Variant report

Variant	rs7991
Chromosome Location	chr19:36142187-36142188
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:36138960..36141162-chr19:36141370..36144327,2	K562	blood:

Variant related genes	Relation type
ENSG00000126267	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs2267582	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2267583	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4805136	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4806186	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61502068	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7253113	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73931240	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][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	nsv432045	chr19:35556260-36520760	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv1060100	chr19:35658505-36170042	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv543993	chr19:35658505-36170042	Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
4	nsv543995	chr19:36139204-36203592	Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36140000-36147800	Weak transcription	Aorta	Aorta
2	chr19:36140000-36148800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr19:36140000-36154000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr19:36140200-36142200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr19:36140200-36152800	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr19:36140400-36142200	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr19:36140400-36142200	Enhancers	Fetal Heart	heart
8	chr19:36140400-36142600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr19:36140400-36142800	Enhancers	Primary hematopoietic stem cells	blood
10	chr19:36140400-36143200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr19:36140400-36144800	Weak transcription	Brain Angular Gyrus	brain
12	chr19:36140400-36144800	Weak transcription	Brain Cingulate Gyrus	brain
13	chr19:36140400-36144800	Weak transcription	Brain Germinal Matrix	brain
14	chr19:36140400-36144800	Weak transcription	Rectal Smooth Muscle	rectum
15	chr19:36140400-36144800	Weak transcription	HMEC	breast
16	chr19:36140400-36144800	Weak transcription	HSMMtube	muscle
17	chr19:36140400-36144800	Weak transcription	NH-A	brain
18	chr19:36140400-36145000	Weak transcription	Brain Substantia Nigra	brain
19	chr19:36140400-36145200	Weak transcription	Fetal Kidney	kidney
20	chr19:36140400-36145400	Weak transcription	NHDF-Ad	bronchial
21	chr19:36140400-36146000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr19:36140400-36146600	Weak transcription	Fetal Brain Male	brain
23	chr19:36140400-36149200	Weak transcription	Small Intestine	intestine
24	chr19:36140400-36151600	Weak transcription	Stomach Mucosa	stomach
25	chr19:36140400-36164000	Weak transcription	Right Atrium	heart
26	chr19:36140600-36142400	Genic enhancers	Primary T cells fromperipheralblood	blood
27	chr19:36140600-36143800	Strong transcription	A549	lung
28	chr19:36140600-36144000	Strong transcription	Placenta	Placenta
29	chr19:36140600-36144800	Weak transcription	Hela-S3	cervix
30	chr19:36140600-36150400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr19:36140600-36153800	Strong transcription	Fetal Intestine Small	intestine
32	chr19:36140600-36157200	Strong transcription	Fetal Stomach	stomach
33	chr19:36140800-36142200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr19:36140800-36143400	Strong transcription	Fetal Muscle Leg	muscle
35	chr19:36140800-36143800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr19:36140800-36153800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr19:36141000-36143600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr19:36141000-36143600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr19:36141000-36143800	Strong transcription	H1 Cell Line	embryonic stem cell
40	chr19:36141000-36143800	Strong transcription	Fetal Intestine Large	intestine
41	chr19:36141000-36155600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr19:36141000-36157000	Strong transcription	Fetal Muscle Trunk	muscle
43	chr19:36141200-36142200	Genic enhancers	Skeletal Muscle Male	skeletal muscle
44	chr19:36141200-36142400	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
45	chr19:36141200-36142600	Weak transcription	GM12878-XiMat	blood
46	chr19:36141200-36143800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr19:36141200-36143800	Strong transcription	HUES6 Cell Line	embryonic stem cell
48	chr19:36141200-36144800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr19:36141400-36142200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
50	chr19:36141400-36142200	Strong transcription	HUVEC	blood vessel

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