Variant report

Variant	rs6749738
Chromosome Location	chr2:20536235-20536236
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	chr2:20532864..20537244-chr2:20546582..20551669,7	K562	blood:
2	chr2:20530024..20532428-chr2:20534998..20536926,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000055917	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs4580351	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6758663	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7575580	1.00[AMR][1000 genomes]
rs7602723	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005366	chr2:20478859-20542134	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20522800-20537400	Weak transcription	NHLF	lung
2	chr2:20523000-20547600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr2:20523600-20537000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr2:20524400-20546400	Weak transcription	NH-A	brain
5	chr2:20526000-20544800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr2:20526600-20539400	Weak transcription	HSMM	muscle
7	chr2:20526800-20538200	Weak transcription	HUVEC	blood vessel
8	chr2:20527800-20544800	Weak transcription	Placenta	Placenta
9	chr2:20527800-20548200	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr2:20527800-20549200	Weak transcription	Aorta	Aorta
11	chr2:20528200-20546600	Weak transcription	Hela-S3	cervix
12	chr2:20528600-20546400	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr2:20529200-20536400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr2:20530800-20540000	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr2:20530800-20546200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr2:20531000-20539000	Weak transcription	Fetal Brain Female	brain
17	chr2:20531000-20544600	Weak transcription	Fetal Brain Male	brain
18	chr2:20531000-20549200	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr2:20531200-20539000	Weak transcription	Brain Germinal Matrix	brain
20	chr2:20531200-20546400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr2:20531400-20539400	Weak transcription	Fetal Intestine Large	intestine
22	chr2:20531400-20546400	Weak transcription	Fetal Kidney	kidney
23	chr2:20531400-20547800	Weak transcription	Fetal Muscle Trunk	muscle
24	chr2:20531800-20547400	Weak transcription	Fetal Muscle Leg	muscle
25	chr2:20532000-20537200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr2:20532000-20539000	Weak transcription	Fetal Intestine Small	intestine
27	chr2:20532000-20542200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr2:20532000-20547400	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr2:20532400-20542400	Enhancers	Primary T killer memory cells from peripheral blood	blood
30	chr2:20532400-20545400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
31	chr2:20533000-20538400	Enhancers	Primary B cells from peripheral blood	blood
32	chr2:20533000-20541800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
33	chr2:20533400-20536600	Enhancers	Brain Cingulate Gyrus	brain
34	chr2:20533400-20543800	Weak transcription	Primary hematopoietic stem cells	blood
35	chr2:20533600-20536400	Weak transcription	Monocytes-CD14+_RO01746	blood
36	chr2:20533600-20537600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr2:20533600-20537800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr2:20533600-20538000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr2:20533600-20539600	Enhancers	Primary T helper cells PMA-I stimulated	--
40	chr2:20533800-20539400	Enhancers	Primary B cells from cord blood	blood
41	chr2:20533800-20540000	Weak transcription	Dnd41	blood
42	chr2:20533800-20540200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
43	chr2:20533800-20540200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr2:20533800-20545200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr2:20533800-20549400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr2:20534200-20536600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr2:20534200-20539400	Enhancers	Liver	Liver
48	chr2:20534200-20542000	Enhancers	Primary T helper cells fromperipheralblood	blood
49	chr2:20534400-20538400	Enhancers	Rectal Smooth Muscle	rectum
50	chr2:20534400-20542000	Enhancers	Primary T helper naive cells from peripheral blood	blood

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