Variant report

Variant	rs3800476
Chromosome Location	chr6:34382735-34382736
allele	A/G
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:24)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:24 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:34194332..34197149-chr6:34382426..34385429,3	K562	blood:
2	chr6:34382272..34384689-chr6:34494911..34496600,2	K562	blood:
3	chr6:34216446..34218466-chr6:34382282..34384611,2	MCF-7	breast:
4	chr6:34206861..34220421-chr6:34379359..34386848,24	K562	blood:
5	chr6:34164046..34167260-chr6:34381691..34384552,3	K562	blood:
6	chr6:34209557..34211500-chr6:34382347..34384028,2	K562	blood:
7	chr6:34216482..34217456-chr6:34382459..34383653,7	K562	blood:
8	chr6:34210046..34211702-chr6:34381668..34384170,2	MCF-7	breast:
9	chr6:34356693..34361584-chr6:34376924..34385699,12	K562	blood:
10	chr6:34212124..34218246-chr6:34379945..34387655,19	K562	blood:
11	chr6:34199984..34203528-chr6:34381840..34383462,3	K562	blood:
12	chr6:34204263..34206789-chr6:34380798..34383296,3	K562	blood:
13	chr6:34204518..34207375-chr6:34381425..34383051,2	MCF-7	breast:
14	chr6:34380846..34383756-chr6:34617372..34620116,2	K562	blood:
15	chr6:34216383..34217347-chr6:34382706..34383715,3	MCF-7	breast:
16	chr6:34358383..34362134-chr6:34382278..34385330,4	K562	blood:
17	chr6:34382616..34385085-chr6:34576008..34577878,2	K562	blood:
18	chr6:34358999..34362985-chr6:34379646..34383130,5	MCF-7	breast:
19	chr6:34381801..34383891-chr6:34543770..34545644,2	K562	blood:
20	chr6:34162021..34165758-chr6:34380623..34387316,6	K562	blood:
21	chr6:34202204..34208226-chr6:34378240..34384748,6	K562	blood:
22	chr6:34163606..34165141-chr6:34381217..34383294,2	MCF-7	breast:
23	chr6:34236991..34239302-chr6:34382683..34384856,2	K562	blood:
24	chr6:34164779..34167229-chr6:34380902..34383659,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000196114	Chromatin interaction
ENSG00000137309	Chromatin interaction
ENSG00000186577	Chromatin interaction
ENSG00000272325	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs12662460	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12664001	0.91[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12665397	0.89[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs16889706	0.91[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs16889714	0.91[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2395562	0.85[AMR][1000 genomes]
rs3778077	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs3798562	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs3798564	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs3800477	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4295465	0.86[AMR][1000 genomes]
rs4336441	0.86[AMR][1000 genomes]
rs4713773	0.80[AMR][1000 genomes]
rs4713774	0.81[AMR][1000 genomes]
rs4713775	0.91[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4713776	0.91[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4713777	0.88[AMR][1000 genomes]
rs4713780	0.91[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4713781	0.88[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4713783	0.89[AMR][1000 genomes]
rs4713784	0.89[AMR][1000 genomes]
rs4713786	0.85[AMR][1000 genomes]
rs4713787	0.92[AMR][1000 genomes]
rs4713793	0.86[AMR][1000 genomes]
rs4713795	0.83[AMR][1000 genomes]
rs4713798	1.00[AFR][1000 genomes]
rs58648597	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs59310759	0.81[AMR][1000 genomes]
rs60100381	0.84[AMR][1000 genomes]
rs61582147	0.87[AMR][1000 genomes]
rs6935129	0.90[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs9348940	0.88[AMR][1000 genomes]
rs9368815	0.87[AMR][1000 genomes]
rs9368817	0.86[AMR][1000 genomes]
rs9380439	0.86[AMR][1000 genomes]
rs9766229	0.86[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022844	chr6:34317219-35060519	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv538195	chr6:34317219-35060519	Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	esv2758046	chr6:34382492-34714677	Genic enhancers Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	esv2759418	chr6:34382492-34714677	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34361000-34384800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr6:34361200-34384800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr6:34370000-34383400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr6:34371200-34383400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr6:34371400-34384000	Weak transcription	Right Ventricle	heart
6	chr6:34372400-34389400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr6:34375200-34383600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr6:34375600-34383600	Weak transcription	Fetal Brain Female	brain
9	chr6:34377200-34384800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr6:34377400-34383400	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr6:34377400-34383400	Weak transcription	Lung	lung
12	chr6:34377400-34383800	Weak transcription	Esophagus	oesophagus
13	chr6:34377400-34385000	Weak transcription	Psoas Muscle	Psoas
14	chr6:34378000-34383600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr6:34378600-34382800	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr6:34378600-34382800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr6:34378600-34383400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr6:34378600-34383800	Weak transcription	Left Ventricle	heart
19	chr6:34378800-34383600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr6:34378800-34383800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr6:34378800-34383800	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr6:34378800-34385000	Weak transcription	Aorta	Aorta
23	chr6:34379000-34383400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr6:34379000-34383800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr6:34379000-34383800	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr6:34379200-34382800	Weak transcription	Primary B cells from peripheral blood	blood
27	chr6:34379200-34384800	Weak transcription	Hela-S3	cervix
28	chr6:34379200-34384800	Weak transcription	HSMMtube	muscle
29	chr6:34379200-34385400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr6:34379200-34391800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr6:34379400-34383800	Weak transcription	Primary B cells from cord blood	blood
32	chr6:34379400-34384600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr6:34379600-34383800	Weak transcription	NHLF	lung
34	chr6:34380000-34382800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
35	chr6:34380200-34384800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr6:34380400-34382800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr6:34380800-34383800	Weak transcription	HSMM	muscle
38	chr6:34381000-34383000	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr6:34381000-34383800	Weak transcription	Primary hematopoietic stem cells	blood
40	chr6:34381000-34384000	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr6:34381000-34384000	Weak transcription	NH-A	brain
42	chr6:34381200-34382800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr6:34381200-34383400	Weak transcription	Fetal Stomach	stomach
44	chr6:34381200-34383800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr6:34381200-34383800	Weak transcription	HMEC	breast
46	chr6:34381400-34383800	Weak transcription	HUVEC	blood vessel
47	chr6:34381800-34382800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr6:34381800-34383600	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr6:34381800-34383600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr6:34381800-34383600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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