Variant report

Variant	rs7604547
Chromosome Location	chr2:190442446-190442447
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:190430886..190434055-chr2:190440352..190443388,4	K562	blood:
2	chr2:190415379..190418461-chr2:190441095..190444041,3	K562	blood:
3	chr2:190341340..190343913-chr2:190441363..190443168,2	K562	blood:
4	chr2:190441665..190443779-chr6:27103108..27105196,2	K562	blood:
5	chr2:190330753..190332897-chr2:190440426..190442932,2	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1123110	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1439813	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs1439814	0.98[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs1439815	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1821987	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4287798	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533029	chr2:189812229-190554339	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv875615	chr2:190215527-190444392	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190424800-190444400	Weak transcription	Brain Substantia Nigra	brain
2	chr2:190426600-190444200	Weak transcription	Brain Angular Gyrus	brain
3	chr2:190428400-190443800	Weak transcription	Brain Germinal Matrix	brain
4	chr2:190429000-190444400	Weak transcription	Thymus	Thymus
5	chr2:190430200-190443400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:190430400-190444600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr2:190431200-190444400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr2:190432000-190444600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr2:190434200-190444800	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr2:190434400-190444400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr2:190435800-190443000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr2:190435800-190444400	Weak transcription	NHLF	lung
13	chr2:190436000-190444800	Weak transcription	HSMM	muscle
14	chr2:190436800-190442800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr2:190438600-190444200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr2:190438800-190443000	Weak transcription	Colon Smooth Muscle	Colon
17	chr2:190438800-190444400	Weak transcription	Fetal Thymus	thymus
18	chr2:190439200-190444400	Flanking Active TSS	Liver	Liver
19	chr2:190439600-190442800	Enhancers	Small Intestine	intestine
20	chr2:190439600-190443400	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr2:190439600-190443400	Enhancers	Stomach Mucosa	stomach
22	chr2:190439600-190444600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr2:190439600-190444600	Enhancers	Primary T helper cells fromperipheralblood	blood
24	chr2:190440000-190443000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr2:190440000-190443400	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr2:190440000-190444400	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr2:190440000-190444400	Weak transcription	Lung	lung
28	chr2:190440000-190445200	Flanking Active TSS	Adipose Nuclei	Adipose
29	chr2:190440200-190442800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr2:190440200-190444200	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr2:190440200-190444600	Weak transcription	HSMMtube	muscle
32	chr2:190440200-190445000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr2:190440600-190444400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr2:190440600-190444400	Enhancers	Primary monocytes fromperipheralblood	blood
35	chr2:190441000-190442600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
36	chr2:190441000-190443000	Weak transcription	Primary T cells from cord blood	blood
37	chr2:190441000-190444600	Weak transcription	HUVEC	blood vessel
38	chr2:190441200-190442600	Enhancers	Brain Hippocampus Middle	brain
39	chr2:190441200-190443000	Genic enhancers	Fetal Muscle Leg	muscle
40	chr2:190441200-190443200	Enhancers	Pancreas	Pancrea
41	chr2:190441200-190443200	Transcr. at gene 5' and 3'	Skeletal Muscle Female	skeletal muscle
42	chr2:190441200-190443600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
43	chr2:190441200-190443600	Transcr. at gene 5' and 3'	Fetal Intestine Large	intestine
44	chr2:190441400-190444600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
45	chr2:190441400-190444600	Transcr. at gene 5' and 3'	Dnd41	blood
46	chr2:190441600-190442800	Enhancers	Fetal Brain Female	brain
47	chr2:190441600-190443200	Genic enhancers	K562	blood
48	chr2:190441600-190443400	Enhancers	Right Ventricle	heart
49	chr2:190441600-190443600	Transcr. at gene 5' and 3'	Fetal Lung	lung
50	chr2:190441600-190446400	Active TSS	Rectal Smooth Muscle	rectum

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