Variant report

Variant	rs72801478
Chromosome Location	chr2:39630590-39630591
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	chr2:39629463..39631095-chr2:39633631..39635897,2	K562	blood:
2	chr2:39621678..39625449-chr2:39627882..39630825,3	MCF-7	breast:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11124679	0.83[ASN][1000 genomes]
rs2178762	0.86[ASN][1000 genomes]
rs2373534	0.80[ASN][1000 genomes]
rs2373535	0.80[ASN][1000 genomes]
rs2888601	0.81[AMR][1000 genomes]
rs4670275	0.84[AMR][1000 genomes]
rs6712274	0.87[ASN][1000 genomes]
rs72801484	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7574250	0.81[ASN][1000 genomes]
rs7578136	0.81[ASN][1000 genomes]
rs7608153	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1827292	chr2:39385155-39675339	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	esv1812828	chr2:39396457-39675339	Flanking Active TSS Strong transcription Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv997934	chr2:39473548-39751029	Enhancers Strong transcription ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:39603200-39638400	Weak transcription	Hela-S3	cervix
2	chr2:39607600-39643400	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr2:39613800-39630600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr2:39617800-39630600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:39618000-39633400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr2:39620200-39635600	Weak transcription	Primary hematopoietic stem cells	blood
7	chr2:39622000-39635400	Weak transcription	HSMM	muscle
8	chr2:39622600-39643600	Weak transcription	Brain Germinal Matrix	brain
9	chr2:39622800-39630600	Weak transcription	Fetal Stomach	stomach
10	chr2:39622800-39643200	Weak transcription	Fetal Brain Male	brain
11	chr2:39622800-39643400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr2:39625200-39630600	Weak transcription	Fetal Intestine Small	intestine
13	chr2:39625400-39630600	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr2:39625400-39634400	Weak transcription	Fetal Intestine Large	intestine
15	chr2:39626800-39630600	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr2:39626800-39634200	Weak transcription	Fetal Kidney	kidney
17	chr2:39626800-39635800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr2:39627000-39630600	Weak transcription	Stomach Smooth Muscle	stomach
19	chr2:39627000-39631400	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr2:39627000-39632200	Weak transcription	Brain Angular Gyrus	brain
21	chr2:39627000-39632400	Weak transcription	HSMMtube	muscle
22	chr2:39627000-39632800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr2:39627000-39636600	Weak transcription	Osteobl	bone
24	chr2:39627200-39633600	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr2:39627400-39630600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr2:39627400-39630600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr2:39627400-39631000	Weak transcription	Fetal Muscle Leg	muscle
28	chr2:39627400-39633600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr2:39627400-39634800	Weak transcription	Rectal Smooth Muscle	rectum
30	chr2:39627400-39635000	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr2:39627400-39636600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr2:39627400-39639600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr2:39628000-39632800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr2:39628200-39630800	Enhancers	Brain Anterior Caudate	brain
35	chr2:39628200-39631000	Enhancers	HUVEC	blood vessel
36	chr2:39628200-39631200	Weak transcription	Stomach Mucosa	stomach
37	chr2:39628200-39631600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
38	chr2:39628200-39632600	Weak transcription	Fetal Lung	lung
39	chr2:39628200-39635000	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr2:39628400-39630600	Weak transcription	Fetal Heart	heart
41	chr2:39628400-39631000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr2:39628400-39633400	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr2:39628600-39633800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr2:39628800-39631200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr2:39628800-39634800	Weak transcription	Fetal Muscle Trunk	muscle
46	chr2:39629000-39630600	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr2:39629000-39630600	Weak transcription	Lung	lung
48	chr2:39629000-39631600	Enhancers	Primary T helper cells fromperipheralblood	blood
49	chr2:39629400-39630600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
50	chr2:39629400-39630600	Weak transcription	Colon Smooth Muscle	Colon

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