Variant report

Variant	rs2073830
Chromosome Location	chr9:136735374-136735375
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:136734507..136736594-chr9:136741200..136744507,3	K562	blood:
2	chr9:136733619..136743972-chr9:136852076..136861381,50	MCF-7	breast:
3	chr9:136732119..136736339-chr9:136737588..136739921,3	K562	blood:
4	chr9:136655680..136661750-chr9:136735179..136740692,8	MCF-7	breast:
5	chr9:136695836..136698829-chr9:136733827..136735666,2	MCF-7	breast:
6	chr9:136701985..136719064-chr9:136732605..136742545,35	MCF-7	breast:
7	chr9:136730272..136735488-chr9:136855005..136861125,10	MCF-7	breast:
8	chr9:136734394..136737190-chr9:136823584..136826132,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000160293	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10114138	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs10114514	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10116085	0.97[ASN][1000 genomes]
rs10217798	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10739995	0.86[EUR][1000 genomes]
rs10821527	0.88[CEU][hapmap];0.94[EUR][1000 genomes]
rs10821528	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10821530	1.00[ASN][1000 genomes]
rs10821531	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10993823	1.00[JPT][hapmap]
rs10993826	0.87[CEU][hapmap]
rs10993836	0.81[CEU][hapmap]
rs12002290	1.00[CHB][hapmap]
rs2073929	0.87[CEU][hapmap]
rs2260095	0.82[CEU][hapmap]
rs2486350	0.88[CEU][hapmap]
rs2486351	0.88[CEU][hapmap]
rs2510254	0.88[CEU][hapmap]
rs3780737	0.87[CEU][hapmap];0.96[EUR][1000 genomes]
rs3780741	0.80[CEU][hapmap]
rs3819500	0.87[CEU][hapmap]
rs3819502	0.87[CEU][hapmap]
rs57520738	0.94[EUR][1000 genomes]
rs61034217	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7021948	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7022082	0.88[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7025684	0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7025729	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7025939	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7026235	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7034805	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7038256	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7044185	0.93[EUR][1000 genomes]
rs7046381	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs739466	0.82[CEU][hapmap]
rs7852459	1.00[CHB][hapmap];0.83[EUR][1000 genomes]
rs7853626	0.87[CEU][hapmap];0.80[EUR][1000 genomes]
rs7859624	0.94[EUR][1000 genomes]
rs9657700	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9657701	0.88[AMR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv894114	chr9:136538798-136779153	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv831745	chr9:136593702-136780273	Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv831746	chr9:136607829-136750740	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv894122	chr9:136632662-136760639	Enhancers Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv1035272	chr9:136665308-136772256	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	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
7	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
8	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

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:136711400-136737800	Weak transcription	NH-A	brain
2	chr9:136721400-136738600	Weak transcription	HUVEC	blood vessel
3	chr9:136726200-136735400	Weak transcription	Aorta	Aorta
4	chr9:136727800-136738400	Weak transcription	HepG2	liver
5	chr9:136727800-136739000	Weak transcription	NHLF	lung
6	chr9:136729600-136737600	Weak transcription	HSMM	muscle
7	chr9:136729600-136780000	Weak transcription	Stomach Smooth Muscle	stomach
8	chr9:136729800-136762600	Weak transcription	Right Ventricle	heart
9	chr9:136730000-136735400	Weak transcription	Spleen	Spleen
10	chr9:136730000-136736800	Weak transcription	HMEC	breast
11	chr9:136730000-136737000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr9:136730000-136738400	Weak transcription	Fetal Intestine Large	intestine
13	chr9:136730000-136739200	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr9:136730800-136738400	Weak transcription	A549	lung
15	chr9:136731200-136737000	Weak transcription	Hela-S3	cervix
16	chr9:136731200-136738400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr9:136731200-136738400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr9:136731200-136738400	Weak transcription	Osteobl	bone
19	chr9:136731800-136739800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr9:136732600-136736400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr9:136733800-136736800	Weak transcription	Fetal Stomach	stomach
22	chr9:136733800-136737400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr9:136734000-136735800	Enhancers	Primary hematopoietic stem cells	blood
24	chr9:136734000-136736800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr9:136734000-136736800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr9:136734400-136735400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr9:136734400-136735800	Enhancers	Placenta Amnion	Placenta Amnion
28	chr9:136734400-136736000	Enhancers	Primary B cells from cord blood	blood
29	chr9:136734400-136736400	Enhancers	Primary B cells from peripheral blood	blood
30	chr9:136734600-136735600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
31	chr9:136734600-136735600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
32	chr9:136734600-136735600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr9:136734600-136735800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
34	chr9:136734800-136735400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
35	chr9:136734800-136735400	Enhancers	Fetal Muscle Trunk	muscle
36	chr9:136734800-136735400	Enhancers	Fetal Muscle Leg	muscle
37	chr9:136734800-136735400	Bivalent Enhancer	Placenta	Placenta
38	chr9:136734800-136735600	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
39	chr9:136734800-136735600	Enhancers	Primary T cells from cord blood	blood
40	chr9:136734800-136735600	Enhancers	Primary T helper naive cells from peripheral blood	blood
41	chr9:136734800-136735600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
42	chr9:136734800-136735600	Enhancers	Primary T helper cells PMA-I stimulated	--
43	chr9:136734800-136735600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr9:136734800-136735800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
45	chr9:136734800-136735800	Enhancers	Primary T helper cells fromperipheralblood	blood
46	chr9:136734800-136735800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr9:136734800-136735800	Enhancers	Liver	Liver
48	chr9:136734800-136735800	Enhancers	Fetal Brain Female	brain
49	chr9:136734800-136735800	Genic enhancers	Fetal Intestine Small	intestine
50	chr9:136734800-136735800	Enhancers	Fetal Lung	lung

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