Variant report

Variant	rs72916887
Chromosome Location	chr2:39217310-39217311
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	E2F4	chr2:39217239-39217337	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:39179721..39182563-chr2:39215625..39217531,2	MCF-7	breast:

Variant related genes	Relation type
SOS1	TF binding region

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1454224	0.95[AFR][1000 genomes]
rs17023202	0.87[AFR][1000 genomes]
rs17023212	0.95[AFR][1000 genomes]
rs61601281	0.84[AFR][1000 genomes]
rs72916894	0.82[AFR][1000 genomes]
rs72916897	0.97[AFR][1000 genomes]
rs72916899	0.95[AFR][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	nsv873884	chr2:39154463-39332093	Genic enhancers Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	esv2755359	chr2:39169049-39417849	Strong transcription Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv873885	chr2:39200198-39573521	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:39188000-39222400	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr2:39194400-39218600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr2:39197000-39225800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr2:39199600-39220000	Weak transcription	Brain Germinal Matrix	brain
5	chr2:39200800-39227800	Weak transcription	Fetal Heart	heart
6	chr2:39201800-39218600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr2:39202000-39218800	Weak transcription	Brain Substantia Nigra	brain
8	chr2:39202000-39221800	Weak transcription	Rectal Smooth Muscle	rectum
9	chr2:39202400-39225600	Weak transcription	Brain Cingulate Gyrus	brain
10	chr2:39202400-39228800	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr2:39205800-39242600	Weak transcription	Psoas Muscle	Psoas
12	chr2:39206000-39235800	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr2:39207600-39224400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr2:39209200-39222400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr2:39209200-39224000	Strong transcription	Placenta	Placenta
16	chr2:39209800-39224400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr2:39210000-39232000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr2:39210400-39224800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr2:39210400-39233200	Strong transcription	Rectal Mucosa Donor 29	rectum
20	chr2:39210400-39241600	Strong transcription	Adipose Nuclei	Adipose
21	chr2:39210400-39242600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr2:39210600-39229400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr2:39210600-39242400	Strong transcription	Primary T helper cells fromperipheralblood	blood
24	chr2:39210800-39218600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr2:39210800-39219200	Strong transcription	Fetal Thymus	thymus
26	chr2:39210800-39224800	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr2:39210800-39230200	Strong transcription	Dnd41	blood
28	chr2:39211000-39247600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr2:39211200-39224800	Strong transcription	Primary monocytes fromperipheralblood	blood
30	chr2:39211200-39228600	Strong transcription	HepG2	liver
31	chr2:39211400-39221200	Weak transcription	NHDF-Ad	bronchial
32	chr2:39211400-39237800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr2:39211600-39242000	Weak transcription	Stomach Mucosa	stomach
34	chr2:39211800-39231200	Strong transcription	Rectal Mucosa Donor 31	rectum
35	chr2:39211800-39239600	Strong transcription	Fetal Intestine Large	intestine
36	chr2:39213200-39218400	Weak transcription	HUVEC	blood vessel
37	chr2:39213200-39221400	Weak transcription	Colon Smooth Muscle	Colon
38	chr2:39213200-39221800	Weak transcription	HMEC	breast
39	chr2:39213400-39217400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr2:39213400-39217600	Weak transcription	HSMM	muscle
41	chr2:39213400-39218400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr2:39213400-39218400	Weak transcription	Colonic Mucosa	Colon
43	chr2:39213400-39218400	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr2:39213400-39218600	Weak transcription	Lung	lung
45	chr2:39213400-39218600	Weak transcription	Ovary	ovary
46	chr2:39213400-39218600	Weak transcription	A549	lung
47	chr2:39213400-39219200	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr2:39213400-39219400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr2:39213400-39220000	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr2:39213400-39220400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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