Variant report

Variant	rs12610791
Chromosome Location	chr19:38761163-38761164
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:38744133..38748742-chr19:38759216..38765543,6	K562	blood:
2	chr19:38753031..38764322-chr19:38787496..38798494,54	MCF-7	breast:
3	chr19:38760038..38762263-chr19:38805114..38807906,2	K562	blood:
4	chr19:38759485..38762494-chr19:38770790..38773902,4	K562	blood:
5	chr19:38760891..38763037-chr19:38767693..38769618,2	K562	blood:
6	chr19:38759354..38761774-chr19:38815692..38818427,2	K562	blood:
7	chr19:38760863..38762526-chr19:38824832..38826948,2	K562	blood:
8	chr19:38759881..38761740-chr19:38772402..38774668,2	K562	blood:
9	chr19:38756484..38758356-chr19:38759970..38761671,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000167644	Chromatin interaction
ENSG00000167641	Chromatin interaction
ENSG00000099338	Chromatin interaction
ENSG00000167645	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12609354	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12610606	0.81[CHB][hapmap]
rs12975244	0.83[ASN][1000 genomes]
rs12983492	0.90[CEU][hapmap];0.95[CHB][hapmap];0.86[CHD][hapmap];0.83[ASN][1000 genomes]
rs2074982	1.00[ASW][hapmap]
rs3786872	0.86[CHD][hapmap]
rs6508781	0.81[CHB][hapmap]
rs6508782	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7259936	0.81[CHB][hapmap]

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	nsv949296	chr19:38034722-38763140	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv1063471	chr19:38734744-39148392	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	73 gene(s)	inside rSNPs	diseases
3	nsv833822	chr19:38760748-38945105	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38755800-38765200	Weak transcription	Right Atrium	heart
2	chr19:38756600-38772600	Weak transcription	Primary T cells from cord blood	blood
3	chr19:38756600-38772600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr19:38756800-38761400	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr19:38756800-38772600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr19:38756800-38774800	Weak transcription	Primary B cells from peripheral blood	blood
7	chr19:38756800-38775000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr19:38756800-38778600	Weak transcription	Thymus	Thymus
9	chr19:38756800-38779600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr19:38758000-38761200	Weak transcription	Fetal Thymus	thymus
11	chr19:38758000-38765200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr19:38758000-38765200	Weak transcription	Small Intestine	intestine
13	chr19:38758000-38770800	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr19:38758000-38770800	Weak transcription	Primary B cells from cord blood	blood
15	chr19:38758000-38774200	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr19:38758200-38761600	Enhancers	Pancreas	Pancrea
17	chr19:38758200-38770800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr19:38758400-38761200	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr19:38758400-38765200	Weak transcription	Brain Hippocampus Middle	brain
20	chr19:38758400-38774400	Weak transcription	Primary hematopoietic stem cells	blood
21	chr19:38758800-38765600	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr19:38758800-38770600	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr19:38759000-38761400	Genic enhancers	Fetal Intestine Small	intestine
24	chr19:38759000-38761800	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr19:38759000-38763200	Weak transcription	Rectal Smooth Muscle	rectum
26	chr19:38759000-38768000	Weak transcription	Esophagus	oesophagus
27	chr19:38759000-38770800	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr19:38759400-38761200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr19:38759400-38764000	Weak transcription	Spleen	Spleen
30	chr19:38759400-38765200	Weak transcription	Brain Angular Gyrus	brain
31	chr19:38759400-38770800	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr19:38759600-38761600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr19:38759600-38783200	Weak transcription	Fetal Brain Male	brain
34	chr19:38759800-38762400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr19:38759800-38768200	Weak transcription	Fetal Kidney	kidney
36	chr19:38760000-38761400	Weak transcription	Colonic Mucosa	Colon
37	chr19:38760400-38761400	Enhancers	Hela-S3	cervix
38	chr19:38760400-38761600	Enhancers	Stomach Mucosa	stomach
39	chr19:38760400-38761800	Enhancers	Duodenum Mucosa	Duodenum
40	chr19:38760400-38762000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr19:38760600-38761200	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr19:38760600-38761200	Enhancers	Brain Inferior Temporal Lobe	brain
43	chr19:38760600-38761200	Weak transcription	Placenta	Placenta
44	chr19:38760600-38761600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr19:38760600-38761600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr19:38760600-38761600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr19:38760600-38761600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr19:38760600-38761600	Genic enhancers	Fetal Intestine Large	intestine
49	chr19:38760600-38761600	Enhancers	Gastric	stomach
50	chr19:38760600-38761600	Genic enhancers	Rectal Mucosa Donor 29	rectum

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