Variant report

Variant	rs2305115
Chromosome Location	chr19:37835658-37835659
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11083424	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes]
rs16972028	1.00[JPT][hapmap]
rs17304779	1.00[CEU][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap]
rs2112921	0.93[EUR][1000 genomes]
rs2921560	1.00[ASN][1000 genomes]
rs2921563	1.00[ASW][hapmap];1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.88[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2972597	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2972598	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2972600	0.88[ASN][1000 genomes]
rs3745763	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap]
rs56743641	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56917663	0.93[EUR][1000 genomes]
rs59957425	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60159855	0.81[EUR][1000 genomes]
rs61290534	0.93[EUR][1000 genomes]
rs6508718	1.00[CEU][hapmap];0.94[YRI][hapmap];0.93[EUR][1000 genomes]
rs7247654	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7254780	1.00[CEU][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.87[EUR][1000 genomes]
rs7255938	1.00[CEU][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs7259321	0.90[EUR][1000 genomes]
rs8100308	0.90[EUR][1000 genomes]
rs8109806	1.00[ASW][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.93[EUR][1000 genomes]
rs8110164	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][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	nsv918028	chr19:37020645-38014526	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv2757695	chr19:37794850-38051606	Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	esv2758759	chr19:37794850-38051606	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv1057688	chr19:37828019-37988253	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 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	chr19:37826200-37853200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr19:37826400-37837800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr19:37826400-37838200	Weak transcription	HUVEC	blood vessel
4	chr19:37826600-37838000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr19:37826600-37848800	Weak transcription	Small Intestine	intestine
6	chr19:37826600-37856200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr19:37826600-37861600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr19:37826800-37836200	Weak transcription	Gastric	stomach
9	chr19:37826800-37838000	Weak transcription	Psoas Muscle	Psoas
10	chr19:37826800-37846600	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr19:37826800-37847000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr19:37826800-37852600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr19:37826800-37853400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr19:37827000-37837000	Weak transcription	Colon Smooth Muscle	Colon
15	chr19:37827000-37837000	Weak transcription	NHLF	lung
16	chr19:37827000-37838000	Weak transcription	Pancreas	Pancrea
17	chr19:37827000-37838400	Weak transcription	Hela-S3	cervix
18	chr19:37827000-37845800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr19:37827000-37853400	Weak transcription	Stomach Mucosa	stomach
20	chr19:37827200-37837200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr19:37827200-37838600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr19:37828000-37855800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr19:37828200-37838200	Weak transcription	Fetal Brain Male	brain
24	chr19:37828400-37838000	Weak transcription	Right Atrium	heart
25	chr19:37830000-37835800	Weak transcription	Brain Substantia Nigra	brain
26	chr19:37830000-37846800	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr19:37830000-37853600	Strong transcription	HUES64 Cell Line	embryonic stem cell
28	chr19:37830800-37853200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr19:37831200-37836400	ZNF genes & repeats	A549	lung
30	chr19:37831800-37840400	Strong transcription	Ovary	ovary
31	chr19:37831800-37840600	Strong transcription	Cortex derived primary cultured neurospheres	brain
32	chr19:37831800-37842000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr19:37831800-37846400	Strong transcription	Dnd41	blood
34	chr19:37832000-37842000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr19:37832200-37840600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr19:37832200-37840800	Strong transcription	Primary T cells from cord blood	blood
37	chr19:37832200-37842000	Strong transcription	Skeletal Muscle Female	skeletal muscle
38	chr19:37832400-37836000	Weak transcription	Fetal Heart	heart
39	chr19:37832600-37838800	Weak transcription	HepG2	liver
40	chr19:37832600-37843200	Strong transcription	HUES6 Cell Line	embryonic stem cell
41	chr19:37832600-37852200	Weak transcription	Fetal Thymus	thymus
42	chr19:37832800-37850800	Weak transcription	HMEC	breast
43	chr19:37832800-37852400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr19:37833000-37837000	Weak transcription	Brain Germinal Matrix	brain
45	chr19:37833000-37838800	Weak transcription	NHEK	skin
46	chr19:37833000-37845400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
47	chr19:37833200-37838000	Weak transcription	Colonic Mucosa	Colon
48	chr19:37833600-37840800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr19:37833800-37836000	ZNF genes & repeats	Duodenum Mucosa	Duodenum
50	chr19:37833800-37837000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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