Variant report

Variant	rs62112551
Chromosome Location	chr19:37253805-37253806
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	chr19:37253172..37254822-chr19:37261292..37262895,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs62112482	1.00[AMR][1000 genomes]
rs62113943	1.00[AMR][1000 genomes]
rs62115569	0.83[AMR][1000 genomes]
rs62116090	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064851	chr19:36910259-37689721	Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv1065698	chr19:36916796-37690124	Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv543999	chr19:36916796-37690124	Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers 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	61 gene(s)	inside rSNPs	diseases
4	nsv529817	chr19:36930549-37654062	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
5	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
6	nsv469794	chr19:37129858-37310257	Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
7	nsv482392	chr19:37129858-37310257	ZNF genes & repeats Weak transcription Strong transcription Active TSS 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	27 gene(s)	inside rSNPs	diseases
8	esv34384	chr19:37134068-37330613	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
9	nsv817833	chr19:37146694-37357289	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
10	nsv470139	chr19:37171201-37264190	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
11	esv3517005	chr19:37193712-37364110	Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
12	esv3517004	chr19:37193762-37363960	ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
13	esv3517006	chr19:37193762-37363960	Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
14	nsv911649	chr19:37203249-37257192	ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
15	nsv911650	chr19:37241141-37331614	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
16	esv1829205	chr19:37252164-37285622	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	n/a
17	nsv963041	chr19:37252526-37264177	Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37194000-37254000	ZNF genes & repeats	Adipose Nuclei	Adipose
2	chr19:37194600-37258800	ZNF genes & repeats	Liver	Liver
3	chr19:37230800-37254000	ZNF genes & repeats	Left Ventricle	heart
4	chr19:37231000-37254000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
5	chr19:37234000-37254400	ZNF genes & repeats	Duodenum Mucosa	Duodenum
6	chr19:37234000-37262400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr19:37235000-37256200	ZNF genes & repeats	Dnd41	blood
8	chr19:37235000-37257800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr19:37235000-37261200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr19:37235200-37254200	ZNF genes & repeats	Fetal Brain Female	brain
11	chr19:37235200-37256000	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr19:37235200-37256200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr19:37235200-37261600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr19:37235200-37262200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
15	chr19:37235200-37262400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr19:37235400-37256200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr19:37235400-37256400	ZNF genes & repeats	Fetal Lung	lung
18	chr19:37235800-37254000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
19	chr19:37236200-37254800	ZNF genes & repeats	Primary B cells from cord blood	blood
20	chr19:37236200-37256200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
21	chr19:37236400-37254200	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
22	chr19:37236400-37258600	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
23	chr19:37236800-37254000	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
24	chr19:37238600-37254400	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
25	chr19:37238600-37257200	ZNF genes & repeats	Ovary	ovary
26	chr19:37241600-37258400	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
27	chr19:37242400-37256000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr19:37243600-37257200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr19:37243800-37254400	ZNF genes & repeats	Fetal Intestine Small	intestine
30	chr19:37244200-37254000	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
31	chr19:37245600-37261600	ZNF genes & repeats	Fetal Stomach	stomach
32	chr19:37246000-37255400	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
33	chr19:37247000-37254400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr19:37247600-37254000	ZNF genes & repeats	Fetal Intestine Large	intestine
35	chr19:37248200-37254200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
36	chr19:37248600-37254000	ZNF genes & repeats	Thymus	Thymus
37	chr19:37249200-37261800	Weak transcription	HUVEC	blood vessel
38	chr19:37250000-37254000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr19:37250200-37262000	Weak transcription	Stomach Mucosa	stomach
40	chr19:37250400-37254000	ZNF genes & repeats	Fetal Muscle Leg	muscle
41	chr19:37250400-37254000	Strong transcription	Rectal Smooth Muscle	rectum
42	chr19:37250400-37257400	Strong transcription	H1 Cell Line	embryonic stem cell
43	chr19:37250400-37262000	Weak transcription	Psoas Muscle	Psoas
44	chr19:37251000-37257200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
45	chr19:37251800-37254200	Strong transcription	H9 Cell Line	embryonic stem cell
46	chr19:37251800-37254400	Strong transcription	Placenta	Placenta
47	chr19:37252000-37254000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr19:37252000-37254000	ZNF genes & repeats	Pancreas	Pancrea
49	chr19:37252000-37256200	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr19:37252200-37261800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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