Variant report

Variant	rs34482977
Chromosome Location	chr19:18824038-18824039
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:18818633..18820154-chr19:18823817..18825970,2	MCF-7	breast:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10423674	0.81[ASN][1000 genomes]
rs11085240	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11085241	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11668545	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11668587	0.81[ASN][1000 genomes]
rs11880800	0.93[EUR][1000 genomes]
rs12460629	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12462498	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2003475	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2023878	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2240012	0.85[EUR][1000 genomes]
rs60021783	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs757317	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8113096	0.87[AMR][1000 genomes];0.86[EUR][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	nsv1057795	chr19:18453362-18883844	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
2	nsv543925	chr19:18453362-18883844	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
3	nsv911282	chr19:18624964-18928480	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
4	nsv960927	chr19:18808010-18837082	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18812000-18844200	Weak transcription	Fetal Kidney	kidney
2	chr19:18812400-18827600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr19:18812400-18827800	Weak transcription	Brain Germinal Matrix	brain
4	chr19:18812600-18825800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr19:18812600-18828200	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr19:18818000-18836600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr19:18819000-18844000	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr19:18819600-18824400	Weak transcription	Aorta	Aorta
9	chr19:18820000-18826400	Weak transcription	Thymus	Thymus
10	chr19:18820000-18826600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr19:18820400-18833000	Weak transcription	Duodenum Mucosa	Duodenum
12	chr19:18820400-18837000	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr19:18820400-18847200	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr19:18820600-18846600	Weak transcription	Esophagus	oesophagus
15	chr19:18820800-18828200	Weak transcription	Gastric	stomach
16	chr19:18820800-18832800	Weak transcription	HSMM	muscle
17	chr19:18821200-18824200	Weak transcription	Lung	lung
18	chr19:18821200-18824400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr19:18821200-18827800	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr19:18821200-18828400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr19:18821200-18828600	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr19:18821200-18829000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr19:18821200-18833000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr19:18821200-18834400	Weak transcription	Primary hematopoietic stem cells	blood
25	chr19:18821200-18844000	Weak transcription	Colonic Mucosa	Colon
26	chr19:18821200-18860600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr19:18821200-18861000	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr19:18821200-18864800	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr19:18821400-18826400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr19:18821400-18828000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr19:18821800-18827000	Strong transcription	Fetal Intestine Small	intestine
32	chr19:18822000-18833000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr19:18822200-18824200	Weak transcription	Fetal Thymus	thymus
34	chr19:18822200-18828200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr19:18822200-18828400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr19:18822200-18830600	Weak transcription	Rectal Smooth Muscle	rectum
37	chr19:18822400-18826800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr19:18822400-18833400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr19:18822400-18835600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr19:18822600-18827400	Weak transcription	Spleen	Spleen
41	chr19:18822600-18827600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr19:18822600-18827800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr19:18822600-18828400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr19:18822600-18830000	Weak transcription	Fetal Intestine Large	intestine
45	chr19:18822600-18836400	Weak transcription	Adipose Nuclei	Adipose
46	chr19:18822600-18843800	Weak transcription	Colon Smooth Muscle	Colon
47	chr19:18822600-18844000	Weak transcription	NHLF	lung
48	chr19:18822800-18824400	Weak transcription	Ovary	ovary
49	chr19:18822800-18827000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
50	chr19:18822800-18827600	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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