Variant report

Variant	rs2731815
Chromosome Location	chr5:94827495-94827496
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:94818513..94820922-chr5:94826927..94830240,3	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10040106	0.85[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.81[TSI][hapmap];0.94[ASN][1000 genomes]
rs12187674	1.00[ASW][hapmap]
rs2545842	0.85[CHB][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.81[TSI][hapmap];0.92[ASN][1000 genomes]
rs2545843	0.92[ASN][1000 genomes]
rs2731816	0.85[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.81[TSI][hapmap];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882388	chr5:94764006-94925849	Weak transcription Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv598954	chr5:94783175-94859599	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:94799200-94834800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:94810600-94827600	Strong transcription	Placenta	Placenta
3	chr5:94811000-94889400	Weak transcription	Stomach Mucosa	stomach
4	chr5:94811200-94835600	Strong transcription	Rectal Mucosa Donor 29	rectum
5	chr5:94812400-94835600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
6	chr5:94815400-94827600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr5:94815400-94853200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr5:94817200-94849000	Weak transcription	Small Intestine	intestine
9	chr5:94817400-94865600	Strong transcription	Osteobl	bone
10	chr5:94818000-94882400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr5:94819600-94828000	Strong transcription	HSMMtube	muscle
12	chr5:94821600-94827600	Strong transcription	Skeletal Muscle Male	skeletal muscle
13	chr5:94821800-94828000	Strong transcription	Rectal Smooth Muscle	rectum
14	chr5:94822400-94830600	Strong transcription	HSMM	muscle
15	chr5:94822400-94835800	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr5:94822400-94839600	Strong transcription	HUES6 Cell Line	embryonic stem cell
17	chr5:94822400-94840600	Strong transcription	HUES48 Cell Line	embryonic stem cell
18	chr5:94822400-94847800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr5:94822600-94836400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr5:94823200-94834000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr5:94823200-94839600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr5:94823400-94834000	Weak transcription	Right Ventricle	heart
23	chr5:94823400-94834800	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr5:94823400-94834800	Weak transcription	Pancreas	Pancrea
25	chr5:94824400-94862200	Weak transcription	Colonic Mucosa	Colon
26	chr5:94824600-94827600	Strong transcription	Duodenum Mucosa	Duodenum
27	chr5:94824800-94827800	Strong transcription	Duodenum Smooth Muscle	Duodenum
28	chr5:94824800-94843800	Strong transcription	Liver	Liver
29	chr5:94824800-94847200	Weak transcription	Brain Substantia Nigra	brain
30	chr5:94824800-94866000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr5:94825000-94827600	Strong transcription	Primary B cells from peripheral blood	blood
32	chr5:94825000-94828000	Strong transcription	Fetal Kidney	kidney
33	chr5:94825000-94829400	Weak transcription	NHLF	lung
34	chr5:94825000-94831400	Weak transcription	Aorta	Aorta
35	chr5:94825000-94835200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr5:94825000-94886200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr5:94825200-94827800	Strong transcription	Primary T helper cells PMA-I stimulated	--
38	chr5:94825200-94828000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
39	chr5:94825200-94828000	Strong transcription	Rectal Mucosa Donor 31	rectum
40	chr5:94825200-94828800	Weak transcription	Brain Angular Gyrus	brain
41	chr5:94825200-94830400	Strong transcription	Fetal Lung	lung
42	chr5:94825200-94831400	Weak transcription	Thymus	Thymus
43	chr5:94825200-94832800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr5:94825200-94834800	Weak transcription	Lung	lung
45	chr5:94825200-94835200	Strong transcription	Adipose Nuclei	Adipose
46	chr5:94825200-94866000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr5:94825400-94834800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr5:94825400-94835200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr5:94825400-94839800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr5:94825400-94852200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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