Variant report

Variant	rs62397955
Chromosome Location	chr6:20210981-20210982
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr6:20210324-20211027	MCF-7	breast:	n/a	n/a
2	EP300	chr6:20210267-20211020	MCF-7	breast:	n/a	n/a
3	SIN3AK20	chr6:20210158-20211089	MCF-7	breast:	n/a	n/a
4	EP300	chr6:20210370-20211021	MCF-7	breast:	n/a	n/a
5	NR2F2	chr6:20210251-20210990	MCF-7	breast:	n/a	n/a
6	SIN3AK20	chr6:20210264-20211006	MCF-7	breast:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:52840503..52842605-chr6:20208710..20211532,2	MCF-7	breast:
2	chr6:20183085..20183879-chr6:20210423..20210990,2	MCF-7	breast:
3	chr6:20207945..20211455-chr6:26105249..26107952,3	MCF-7	breast:
4	chr6:20208250..20214334-chr6:20400294..20406447,14	K562	blood:
5	chr6:20126269..20128367-chr6:20209873..20212157,2	MCF-7	breast:
6	chr6:20201120..20201764-chr6:20210706..20211232,2	MCF-7	breast:
7	chr6:20209069..20211986-chr6:20231381..20233005,2	K562	blood:
8	chr6:20200700..20201255-chr6:20210255..20211078,3	MCF-7	breast:
9	chr2:25300005..25301584-chr6:20210003..20211589,2	MCF-7	breast:
10	chr6:17393765..17396443-chr6:20210532..20213161,2	MCF-7	breast:
11	chr6:20208632..20214725-chr6:20400593..20405219,15	K562	blood:
12	chr6:20208057..20215931-chr6:20401288..20405953,13	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000227803	TF binding region
ENSG00000112186	Chromatin interaction
ENSG00000112242	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs57108598	0.84[AFR][1000 genomes]
rs58985578	0.90[EUR][1000 genomes]
rs62397953	0.81[EUR][1000 genomes]
rs7758980	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029729	chr6:20113226-20235122	Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv538155	chr6:20113226-20235122	Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv1027355	chr6:20207893-20261048	Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:20202600-20211200	Enhancers	Stomach Mucosa	stomach
2	chr6:20203200-20211200	Weak transcription	Liver	Liver
3	chr6:20203200-20211200	Weak transcription	NHDF-Ad	bronchial
4	chr6:20204600-20211000	Weak transcription	HMEC	breast
5	chr6:20204600-20211200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr6:20204600-20211200	Weak transcription	A549	lung
7	chr6:20204800-20211200	Enhancers	Fetal Heart	heart
8	chr6:20205000-20211200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr6:20206400-20211200	Weak transcription	Fetal Muscle Leg	muscle
10	chr6:20206400-20211200	Weak transcription	Pancreas	Pancrea
11	chr6:20206600-20211200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr6:20206800-20211200	Weak transcription	Placenta	Placenta
13	chr6:20206800-20211400	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr6:20207200-20211200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr6:20207200-20211200	Weak transcription	Spleen	Spleen
16	chr6:20207400-20211200	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr6:20207600-20211000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr6:20207600-20211000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr6:20207600-20211000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr6:20207600-20211200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
21	chr6:20207600-20211400	Enhancers	Primary T helper cells fromperipheralblood	blood
22	chr6:20207800-20211000	Weak transcription	Primary B cells from cord blood	blood
23	chr6:20207800-20211000	Weak transcription	Primary T cells from cord blood	blood
24	chr6:20207800-20211200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr6:20207800-20211200	Enhancers	Primary neutrophils fromperipheralblood	blood
26	chr6:20207800-20211200	Weak transcription	Primary B cells from peripheral blood	blood
27	chr6:20207800-20211200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr6:20207800-20211200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr6:20207800-20211200	Weak transcription	Fetal Thymus	thymus
30	chr6:20208200-20211000	Weak transcription	Right Atrium	heart
31	chr6:20208800-20211200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
32	chr6:20208800-20211200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
33	chr6:20209000-20211200	Enhancers	Primary hematopoietic stem cells	blood
34	chr6:20209000-20211200	Enhancers	Sigmoid Colon	Sigmoid Colon
35	chr6:20209000-20211200	Enhancers	K562	blood
36	chr6:20209200-20211200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr6:20209400-20211000	Weak transcription	Fetal Lung	lung
38	chr6:20209600-20211000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr6:20209600-20211200	Enhancers	Primary hematopoietic stem cells short term culture	blood
40	chr6:20209800-20211200	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr6:20210000-20211000	Enhancers	H9 Cell Line	embryonic stem cell
42	chr6:20210000-20211000	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr6:20210000-20211000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr6:20210000-20211000	Enhancers	Gastric	stomach
45	chr6:20210000-20211000	Active TSS	Rectal Mucosa Donor 29	rectum
46	chr6:20210000-20211200	Enhancers	H1 Cell Line	embryonic stem cell
47	chr6:20210000-20211200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr6:20210000-20211200	Enhancers	Primary T cells fromperipheralblood	blood
49	chr6:20210000-20211200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
50	chr6:20210000-20211200	Enhancers	Adipose Nuclei	Adipose

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