Variant report

Variant	rs1633757
Chromosome Location	chr9:136808632-136808633
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr9:136808313-136810358	SK-N-SH	brain:	n/a	n/a
2	EP300	chr9:136808296-136810519	SK-N-SH	brain:	n/a	chr9:136808785-136808795

No data

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

No.	Distal block	Cell Line	Cell type
1	chr9:136803551..136806327-chr9:136806459..136809194,4	K562	blood:
2	chr9:136806554..136808974-chr9:136811939..136813697,2	MCF-7	breast:
3	chr9:136779162..136780728-chr9:136807487..136809424,2	MCF-7	breast:
4	chr1:151511400..151514306-chr9:136807896..136809697,2	MCF-7	breast:
5	chr9:136802379..136805051-chr9:136807090..136809194,2	K562	blood:
6	chr9:136808221..136810435-chr9:136819072..136822048,3	K562	blood:

No data

Variant related genes	Relation type
VAV2	TF binding region
ENSG00000160293	Chromatin interaction
ENSG00000143367	Chromatin interaction
ENSG00000232536	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1768685	0.88[EUR][1000 genomes]
rs2519105	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4744527	0.85[EUR][1000 genomes]
rs481964	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs485458	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs493433	0.81[ASN][1000 genomes]
rs503596	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs532646	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs557327	0.88[EUR][1000 genomes]
rs561257	0.88[EUR][1000 genomes]
rs562000	0.88[EUR][1000 genomes]
rs578151	0.86[EUR][1000 genomes]
rs619173	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs621569	0.88[EUR][1000 genomes]
rs622543	0.88[EUR][1000 genomes]
rs636541	0.86[EUR][1000 genomes]
rs687644	0.88[EUR][1000 genomes]
rs688091	0.88[EUR][1000 genomes]
rs739449	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv894123	chr9:136682408-136852501	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv894124	chr9:136716399-136870787	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv894125	chr9:136723520-136931957	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats 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	31 gene(s)	inside rSNPs	diseases
4	nsv894127	chr9:136747832-136811772	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv894128	chr9:136753246-136906752	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv1046310	chr9:136762829-136872226	Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv894130	chr9:136767346-136906752	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS Bivalent Enhancer 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	25 gene(s)	inside rSNPs	diseases
8	nsv831748	chr9:136788484-136944326	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
9	nsv894131	chr9:136792765-136906752	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
10	nsv466626	chr9:136807770-136835343	Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
11	nsv615742	chr9:136807770-136835343	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:136753000-136813200	Weak transcription	Aorta	Aorta
2	chr9:136782000-136809000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr9:136784000-136819800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr9:136797800-136811000	Weak transcription	A549	lung
5	chr9:136801000-136815400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr9:136801200-136815600	Weak transcription	Right Atrium	heart
7	chr9:136801200-136815800	Weak transcription	Rectal Smooth Muscle	rectum
8	chr9:136801200-136820200	Weak transcription	Left Ventricle	heart
9	chr9:136801400-136809200	Weak transcription	HUVEC	blood vessel
10	chr9:136801400-136809800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr9:136801400-136810200	Weak transcription	Placenta	Placenta
12	chr9:136801400-136821200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr9:136802000-136815800	Weak transcription	Colonic Mucosa	Colon
14	chr9:136802200-136815800	Strong transcription	Fetal Intestine Small	intestine
15	chr9:136802600-136810200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr9:136802800-136816200	Weak transcription	Fetal Kidney	kidney
17	chr9:136803000-136813000	Weak transcription	Fetal Lung	lung
18	chr9:136803000-136815200	Weak transcription	HSMMtube	muscle
19	chr9:136803200-136811200	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr9:136803200-136821200	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr9:136803400-136809400	Weak transcription	HSMM	muscle
22	chr9:136803400-136809600	Weak transcription	NHLF	lung
23	chr9:136803400-136811000	Weak transcription	Hela-S3	cervix
24	chr9:136803600-136821000	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr9:136804000-136809200	Weak transcription	NHEK	skin
26	chr9:136804200-136809200	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr9:136804200-136810200	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr9:136804200-136810200	Weak transcription	Duodenum Mucosa	Duodenum
29	chr9:136804200-136810400	Weak transcription	Adipose Nuclei	Adipose
30	chr9:136804200-136813400	Weak transcription	Gastric	stomach
31	chr9:136804200-136815400	Weak transcription	Ovary	ovary
32	chr9:136804200-136815400	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr9:136804200-136819800	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr9:136804200-136820200	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr9:136804200-136821000	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr9:136804200-136821200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr9:136804400-136808800	Weak transcription	HMEC	breast
38	chr9:136804400-136809400	Weak transcription	Osteobl	bone
39	chr9:136804400-136809600	Weak transcription	GM12878-XiMat	blood
40	chr9:136804400-136810400	Weak transcription	Liver	Liver
41	chr9:136804400-136810400	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr9:136804400-136810800	Weak transcription	Stomach Smooth Muscle	stomach
43	chr9:136804400-136814800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr9:136804400-136815000	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr9:136804800-136809600	Weak transcription	Fetal Intestine Large	intestine
46	chr9:136805000-136810600	Weak transcription	Lung	lung
47	chr9:136805200-136811000	Weak transcription	HepG2	liver
48	chr9:136805600-136811200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr9:136805800-136811000	Weak transcription	Right Ventricle	heart
50	chr9:136805800-136819400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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