Variant report

Variant	rs1985072
Chromosome Location	chr10:5927299-5927300
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:5852595..5861125-chr10:5921136..5936216,31	MCF-7	breast:
2	chr10:5912111..5919800-chr10:5923492..5927477,10	MCF-7	breast:
3	chr10:5853820..5856785-chr10:5927225..5934067,15	K562	blood:
4	chr10:5925580..5929335-chr10:5933926..5939138,5	K562	blood:
5	chr10:5853439..5857708-chr10:5926443..5936823,24	K562	blood:

Variant related genes	Relation type
ENSG00000134452	Chromatin interaction
ENSG00000272764	Chromatin interaction
ENSG00000057608	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10508298	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10508299	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11255698	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11255774	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11255780	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11255971	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11255974	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11256009	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12360409	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12767690	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12774228	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12774886	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12781700	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12785055	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17319759	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1976655	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2387092	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36049919	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56369297	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61832959	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6602330	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7067928	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7082434	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7090411	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7893735	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7919913	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34147	chr10:5726821-6105717	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	esv34061	chr10:5726821-6225187	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers 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 miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv1042286	chr10:5795129-6578445	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS 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 miRNA target site	76 gene(s)	inside rSNPs	diseases
4	nsv831775	chr10:5804335-6000849	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv5654	chr10:5868365-5930634	Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv825229	chr10:5886905-5967697	Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv466723	chr10:5920836-5930579	Strong transcription Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
8	nsv549905	chr10:5920836-5930579	Flanking Active TSS Genic enhancers Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
9	nsv466724	chr10:5920836-5938544	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
10	nsv549906	chr10:5920836-5938544	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:5913000-5929800	Weak transcription	Fetal Heart	heart
2	chr10:5913000-5929800	Weak transcription	Psoas Muscle	Psoas
3	chr10:5914000-5929600	Weak transcription	NHLF	lung
4	chr10:5915600-5930000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr10:5915600-5930000	Weak transcription	HUVEC	blood vessel
6	chr10:5915800-5930000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr10:5915800-5930200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr10:5916200-5927600	Strong transcription	Fetal Intestine Small	intestine
9	chr10:5916200-5928200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr10:5916200-5929000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr10:5916200-5929400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
12	chr10:5916200-5929800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr10:5916200-5929800	Strong transcription	Fetal Intestine Large	intestine
14	chr10:5916400-5928200	Strong transcription	Fetal Brain Female	brain
15	chr10:5916400-5929200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
16	chr10:5916400-5929800	Strong transcription	Fetal Muscle Trunk	muscle
17	chr10:5916600-5928400	Weak transcription	Small Intestine	intestine
18	chr10:5916600-5929400	Strong transcription	HUES48 Cell Line	embryonic stem cell
19	chr10:5916600-5930600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr10:5916800-5930200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr10:5917800-5927800	Strong transcription	Thymus	Thymus
22	chr10:5917800-5928600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr10:5918000-5929800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr10:5918000-5930000	Strong transcription	HUES64 Cell Line	embryonic stem cell
25	chr10:5918200-5927800	Strong transcription	Primary B cells from peripheral blood	blood
26	chr10:5918200-5928400	Strong transcription	Fetal Thymus	thymus
27	chr10:5918200-5929200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr10:5918200-5929600	Strong transcription	H1 Cell Line	embryonic stem cell
29	chr10:5918200-5930200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr10:5918600-5927600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr10:5918800-5929000	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr10:5919200-5930000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr10:5919400-5929000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr10:5919600-5928200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr10:5919600-5929800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr10:5920200-5929800	Weak transcription	Right Ventricle	heart
37	chr10:5920200-5930600	Weak transcription	Aorta	Aorta
38	chr10:5920400-5929800	Weak transcription	Colonic Mucosa	Colon
39	chr10:5920400-5930000	Weak transcription	Hela-S3	cervix
40	chr10:5923600-5928000	Strong transcription	Primary T cells fromperipheralblood	blood
41	chr10:5923600-5929200	Strong transcription	Fetal Stomach	stomach
42	chr10:5923800-5928000	Strong transcription	Adipose Nuclei	Adipose
43	chr10:5923800-5928200	Strong transcription	Primary monocytes fromperipheralblood	blood
44	chr10:5923800-5928400	Strong transcription	Stomach Smooth Muscle	stomach
45	chr10:5923800-5929000	Strong transcription	HUES6 Cell Line	embryonic stem cell
46	chr10:5923800-5929200	Strong transcription	Brain Inferior Temporal Lobe	brain
47	chr10:5923800-5929200	Strong transcription	Dnd41	blood
48	chr10:5923800-5929400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr10:5923800-5929800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
50	chr10:5923800-5929800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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