Variant report

Variant	rs7865642
Chromosome Location	chr9:116254548-116254549
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:116252798..116255081-chr9:116267283..116269003,2	K562	blood:
2	chr9:116254507..116256265-chr9:116258071..116260770,2	MCF-7	breast:
3	chr9:116244673..116249213-chr9:116254294..116256965,4	K562	blood:
4	chr9:116245986..116247736-chr9:116254544..116256250,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000138835	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10981835	0.82[YRI][hapmap]
rs12346476	1.00[EUR][1000 genomes]
rs60969910	1.00[EUR][1000 genomes]
rs6478021	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7023224	1.00[EUR][1000 genomes]
rs7027261	1.00[EUR][1000 genomes]
rs7032245	1.00[EUR][1000 genomes]
rs7032414	1.00[EUR][1000 genomes]
rs7033489	1.00[EUR][1000 genomes]
rs7038258	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7042609	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73538901	1.00[EUR][1000 genomes]
rs73544687	1.00[EUR][1000 genomes]
rs73544688	1.00[EUR][1000 genomes]
rs7851265	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7853612	1.00[EUR][1000 genomes]
rs7856713	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7864169	1.00[EUR][1000 genomes]
rs7866866	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7867017	1.00[EUR][1000 genomes]
rs7870008	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530949	chr9:115821128-116487796	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv893747	chr9:116214058-116386438	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv466508	chr9:116244982-116362738	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv615215	chr9:116244982-116362738	Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv526579	chr9:116244982-116391162	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	esv3341463	chr9:116252081-116254579	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:116227400-116263800	Weak transcription	Colonic Mucosa	Colon
2	chr9:116240400-116254600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr9:116242000-116255200	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr9:116242000-116263600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr9:116242000-116266200	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr9:116246800-116254800	Weak transcription	Fetal Muscle Trunk	muscle
7	chr9:116247000-116254600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr9:116247000-116254800	Weak transcription	Stomach Mucosa	stomach
9	chr9:116247200-116254600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr9:116248200-116259400	Weak transcription	Gastric	stomach
11	chr9:116248600-116261600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr9:116248800-116261600	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr9:116249000-116254800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr9:116249400-116254600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr9:116251000-116254600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr9:116251000-116263800	Weak transcription	Esophagus	oesophagus
17	chr9:116251200-116254600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr9:116251200-116254600	Weak transcription	Placenta	Placenta
19	chr9:116251200-116254600	Weak transcription	Left Ventricle	heart
20	chr9:116251200-116254600	Weak transcription	Lung	lung
21	chr9:116251200-116254800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr9:116251200-116263200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr9:116251400-116254600	Weak transcription	Fetal Stomach	stomach
24	chr9:116251400-116254800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr9:116251400-116255000	Weak transcription	Colon Smooth Muscle	Colon
26	chr9:116251400-116255000	Weak transcription	HSMMtube	muscle
27	chr9:116251600-116254600	Weak transcription	NHDF-Ad	bronchial
28	chr9:116251600-116283800	Weak transcription	Hela-S3	cervix
29	chr9:116251800-116254600	Weak transcription	NHLF	lung
30	chr9:116251800-116254800	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr9:116251800-116261600	Weak transcription	HepG2	liver
32	chr9:116252000-116254600	Weak transcription	Fetal Intestine Large	intestine
33	chr9:116252000-116260200	Weak transcription	Duodenum Mucosa	Duodenum
34	chr9:116252200-116254600	Weak transcription	Fetal Intestine Small	intestine
35	chr9:116252400-116254600	Weak transcription	Primary hematopoietic stem cells	blood
36	chr9:116252400-116254600	Weak transcription	Psoas Muscle	Psoas
37	chr9:116252400-116254600	Weak transcription	Rectal Smooth Muscle	rectum
38	chr9:116252400-116273200	Weak transcription	Pancreas	Pancrea
39	chr9:116252600-116262000	Weak transcription	A549	lung
40	chr9:116252800-116254600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr9:116253000-116254600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr9:116253600-116256000	Enhancers	Right Ventricle	heart
43	chr9:116253600-116256200	Enhancers	Skeletal Muscle Female	skeletal muscle
44	chr9:116253600-116256400	Enhancers	Fetal Muscle Leg	muscle
45	chr9:116253600-116256600	Enhancers	Fetal Heart	heart
46	chr9:116253600-116257000	Enhancers	Skeletal Muscle Male	skeletal muscle
47	chr9:116253600-116257200	Enhancers	Cortex derived primary cultured neurospheres	brain
48	chr9:116253800-116256000	Enhancers	Fetal Lung	lung
49	chr9:116254000-116259200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr9:116254200-116255400	Enhancers	Fetal Kidney	kidney

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