Variant report

Variant	rs55977312
Chromosome Location	chr9:136735820-136735821
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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	chr9:136701985..136719064-chr9:136732605..136742545,35	MCF-7	breast:
6	chr9:136734394..136737190-chr9:136823584..136826132,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000160293	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10114092	1.00[AMR][1000 genomes]
rs10116423	1.00[AMR][1000 genomes]
rs10117330	1.00[AMR][1000 genomes]
rs10821538	1.00[AMR][1000 genomes]
rs10993858	1.00[AMR][1000 genomes]
rs10993859	1.00[AMR][1000 genomes]
rs10993867	1.00[AMR][1000 genomes]
rs10993868	1.00[AMR][1000 genomes]
rs2428119	1.00[AMR][1000 genomes]
rs2428120	1.00[AMR][1000 genomes]
rs2428121	1.00[AMR][1000 genomes]
rs2486349	1.00[AMR][1000 genomes]
rs2486352	1.00[AMR][1000 genomes]
rs2488562	1.00[AMR][1000 genomes]
rs2502733	1.00[AMR][1000 genomes]
rs2502753	1.00[AMR][1000 genomes]
rs2502764	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2510236	1.00[AMR][1000 genomes]
rs2993799	1.00[AMR][1000 genomes]
rs3003585	1.00[AMR][1000 genomes]
rs55950463	1.00[AMR][1000 genomes]
rs56908632	1.00[AMR][1000 genomes]
rs59975587	1.00[AMR][1000 genomes]
rs73662309	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73662310	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73662321	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73663862	1.00[AMR][1000 genomes]
rs9409867	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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
9	esv3356770	chr9:136735795-136736016	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 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	chr9:136727800-136738400	Weak transcription	HepG2	liver
4	chr9:136727800-136739000	Weak transcription	NHLF	lung
5	chr9:136729600-136737600	Weak transcription	HSMM	muscle
6	chr9:136729600-136780000	Weak transcription	Stomach Smooth Muscle	stomach
7	chr9:136729800-136762600	Weak transcription	Right Ventricle	heart
8	chr9:136730000-136736800	Weak transcription	HMEC	breast
9	chr9:136730000-136737000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr9:136730000-136738400	Weak transcription	Fetal Intestine Large	intestine
11	chr9:136730000-136739200	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr9:136730800-136738400	Weak transcription	A549	lung
13	chr9:136731200-136737000	Weak transcription	Hela-S3	cervix
14	chr9:136731200-136738400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr9:136731200-136738400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr9:136731200-136738400	Weak transcription	Osteobl	bone
17	chr9:136731800-136739800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr9:136732600-136736400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr9:136733800-136736800	Weak transcription	Fetal Stomach	stomach
20	chr9:136733800-136737400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr9:136734000-136736800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr9:136734000-136736800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr9:136734400-136736000	Enhancers	Primary B cells from cord blood	blood
24	chr9:136734400-136736400	Enhancers	Primary B cells from peripheral blood	blood
25	chr9:136734800-136736000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr9:136734800-136736000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr9:136734800-136736000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr9:136734800-136737000	Enhancers	Pancreas	Pancrea
29	chr9:136735200-136736000	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr9:136735200-136736000	Enhancers	Lung	lung
31	chr9:136735400-136736000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr9:136735400-136737000	Weak transcription	Fetal Muscle Trunk	muscle
33	chr9:136735400-136737200	Weak transcription	Fetal Muscle Leg	muscle
34	chr9:136735400-136738600	Weak transcription	Right Atrium	heart
35	chr9:136735600-136736000	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr9:136735600-136737000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr9:136735600-136738400	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr9:136735600-136739400	Weak transcription	Duodenum Mucosa	Duodenum
39	chr9:136735600-136740600	Weak transcription	Brain Germinal Matrix	brain
40	chr9:136735600-136744200	Weak transcription	Fetal Brain Male	brain
41	chr9:136735600-136747400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr9:136735800-136736000	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr9:136735800-136736400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr9:136735800-136736400	Weak transcription	Fetal Intestine Small	intestine
45	chr9:136735800-136736800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr9:136735800-136736800	Weak transcription	NHEK	skin
47	chr9:136735800-136737000	Weak transcription	Spleen	Spleen
48	chr9:136735800-136737200	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr9:136735800-136737600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr9:136735800-136738400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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