Variant report

Variant	rs2861533
Chromosome Location	chr19:47545449-47545450
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	chr19:47536875..47541608-chr19:47542231..47546350,8	K562	blood:
2	chr19:47544284..47547116-chr19:47549771..47551356,2	K562	blood:

Variant related genes	Relation type
ENSG00000130751	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs1862499	0.82[ASN][1000 genomes]
rs3745615	0.80[ASN][1000 genomes]
rs8113623	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	esv3346722	chr19:46779000-47555828	Bivalent Enhancer Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	183 gene(s)	inside rSNPs	diseases
2	esv3319153	chr19:46779004-47555796	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer 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	183 gene(s)	inside rSNPs	diseases
3	esv3319154	chr19:46779004-47555796	Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Weak transcription Genic enhancers 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	183 gene(s)	inside rSNPs	diseases
4	esv3397605	chr19:46779033-47555776	Flanking Active TSS Bivalent Enhancer Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh 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	183 gene(s)	inside rSNPs	diseases
5	nsv917664	chr19:47482403-48177720	Active TSS Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Weak transcription 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 miRNA target site	199 gene(s)	inside rSNPs	diseases
6	nsv912192	chr19:47499031-47562123	Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
7	nsv912193	chr19:47519134-47562123	Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
8	nsv912194	chr19:47540859-47562123	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
9	nsv912195	chr19:47540859-47569003	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:47539000-47545800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr19:47539400-47545600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr19:47539600-47545600	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr19:47539600-47548200	Weak transcription	Lung	lung
5	chr19:47539600-47549200	Weak transcription	Ovary	ovary
6	chr19:47539600-47550400	Weak transcription	Left Ventricle	heart
7	chr19:47539800-47545800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr19:47539800-47545800	Weak transcription	Brain Germinal Matrix	brain
9	chr19:47539800-47547000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr19:47539800-47547200	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr19:47539800-47548400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr19:47539800-47548400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr19:47539800-47548400	Weak transcription	Gastric	stomach
14	chr19:47539800-47548600	Weak transcription	Right Ventricle	heart
15	chr19:47539800-47549400	Weak transcription	Pancreas	Pancrea
16	chr19:47539800-47550200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr19:47539800-47550400	Weak transcription	Primary T cells from cord blood	blood
18	chr19:47539800-47550400	Weak transcription	Liver	Liver
19	chr19:47539800-47550400	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr19:47539800-47550400	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr19:47539800-47550600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr19:47539800-47550600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr19:47539800-47550600	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr19:47539800-47550600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr19:47539800-47550600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr19:47539800-47550600	Weak transcription	Brain Anterior Caudate	brain
27	chr19:47539800-47550600	Weak transcription	Colon Smooth Muscle	Colon
28	chr19:47539800-47550600	Weak transcription	Right Atrium	heart
29	chr19:47539800-47550600	Weak transcription	NHLF	lung
30	chr19:47539800-47550800	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr19:47539800-47551200	Weak transcription	Aorta	Aorta
32	chr19:47540000-47545600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr19:47540000-47545600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr19:47540000-47545600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr19:47540000-47545600	Weak transcription	Fetal Intestine Small	intestine
36	chr19:47540000-47545600	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr19:47540000-47547400	Weak transcription	Fetal Stomach	stomach
38	chr19:47540000-47547600	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr19:47540000-47548400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr19:47540000-47549200	Weak transcription	Spleen	Spleen
41	chr19:47540000-47550000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr19:47540000-47550000	Weak transcription	Primary T cells fromperipheralblood	blood
43	chr19:47540000-47550200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr19:47540000-47550400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr19:47540000-47550400	Weak transcription	Adipose Nuclei	Adipose
46	chr19:47540000-47550400	Weak transcription	Fetal Muscle Trunk	muscle
47	chr19:47540000-47550400	Weak transcription	Fetal Muscle Leg	muscle
48	chr19:47540000-47550600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr19:47540000-47550600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr19:47540000-47550600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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