400	Active TSS	Brain Angular Gyrus	brain
23	chr8:48647800-48651600	Active TSS	Fetal Intestine Large	intestine
24	chr8:48647800-48651600	Active TSS	Gastric	stomach
25	chr8:48647800-48651600	Active TSS	Placenta Amnion	Placenta Amnion
26	chr8:48647800-48651600	Active TSS	Rectal Mucosa Donor 29	rectum
27	chr8:48647800-48651600	Active TSS	Stomach Mucosa	stomach
28	chr8:48647800-48651600	Bivalent/Poised TSS	Thymus	Thymus
29	chr8:48647800-48651800	Active TSS	Brain Cingulate Gyrus	brain
30	chr8:48647800-48651800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
31	chr8:48647800-48651800	Active TSS	Colonic Mucosa	Colon
32	chr8:48647800-48651800	Active TSS	Fetal Kidney	kidney
33	chr8:48647800-48651800	Active TSS	Fetal Stomach	stomach
34	chr8:48647800-48651800	Active TSS	Sigmoid Colon	Sigmoid Colon
35	chr8:48647800-48651800	Active TSS	HSMM	muscle
36	chr8:48647800-48652000	Active TSS	HMEC	breast
37	chr8:48647800-48652000	Active TSS	NHDF-Ad	bronchial
38	chr8:48648000-48650800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
39	chr8:48648000-48651600	Active TSS	Brain Inferior Temporal Lobe	brain
40	chr8:48648000-48651600	Active TSS	Duodenum Mucosa	Duodenum
41	chr8:48648000-48651600	Active TSS	Fetal Muscle Leg	muscle
42	chr8:48648000-48651600	Active TSS	Placenta	Placenta
43	chr8:48648000-48651600	Active TSS	Rectal Mucosa Donor 31	rectum
44	chr8:48648000-48651800	Active TSS	Brain Anterior Caudate	brain
45	chr8:48648000-48651800	Active TSS	Fetal Muscle Trunk	muscle
46	chr8:48648000-48652000	Active TSS	Adipose Nuclei	Adipose
47	chr8:48648000-48652000	Active TSS	Skeletal Muscle Male	skeletal muscle
48	chr8:48648400-48650000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
49	chr8:48648400-48650000	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr8:48648400-48650000	Transcr. at gene 5' and 3'	NHLF	lung

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