Variant report

Variant	rs12516997
Chromosome Location	chr5:108733409-108733410
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:108729605..108735076-chr5:108736217..108740580,6	K562	blood:
2	chr5:108719870..108729137-chr5:108733149..108741876,12	K562	blood:
3	chr5:108731872..108733536-chr5:108736374..108738839,2	MCF-7	breast:
4	chr5:108723396..108733420-chr5:108742049..108747062,15	K562	blood:
5	chr5:108724703..108727510-chr5:108732871..108736346,3	K562	blood:

Variant related genes	Relation type
ENSG00000198961	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs10515400	1.00[AFR][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	nsv1027163	chr5:108445447-108839913	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	esv3408953	chr5:108717102-108746052	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
3	esv3347513	chr5:108722102-108745951	Genic enhancers Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:108665400-108735000	Weak transcription	Stomach Mucosa	stomach
2	chr5:108715200-108736800	Weak transcription	Colonic Mucosa	Colon
3	chr5:108715400-108744400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr5:108716600-108734800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr5:108716800-108744800	Weak transcription	Lung	lung
6	chr5:108717000-108743200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr5:108717400-108742600	Weak transcription	HUVEC	blood vessel
8	chr5:108718600-108743600	Weak transcription	Thymus	Thymus
9	chr5:108719000-108735000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr5:108719200-108735200	Weak transcription	Fetal Thymus	thymus
11	chr5:108719200-108742400	Weak transcription	Fetal Lung	lung
12	chr5:108719400-108740400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr5:108719600-108736800	Weak transcription	Fetal Intestine Large	intestine
14	chr5:108719600-108744600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr5:108723800-108735200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr5:108724000-108742600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr5:108724200-108734600	Weak transcription	Aorta	Aorta
18	chr5:108724200-108734600	Weak transcription	Brain Cingulate Gyrus	brain
19	chr5:108724200-108734600	Weak transcription	Spleen	Spleen
20	chr5:108724200-108734800	Weak transcription	Liver	Liver
21	chr5:108724200-108734800	Weak transcription	Stomach Smooth Muscle	stomach
22	chr5:108724200-108736600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr5:108724200-108739800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr5:108724600-108735000	Weak transcription	Brain Angular Gyrus	brain
25	chr5:108724800-108735200	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr5:108725000-108735000	Weak transcription	NH-A	brain
27	chr5:108725000-108735200	Weak transcription	HSMM	muscle
28	chr5:108725200-108735000	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr5:108725200-108738400	Weak transcription	NHLF	lung
30	chr5:108725200-108742000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr5:108725200-108742200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr5:108725200-108742200	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr5:108725800-108735000	Weak transcription	Osteobl	bone
34	chr5:108725800-108742000	Weak transcription	A549	lung
35	chr5:108726000-108742000	Weak transcription	Hela-S3	cervix
36	chr5:108726400-108734600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr5:108726600-108735000	Weak transcription	NHDF-Ad	bronchial
38	chr5:108727000-108735000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr5:108727000-108735200	Weak transcription	Primary B cells from cord blood	blood
40	chr5:108727200-108735000	Weak transcription	Primary hematopoietic stem cells	blood
41	chr5:108727200-108735000	Weak transcription	Fetal Muscle Leg	muscle
42	chr5:108727400-108734800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr5:108728600-108735000	Weak transcription	Primary T cells from cord blood	blood
44	chr5:108728800-108734600	Weak transcription	Rectal Smooth Muscle	rectum
45	chr5:108728800-108735000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr5:108729200-108733600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
47	chr5:108729200-108736800	Weak transcription	Duodenum Mucosa	Duodenum
48	chr5:108729400-108735000	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr5:108730800-108734600	Weak transcription	Brain Anterior Caudate	brain
50	chr5:108730800-108739600	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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