Variant report

Variant	rs4803999
Chromosome Location	chr19:38787965-38787966
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:38753031..38764322-chr19:38787496..38798494,54	MCF-7	breast:
2	chr19:38714838..38718181-chr19:38786406..38788690,3	K562	blood:
3	chr19:38776212..38777866-chr19:38786974..38788625,2	MCF-7	breast:
4	chr19:38737430..38739213-chr19:38786926..38789019,2	K562	blood:
5	chr19:38786777..38792864-chr19:38793393..38797878,11	K562	blood:
6	chr19:38780501..38782400-chr19:38787368..38790184,2	K562	blood:
7	chr19:38763242..38765156-chr19:38786994..38789269,2	K562	blood:

Variant related genes	Relation type
ENSG00000167642	Chromatin interaction
ENSG00000167644	Chromatin interaction
ENSG00000011332	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11881305	0.83[EUR][1000 genomes]
rs1821284	0.93[EUR][1000 genomes]
rs2304176	0.81[AFR][1000 genomes]
rs3178327	0.84[EUR][1000 genomes]
rs35436012	0.95[EUR][1000 genomes]
rs3843754	0.83[EUR][1000 genomes]
rs4312417	0.83[EUR][1000 genomes]
rs4802324	0.92[EUR][1000 genomes]
rs71354995	0.88[EUR][1000 genomes]
rs7260137	0.82[EUR][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	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
2	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
3	nsv911658	chr19:38785318-39002140	Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38765800-38794800	Weak transcription	Small Intestine	intestine
2	chr19:38769200-38791200	Weak transcription	Fetal Kidney	kidney
3	chr19:38769400-38795200	Weak transcription	Stomach Smooth Muscle	stomach
4	chr19:38771400-38805800	Weak transcription	Right Atrium	heart
5	chr19:38775800-38791000	Weak transcription	Liver	Liver
6	chr19:38777000-38791200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr19:38779800-38789200	Weak transcription	Adipose Nuclei	Adipose
8	chr19:38781000-38794400	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr19:38781200-38795800	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr19:38781200-38805800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr19:38781400-38795400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr19:38781400-38797800	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr19:38781600-38789200	Weak transcription	Ovary	ovary
14	chr19:38781600-38795600	Weak transcription	Right Ventricle	heart
15	chr19:38782000-38806000	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr19:38782200-38791200	Weak transcription	NHDF-Ad	bronchial
17	chr19:38782400-38798000	Weak transcription	Fetal Thymus	thymus
18	chr19:38782600-38796400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr19:38782800-38789200	Weak transcription	Gastric	stomach
20	chr19:38782800-38791200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr19:38782800-38791200	Weak transcription	Stomach Mucosa	stomach
22	chr19:38783000-38788800	Weak transcription	NHLF	lung
23	chr19:38783000-38789200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr19:38783000-38794200	Weak transcription	Primary hematopoietic stem cells	blood
25	chr19:38783000-38795600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr19:38783200-38794200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr19:38783400-38797000	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr19:38783600-38791400	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr19:38783600-38795200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr19:38784000-38788800	Weak transcription	Primary B cells from peripheral blood	blood
31	chr19:38784000-38789200	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr19:38784000-38791200	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr19:38784000-38794600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr19:38784000-38797200	Weak transcription	Primary T helper cells fromperipheralblood	blood
35	chr19:38784000-38805800	Weak transcription	Primary B cells from cord blood	blood
36	chr19:38784200-38789200	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr19:38784200-38789200	Weak transcription	HSMM	muscle
38	chr19:38784200-38789400	Weak transcription	HSMMtube	muscle
39	chr19:38784200-38790400	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr19:38784200-38790800	Weak transcription	Colonic Mucosa	Colon
41	chr19:38784200-38791200	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr19:38784200-38791200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr19:38784200-38793400	Weak transcription	Lung	lung
44	chr19:38784200-38794200	Weak transcription	Primary monocytes fromperipheralblood	blood
45	chr19:38784200-38794400	Weak transcription	Thymus	Thymus
46	chr19:38784400-38789200	Weak transcription	Fetal Stomach	stomach
47	chr19:38784400-38791200	Weak transcription	Pancreas	Pancrea
48	chr19:38784400-38794400	Weak transcription	Monocytes-CD14+_RO01746	blood
49	chr19:38784600-38788400	Weak transcription	A549	lung
50	chr19:38784800-38788000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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