Variant report

Variant	rs2016077
Chromosome Location	chr5:95048911-95048912
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA2	chr5:95048715-95049326	K562	blood:	n/a	n/a
2	SETDB1	chr5:95048197-95049237	U2OS	brain:	n/a	n/a
3	GATA3	chr5:95047885-95048912	SK-N-SH	brain:	n/a	n/a
4	POLR2A	chr5:95048870-95049215	K562	blood:	n/a	n/a
5	TCF12	chr5:95048007-95048929	MCF-7	breast:	n/a	chr5:95048740-95048749
6	NR2F2	chr5:95045747-95049349	K562	blood:	n/a	n/a
7	CBX3	chr5:95048853-95049357	K562	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:95032657..95035811-chr5:95043701..95049648,10	MCF-7	breast:
2	chr5:94981368..94988467-chr5:95046173..95051252,17	K562	blood:
3	chr5:95031841..95037563-chr5:95043452..95050597,14	MCF-7	breast:
4	chr5:94982379..94987076-chr5:95045372..95049493,6	K562	blood:
5	chr5:94982383..94984588-chr5:95046353..95049787,5	MCF-7	breast:
6	chr5:95047472..95051247-chr5:95051726..95054261,3	MCF-7	breast:

No data

Variant related genes	Relation type
RHOBTB3	TF binding region
ENSG00000145757	Chromatin interaction
ENSG00000164292	Chromatin interaction
ENSG00000175449	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17084925	1.00[AMR][1000 genomes]
rs17084945	0.87[YRI][hapmap]
rs6876866	1.00[YRI][hapmap]
rs7711473	0.81[AFR][1000 genomes]
rs7719748	1.00[YRI][hapmap]
rs9763677	1.00[YRI][hapmap]

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	nsv598955	chr5:94903453-95136019	Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv830409	chr5:95006686-95204496	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	esv3380725	chr5:95041824-95049026	Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:95040600-95053400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr5:95042200-95051800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr5:95046000-95051800	Weak transcription	Pancreas	Pancrea
4	chr5:95046200-95051600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr5:95046400-95055600	Weak transcription	Small Intestine	intestine
6	chr5:95046600-95049200	Enhancers	HUVEC	blood vessel
7	chr5:95047000-95052600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr5:95047000-95054600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr5:95047200-95049800	Weak transcription	Adipose Nuclei	Adipose
10	chr5:95047200-95056800	Weak transcription	Fetal Muscle Leg	muscle
11	chr5:95047200-95062400	Weak transcription	Psoas Muscle	Psoas
12	chr5:95047400-95049000	Enhancers	NHEK	skin
13	chr5:95047600-95054000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr5:95047600-95058200	Weak transcription	Fetal Muscle Trunk	muscle
15	chr5:95048200-95051600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr5:95048200-95051800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr5:95048200-95052000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr5:95048200-95053400	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr5:95048200-95053800	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr5:95048200-95055800	Weak transcription	Ovary	ovary
21	chr5:95048200-95059400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr5:95048400-95049200	Enhancers	Hela-S3	cervix
23	chr5:95048400-95049400	Weak transcription	Placenta	Placenta
24	chr5:95048400-95050600	Weak transcription	NHDF-Ad	bronchial
25	chr5:95048400-95051400	Weak transcription	HSMM	muscle
26	chr5:95048400-95051800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr5:95048400-95053000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr5:95048400-95053800	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr5:95048400-95055800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr5:95048400-95055800	Weak transcription	NHLF	lung
31	chr5:95048400-95063600	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr5:95048400-95066600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr5:95048400-95066600	Weak transcription	Left Ventricle	heart
34	chr5:95048600-95049600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr5:95048600-95049800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr5:95048600-95049800	Weak transcription	Fetal Intestine Small	intestine
37	chr5:95048600-95051000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr5:95048600-95051600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr5:95048600-95051800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr5:95048600-95053800	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr5:95048600-95054000	Weak transcription	HSMMtube	muscle
42	chr5:95048800-95049200	Enhancers	K562	blood
43	chr5:95048800-95049800	Weak transcription	Fetal Intestine Large	intestine
44	chr5:95048800-95050000	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr5:95048800-95051000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr5:95048800-95051000	Weak transcription	NH-A	brain
47	chr5:95048800-95051000	Weak transcription	Osteobl	bone
48	chr5:95048800-95051400	Weak transcription	A549	lung
49	chr5:95048800-95051800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr5:95048800-95052600	Weak transcription	Fetal Heart	heart

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