Variant report

Variant	rs1226597
Chromosome Location	chr19:37736671-37736672
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:37731883..37734726-chr19:37736593..37738662,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs17304779	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv918028	chr19:37020645-38014526	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv3507199	chr19:37284708-37805639	Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	esv3507200	chr19:37284708-37805639	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	esv3497360	chr19:37290273-37745365	ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	esv3497361	chr19:37290273-37745365	Active TSS ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv458568	chr19:37325826-37747108	Strong transcription ZNF genes & repeats Genic enhancers Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
7	nsv579461	chr19:37325826-37747108	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
8	nsv911652	chr19:37437106-37774299	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
9	nsv911654	chr19:37487632-37758082	Strong transcription Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
10	nsv911655	chr19:37646745-37758082	ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
11	nsv961287	chr19:37708789-37742224	ZNF genes & repeats Flanking Active TSS Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	n/a
12	nsv9717	chr19:37721760-37796698	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37710400-37744200	ZNF genes & repeats	Liver	Liver
2	chr19:37711000-37737000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr19:37711000-37737800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr19:37711200-37738200	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
5	chr19:37715200-37740400	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
6	chr19:37715400-37738400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
7	chr19:37715800-37738000	ZNF genes & repeats	Duodenum Mucosa	Duodenum
8	chr19:37720800-37738600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
9	chr19:37720800-37740200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr19:37720800-37740400	ZNF genes & repeats	Adipose Nuclei	Adipose
11	chr19:37722600-37737800	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr19:37724000-37737000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr19:37724200-37737000	ZNF genes & repeats	Ovary	ovary
14	chr19:37724800-37738600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr19:37725000-37737200	ZNF genes & repeats	Primary B cells from peripheral blood	blood
16	chr19:37725000-37737200	ZNF genes & repeats	A549	lung
17	chr19:37725000-37737400	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr19:37725000-37737600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
19	chr19:37725000-37743600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
20	chr19:37725600-37737600	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
21	chr19:37725600-37737800	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
22	chr19:37725600-37737800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr19:37725600-37737800	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
24	chr19:37725800-37737400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr19:37725800-37737800	ZNF genes & repeats	Left Ventricle	heart
26	chr19:37726000-37737000	ZNF genes & repeats	Colonic Mucosa	Colon
27	chr19:37726200-37736800	ZNF genes & repeats	Rectal Smooth Muscle	rectum
28	chr19:37726400-37737000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
29	chr19:37726600-37738000	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
30	chr19:37728000-37737600	ZNF genes & repeats	Fetal Lung	lung
31	chr19:37728200-37737200	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr19:37730800-37737600	ZNF genes & repeats	Right Ventricle	heart
33	chr19:37732200-37737200	ZNF genes & repeats	Brain Anterior Caudate	brain
34	chr19:37733400-37737000	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr19:37733800-37737600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr19:37734000-37736800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr19:37734000-37737600	ZNF genes & repeats	Fetal Stomach	stomach
38	chr19:37734200-37737400	ZNF genes & repeats	Placenta	Placenta
39	chr19:37734600-37737400	Weak transcription	Fetal Muscle Trunk	muscle
40	chr19:37734800-37739400	Weak transcription	HSMM	muscle
41	chr19:37734800-37741400	Weak transcription	Fetal Heart	heart
42	chr19:37735000-37737000	ZNF genes & repeats	Fetal Intestine Small	intestine
43	chr19:37735000-37737200	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr19:37735200-37736800	ZNF genes & repeats	Pancreas	Pancrea
45	chr19:37735800-37736800	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr19:37736000-37742800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr19:37736200-37737800	ZNF genes & repeats	Primary T cells from cord blood	blood
48	chr19:37736600-37741200	Weak transcription	Stomach Smooth Muscle	stomach

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