Variant report

Variant	rs7250622
Chromosome Location	chr19:18984843-18984844
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:18975867..18978694-chr19:18984023..18986004,2	MCF-7	breast:
2	chr19:18977955..18980267-chr19:18984796..18987025,2	MCF-7	breast:
3	chr19:18984024..18987729-chr19:18988322..18991283,4	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs4808867	0.87[EUR][1000 genomes]
rs4808868	0.86[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv911293	chr19:18872917-19050957	Flanking Active TSS Genic enhancers Strong transcription Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv911294	chr19:18872917-19093619	Active TSS Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv833777	chr19:18875936-19031076	Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv911297	chr19:18928480-19077385	Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
5	nsv911298	chr19:18928480-19093619	Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
6	nsv911299	chr19:18939954-18984843	Active TSS Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv911300	chr19:18944025-19093619	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
8	nsv470132	chr19:18964442-19054720	Active TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
9	nsv828473	chr19:18975130-18994875	Enhancers Strong transcription Genic enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18967400-18987600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr19:18973400-18986400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr19:18974600-18987600	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr19:18975600-18986400	Weak transcription	HSMMtube	muscle
5	chr19:18978000-18987200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr19:18979000-18987400	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr19:18979000-18987800	Weak transcription	A549	lung
8	chr19:18979200-18985400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr19:18979200-18986600	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr19:18979200-18987400	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr19:18979200-18987600	Weak transcription	Hela-S3	cervix
12	chr19:18979200-18987800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr19:18979400-18985000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr19:18979400-18986400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr19:18979400-18987000	Weak transcription	NHDF-Ad	bronchial
16	chr19:18979400-18989600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr19:18979600-18987200	Weak transcription	Aorta	Aorta
18	chr19:18979600-18987600	Weak transcription	HMEC	breast
19	chr19:18979600-18987800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr19:18979600-18991800	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr19:18980000-18987800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr19:18980400-19004000	Weak transcription	Psoas Muscle	Psoas
23	chr19:18980400-19004200	Strong transcription	Cortex derived primary cultured neurospheres	brain
24	chr19:18980800-18990400	Weak transcription	Pancreas	Pancrea
25	chr19:18981000-18989200	Weak transcription	NHLF	lung
26	chr19:18981400-18998000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr19:18981600-18987600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr19:18981800-18987400	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr19:18981800-18987600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr19:18981800-18987600	Strong transcription	Brain Germinal Matrix	brain
31	chr19:18981800-18987800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr19:18981800-18989400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr19:18981800-18997800	Weak transcription	Ovary	ovary
34	chr19:18981800-19005800	Weak transcription	Right Atrium	heart
35	chr19:18982000-18985200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr19:18982000-18991400	Weak transcription	Stomach Smooth Muscle	stomach
37	chr19:18982000-19002200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr19:18982200-18986400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr19:18982400-18995200	Strong transcription	Brain Anterior Caudate	brain
40	chr19:18982600-18985200	Weak transcription	Fetal Muscle Trunk	muscle
41	chr19:18982600-18987000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr19:18982600-18987400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr19:18982600-19000800	Weak transcription	Colon Smooth Muscle	Colon
44	chr19:18982800-18987000	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr19:18982800-18987400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr19:18982800-18987400	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr19:18982800-18989000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr19:18983200-18986400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr19:18983200-18987400	Weak transcription	Fetal Intestine Small	intestine
50	chr19:18983400-18998200	Strong transcription	Brain Cingulate Gyrus	brain

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