Variant report

Variant	rs62443357
Chromosome Location	chr6:86327171-86327172
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:86326265-86331930	K562	blood:	n/a	n/a
2	POLR2A	chr6:86326272-86328268	HepG2	liver:	n/a	n/a
3	POLR2A	chr6:86326940-86327195	K562	blood:	n/a	n/a
4	POLR2A	chr6:86326856-86327990	PFSK-1	brain:	n/a	n/a
5	POLR2A	chr6:86326952-86327338	PFSK-1	brain:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr6:86323280..86334231-chr6:86380512..86390230,24	K562	blood:
2	chr6:86322674..86325673-chr6:86325783..86329976,4	MCF-7	breast:
3	chr6:86325909..86328765-chr6:86352147..86353891,2	K562	blood:
4	chr6:86325909..86328953-chr6:86350748..86353891,4	K562	blood:
5	chr6:86325842..86327859-chr6:86341248..86343719,3	K562	blood:
6	chr6:86325042..86328665-chr6:86350611..86354171,5	MCF-7	breast:
7	chr6:86326728..86328514-chr6:86337033..86340056,3	MCF-7	breast:
8	chr6:86326511..86329111-chr6:86347081..86350058,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000271793	TF binding region
ENSG00000203875	Chromatin interaction
ENSG00000271793	Chromatin interaction
ENSG00000135316	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs62443304	1.00[ASN][1000 genomes]
rs62443330	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62443332	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62443351	1.00[ASN][1000 genomes]
rs62443354	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62443355	1.00[ASN][1000 genomes]
rs62443358	1.00[ASN][1000 genomes]
rs62444966	1.00[ASN][1000 genomes]
rs62444986	1.00[ASN][1000 genomes]
rs62444987	1.00[AFR][1000 genomes]
rs62444988	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022445	chr6:85972678-86392968	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
2	nsv538349	chr6:85972678-86392968	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
3	nsv886334	chr6:86214507-86394403	Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	124 gene(s)	inside rSNPs	diseases
4	esv1792638	chr6:86224053-86336300	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv5383	chr6:86303223-86348023	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:86304400-86329400	Weak transcription	Esophagus	oesophagus
2	chr6:86304600-86331400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr6:86305800-86336200	Weak transcription	Fetal Heart	heart
4	chr6:86307600-86331000	Strong transcription	HSMM	muscle
5	chr6:86312800-86329600	Weak transcription	Aorta	Aorta
6	chr6:86313400-86349000	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr6:86313600-86338400	Strong transcription	GM12878-XiMat	blood
8	chr6:86313800-86340200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr6:86314200-86338200	Strong transcription	Dnd41	blood
10	chr6:86314200-86341200	Strong transcription	HMEC	breast
11	chr6:86314600-86334600	Strong transcription	Primary T helper cells fromperipheralblood	blood
12	chr6:86314800-86348600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr6:86315000-86330000	Strong transcription	Osteobl	bone
14	chr6:86315000-86347800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr6:86315200-86338200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr6:86315400-86338200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr6:86315400-86338200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr6:86315400-86347400	Strong transcription	HUVEC	blood vessel
19	chr6:86315600-86330200	Strong transcription	NH-A	brain
20	chr6:86315600-86331000	Strong transcription	NHDF-Ad	bronchial
21	chr6:86315800-86330400	Strong transcription	Muscle Satellite Cultured Cells	--
22	chr6:86316000-86348600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr6:86316200-86339200	Strong transcription	Primary B cells from cord blood	blood
24	chr6:86316200-86347800	Strong transcription	Duodenum Mucosa	Duodenum
25	chr6:86316200-86348600	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr6:86316200-86348600	Strong transcription	Placenta	Placenta
27	chr6:86316200-86348800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr6:86316400-86348200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr6:86316400-86348400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
30	chr6:86316400-86349200	Strong transcription	HUES6 Cell Line	embryonic stem cell
31	chr6:86316400-86350600	Strong transcription	Fetal Thymus	thymus
32	chr6:86317000-86337400	Strong transcription	Primary T cells from cord blood	blood
33	chr6:86317000-86340400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr6:86317000-86349000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr6:86317400-86338800	Strong transcription	HUES64 Cell Line	embryonic stem cell
36	chr6:86317400-86349000	Strong transcription	HUES48 Cell Line	embryonic stem cell
37	chr6:86317600-86349800	Strong transcription	Rectal Mucosa Donor 31	rectum
38	chr6:86317800-86337600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
39	chr6:86317800-86348200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
40	chr6:86318600-86348800	Strong transcription	Primary B cells from peripheral blood	blood
41	chr6:86318800-86347200	Strong transcription	Fetal Brain Female	brain
42	chr6:86319000-86333800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr6:86319000-86350000	Strong transcription	Fetal Muscle Trunk	muscle
44	chr6:86319200-86330200	Strong transcription	NHLF	lung
45	chr6:86319200-86333600	Strong transcription	Adipose Nuclei	Adipose
46	chr6:86319400-86348600	Strong transcription	K562	blood
47	chr6:86319600-86342400	Strong transcription	Primary T cells fromperipheralblood	blood
48	chr6:86319600-86348200	Strong transcription	NHEK	skin
49	chr6:86319600-86348800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr6:86319600-86350000	Strong transcription	Rectal Mucosa Donor 29	rectum

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