Variant report

Variant	rs73505752
Chromosome Location	chr9:102863757-102863758
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr9:102863590-102863769	SH-SY5Y	brain:	n/a	n/a
2	TAL1	chr9:102863710-102864311	K562	blood:	n/a	n/a
3	GATA1	chr9:102863537-102864783	PBDE	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:102859693..102862029-chr9:102863024..102865040,3	MCF-7	breast:
2	chr9:102860210..102863951-chr9:102865614..102871017,5	K562	blood:
3	chr9:102861067..102864152-chr9:102881091..102884307,4	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-STX17-2	chr9:102863583-102864299	NONHSAT133707

No data

Variant related genes	Relation type
ERP44	TF binding region
INVS	TF binding region
RN7SL75P	TF binding region
ENSG00000023318	Chromatin interaction
ENSG00000119509	Chromatin interaction
ENSG00000270995	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs13340720	1.00[AMR][1000 genomes]
rs55801872	1.00[AMR][1000 genomes]
rs55827103	1.00[AMR][1000 genomes]
rs56153123	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73491407	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529618	chr9:102227922-103044018	Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv531599	chr9:102227922-103156864	Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv893623	chr9:102648036-103405197	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
4	nsv1048674	chr9:102752236-103038259	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv1052007	chr9:102766948-103033937	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
6	esv3343459	chr9:102862156-102864304	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	esv3405434	chr9:102862531-102863979	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:102862200-102866400	Weak transcription	Lung	lung
2	chr9:102862200-102866400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr9:102862200-102876800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr9:102862200-102876800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr9:102862200-102879800	Weak transcription	Esophagus	oesophagus
6	chr9:102862200-102881000	Weak transcription	Gastric	stomach
7	chr9:102862200-102902400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr9:102862400-102863800	Weak transcription	Fetal Muscle Trunk	muscle
9	chr9:102862400-102865000	Weak transcription	Thymus	Thymus
10	chr9:102862400-102865800	Weak transcription	Aorta	Aorta
11	chr9:102862400-102866200	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr9:102862400-102866200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr9:102862400-102866200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr9:102862400-102866200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr9:102862400-102866200	Weak transcription	Ovary	ovary
16	chr9:102862400-102866400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr9:102862400-102866400	Weak transcription	Left Ventricle	heart
18	chr9:102862400-102866400	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr9:102862400-102867800	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr9:102862400-102868200	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr9:102862400-102870000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr9:102862400-102881400	Weak transcription	Colonic Mucosa	Colon
23	chr9:102862600-102866200	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr9:102862600-102866400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr9:102862600-102866400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr9:102862600-102866400	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr9:102862600-102866800	Weak transcription	Fetal Brain Male	brain
28	chr9:102862600-102867600	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr9:102862600-102867800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr9:102862600-102867800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr9:102862800-102863800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr9:102862800-102863800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr9:102862800-102864000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr9:102862800-102864000	Weak transcription	NHEK	skin
35	chr9:102862800-102864600	Weak transcription	Fetal Stomach	stomach
36	chr9:102862800-102864800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr9:102862800-102864800	Weak transcription	Fetal Intestine Small	intestine
38	chr9:102862800-102865600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr9:102862800-102865600	Weak transcription	Liver	Liver
40	chr9:102862800-102865800	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr9:102862800-102866000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr9:102862800-102866200	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr9:102862800-102866200	Weak transcription	Primary B cells from peripheral blood	blood
44	chr9:102862800-102866200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr9:102862800-102866200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr9:102862800-102866200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr9:102862800-102866200	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr9:102862800-102866200	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr9:102862800-102866200	Weak transcription	Rectal Smooth Muscle	rectum
50	chr9:102862800-102866200	Weak transcription	Hela-S3	cervix

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