Variant report

Variant	rs6705323
Chromosome Location	chr2:182236208-182236209
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

rs_ID	r²[population]
rs16867404	0.88[JPT][hapmap]
rs6433911	0.84[AFR][1000 genomes]
rs908079	0.81[AFR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005870	chr2:181968637-182921439	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv536063	chr2:181968637-182921439	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv1002647	chr2:182078521-182392273	Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
4	nsv536064	chr2:182078521-182392273	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
5	nsv834476	chr2:182179249-182360259	Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 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	chr2:182233200-182237200	Weak transcription	Fetal Kidney	kidney
2	chr2:182234000-182238200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr2:182234400-182238400	Enhancers	Dnd41	blood
4	chr2:182235000-182237400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr2:182235000-182237600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr2:182235400-182237800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr2:182235600-182237600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:182235600-182238000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr2:182235600-182240600	Enhancers	HSMMtube	muscle
10	chr2:182235800-182237000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr2:182235800-182237400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
12	chr2:182235800-182237600	Enhancers	Primary T cells from cord blood	blood
13	chr2:182235800-182237600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr2:182235800-182237800	Enhancers	Primary T helper naive cells from peripheral blood	blood
15	chr2:182235800-182237800	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr2:182235800-182238000	Enhancers	Primary T cells fromperipheralblood	blood
17	chr2:182235800-182238000	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr2:182235800-182238000	Enhancers	Primary T killer memory cells from peripheral blood	blood
19	chr2:182235800-182238000	Enhancers	HUVEC	blood vessel
20	chr2:182235800-182238200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr2:182235800-182238200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr2:182235800-182238400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr2:182235800-182238400	Enhancers	Fetal Thymus	thymus
24	chr2:182235800-182238400	Enhancers	HSMM	muscle
25	chr2:182236000-182236800	Weak transcription	Fetal Muscle Leg	muscle
26	chr2:182236000-182236800	Enhancers	Psoas Muscle	Psoas
27	chr2:182236000-182237000	Enhancers	Rectal Smooth Muscle	rectum
28	chr2:182236000-182237200	Enhancers	Small Intestine	intestine
29	chr2:182236000-182237400	Enhancers	NHLF	lung
30	chr2:182236000-182237600	Enhancers	Muscle Satellite Cultured Cells	--
31	chr2:182236000-182237800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
32	chr2:182236000-182237800	Enhancers	Stomach Smooth Muscle	stomach
33	chr2:182236000-182237800	Enhancers	Thymus	Thymus
34	chr2:182236000-182238000	Enhancers	Primary T helper cells fromperipheralblood	blood
35	chr2:182236000-182238000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
36	chr2:182236000-182238200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
37	chr2:182236000-182238400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr2:182236000-182238400	Enhancers	Fetal Stomach	stomach
39	chr2:182236000-182238600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr2:182236000-182238800	Enhancers	NHDF-Ad	bronchial
41	chr2:182236000-182239000	Enhancers	Primary hematopoietic stem cells	blood
42	chr2:182236200-182236400	Flanking Active TSS	GM12878-XiMat	blood
43	chr2:182236200-182237000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr2:182236200-182237000	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr2:182236200-182237000	Enhancers	Brain Germinal Matrix	brain
46	chr2:182236200-182237400	Enhancers	Duodenum Smooth Muscle	Duodenum
47	chr2:182236200-182237600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr2:182236200-182238000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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