Variant report

Variant	rs60373921
Chromosome Location	chr19:39803167-39803168
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:39744596..39747577-chr19:39801988..39803692,2	K562	blood:
2	chr19:39801479..39804972-chr19:39805498..39809517,5	K562	blood:
3	chr19:39799179..39801218-chr19:39802185..39804255,2	MCF-7	breast:
4	chr19:39793347..39796509-chr19:39799969..39804115,5	K562	blood:
5	chr19:39801567..39803402-chr19:39831649..39833644,2	K562	blood:

Variant related genes	Relation type
ENSG00000269246	Chromatin interaction
ENSG00000179134	Chromatin interaction
ENSG00000213926	Chromatin interaction
ENSG00000130755	Chromatin interaction
ENSG00000128011	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs34569811	1.00[ASN][1000 genomes]
rs61407534	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73546023	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73546049	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432048	chr19:39572060-39850060	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv833830	chr19:39709538-39837846	Enhancers Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
3	nsv911679	chr19:39735106-39924129	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	198 gene(s)	inside rSNPs	diseases
4	nsv1058514	chr19:39744112-39902580	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
5	nsv911680	chr19:39792460-39924129	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	194 gene(s)	inside rSNPs	diseases
6	nsv911681	chr19:39797716-39856246	Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:39790400-39809800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr19:39790600-39810000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr19:39798200-39809800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr19:39798600-39803200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr19:39798600-39810800	Weak transcription	Right Atrium	heart
6	chr19:39798800-39803600	Weak transcription	A549	lung
7	chr19:39798800-39807400	Strong transcription	Dnd41	blood
8	chr19:39798800-39810600	Weak transcription	Primary B cells from cord blood	blood
9	chr19:39799000-39804200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr19:39799000-39810400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr19:39799200-39804200	Weak transcription	Gastric	stomach
12	chr19:39799200-39810200	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr19:39799400-39803800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr19:39799400-39804400	Weak transcription	Lung	lung
15	chr19:39799600-39803400	Weak transcription	Primary hematopoietic stem cells	blood
16	chr19:39799600-39804600	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr19:39799600-39805400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr19:39799600-39806400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr19:39799600-39809200	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr19:39799800-39803600	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr19:39799800-39805400	Weak transcription	Rectal Smooth Muscle	rectum
22	chr19:39799800-39810000	Weak transcription	Duodenum Mucosa	Duodenum
23	chr19:39800000-39810200	Weak transcription	Colon Smooth Muscle	Colon
24	chr19:39800200-39809200	Strong transcription	Primary T cells from cord blood	blood
25	chr19:39800400-39810200	Weak transcription	Fetal Lung	lung
26	chr19:39800600-39811000	Weak transcription	Small Intestine	intestine
27	chr19:39801000-39805000	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr19:39801000-39806000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr19:39801000-39806800	Strong transcription	Fetal Stomach	stomach
30	chr19:39801000-39808200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr19:39801000-39809200	Strong transcription	Thymus	Thymus
32	chr19:39801200-39807200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
33	chr19:39801200-39808200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr19:39801400-39803600	Weak transcription	Spleen	Spleen
35	chr19:39801400-39804200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr19:39801400-39804200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr19:39801400-39804400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr19:39801400-39804600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr19:39801400-39804600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr19:39801400-39810400	Weak transcription	Brain Substantia Nigra	brain
41	chr19:39801400-39810600	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr19:39801600-39804200	Weak transcription	Ovary	ovary
43	chr19:39801800-39804200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr19:39801800-39804200	Weak transcription	Brain Anterior Caudate	brain
45	chr19:39801800-39804400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr19:39801800-39805000	Weak transcription	Esophagus	oesophagus
47	chr19:39801800-39805800	Strong transcription	Cortex derived primary cultured neurospheres	brain
48	chr19:39802000-39803400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr19:39802000-39803800	Weak transcription	Primary T helper cells PMA-I stimulated	--
50	chr19:39802000-39804200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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