Variant report

Variant	rs58716460
Chromosome Location	chr6:30617783-30617784
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:30617216-30617878	K562	blood:	n/a	n/a
2	POLR2A	chr6:30617293-30617803	MCF-7	breast:	n/a	n/a
3	POLR2A	chr6:30617138-30618316	SK-N-MC	brain:	n/a	n/a
4	POLR2A	chr6:30612895-30618163	HepG2	liver:	n/a	n/a
5	POLR2A	chr6:30617693-30617815	HepG2	liver:	n/a	n/a
6	POLR2A	chr6:30617203-30617785	K562	blood:	n/a	n/a
7	POLR2A	chr6:30617227-30618020	K562	blood:	n/a	n/a
8	POLR2A	chr6:30617222-30617920	K562	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:30617761-30617811	HCM	heart:	n/a
2	chr6:30617761-30617811	HRCEpiC	kidney:	n/a
3	chr6:30617761-30617811	MCF10A-Er-Src	breast:	n/a
4	chr6:30617761-30617811	Hela-S3	cervix:	n/a
5	chr6:30617761-30617811	CMK	blood:	n/a
6	chr6:30617761-30617811	RPTEC	kidney:	n/a
7	chr6:30617761-30617811	AoSMC	blood vessel:	n/a
8	chr6:30617761-30617811	U87	brain:	n/a
9	chr6:30617761-30617811	GM12892	blood:	n/a
10	chr6:30617761-30617811	AG09319	gingival:	n/a
11	chr6:30617761-30617811	PANC-1	pancreas:	n/a
12	chr6:30617761-30617811	PFSK-1	brain:	n/a
13	chr6:30617761-30617811	HPAEpiC	pulmonary alveolar:	n/a
14	chr6:30617761-30617811	LNCaP	prostate:	n/a
15	chr6:30617761-30617811	HCPEpiC	choroid plexus:	n/a
16	chr6:30617761-30617811	Hepatocyte	liver:	n/a
17	chr6:30617761-30617811	AG04449	skin:	fetal
18	chr6:30617761-30617811	AG10803	skin:	n/a
19	chr6:30617761-30617811	ovcar-3	ovarian:	n/a
20	chr6:30617761-30617811	A549	lung:	n/a
21	chr6:30617761-30617811	NHDF-neo	bronchial:	n/a
22	chr6:30617761-30617811	SKMC	muscle:	n/a
23	chr6:30617761-30617811	T-47D	breast:	n/a
24	chr6:30617761-30617811	HCF	heart:	n/a
25	chr6:30617761-30617811	HEK293	kidney:	embryo
26	chr6:30617761-30617811	AG04450	lung:	fetal
27	chr6:30617761-30617811	BE2_C	brain:	n/a
28	chr6:30617761-30617811	AG09309	skin:	n/a
29	chr6:30617761-30617811	Jurkat	blood:	n/a
30	chr6:30617761-30617811	ProgFib	skin:	n/a
31	chr6:30617761-30617811	HAEpiC	amniotic membrane:	n/a
32	chr6:30617761-30617811	K562	blood:	n/a
33	chr6:30617761-30617811	PrEC	prostate:	n/a
34	chr6:30617761-30617811	GM12878	blood:	n/a
35	chr6:30617761-30617811	HL-60	blood:	n/a
36	chr6:30617761-30617811	HRE	kidney:	n/a
37	chr6:30617761-30617811	NH-A	brain:	n/a
38	chr6:30617761-30617811	SK-N-MC	brain:	n/a
39	chr6:30617761-30617811	HRPEpiC	eye:	n/a
40	chr6:30617761-30617811	HUVEC	blood vessel:	n/a
41	chr6:30617761-30617811	GM19239	blood:	n/a
42	chr6:30617761-30617811	HCT-116	colon:	n/a
43	chr6:30617761-30617811	SAEC	small airway:	n/a
44	chr6:30617761-30617811	H1-hESC	embryonic stem cell:	embryo
45	chr6:30617761-30617811	IMR90	lung:	fetal
46	chr6:30617761-30617811	BJ	skin:	n/a
47	chr6:30617761-30617811	GM12891	blood:	n/a
48	chr6:30617761-30617811	NT2-D1	testis:	n/a
49	chr6:30617761-30617811	NB4	blood:	n/a
50	chr6:30617761-30617811	HepG2	liver:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:30580789..30587552-chr6:30608606..30620072,66	K562	blood:
2	chr6:30609523..30619025-chr6:30620991..30630753,19	MCF-7	breast:
3	chr6:30591157..30598732-chr6:30607879..30619621,21	K562	blood:
4	chr6:30583697..30586292-chr6:30616781..30618296,2	MCF-7	breast:

No data

Variant related genes	Relation type
C6orf136	TF binding region
C6orf136	CpG island
ENSG00000204568	Chromatin interaction
ENSG00000204569	Chromatin interaction
ENSG00000204560	Chromatin interaction
ENSG00000222894	Chromatin interaction
ENSG00000137343	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs4711223	0.86[ASN][1000 genomes]
rs4713351	1.00[ASN][1000 genomes]
rs57999057	0.92[AFR][1000 genomes]
rs61109058	1.00[AMR][1000 genomes]
rs61572689	1.00[ASN][1000 genomes]
rs6919835	0.84[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025667	chr6:30292845-30638066	Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent Enhancer 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	825 gene(s)	inside rSNPs	diseases
2	esv3519970	chr6:30382942-31378788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
3	esv3519971	chr6:30382942-31378788	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
4	nsv601481	chr6:30422632-31284253	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1012 gene(s)	inside rSNPs	diseases
5	esv3430377	chr6:30443802-30814426	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	967 gene(s)	inside rSNPs	diseases
6	nsv884086	chr6:30462084-30672757	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	798 gene(s)	inside rSNPs	diseases
7	nsv830626	chr6:30558064-30732905	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	406 gene(s)	inside rSNPs	diseases
8	nsv884093	chr6:30604955-30618906	Strong transcription Genic enhancers Enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30615800-30618800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:30615800-30619000	Weak transcription	Aorta	Aorta
3	chr6:30615800-30619000	Weak transcription	Spleen	Spleen
4	chr6:30615800-30619600	Weak transcription	Esophagus	oesophagus
5	chr6:30616000-30618800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr6:30616000-30618800	Weak transcription	Ovary	ovary
7	chr6:30616000-30618800	Weak transcription	Small Intestine	intestine
8	chr6:30616000-30627000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr6:30616200-30618000	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr6:30616200-30618600	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr6:30616200-30618600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr6:30616200-30618600	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr6:30616200-30618600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr6:30616200-30618600	Weak transcription	K562	blood
15	chr6:30616200-30618800	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr6:30616200-30618800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr6:30616200-30618800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr6:30616200-30618800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr6:30616200-30618800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr6:30616200-30618800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr6:30616200-30618800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr6:30616200-30618800	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr6:30616200-30618800	Weak transcription	Primary B cells from cord blood	blood
24	chr6:30616200-30618800	Weak transcription	Primary B cells from peripheral blood	blood
25	chr6:30616200-30618800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr6:30616200-30618800	Weak transcription	Adipose Nuclei	Adipose
27	chr6:30616200-30618800	Weak transcription	Brain Angular Gyrus	brain
28	chr6:30616200-30618800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr6:30616200-30618800	Weak transcription	Brain Substantia Nigra	brain
30	chr6:30616200-30618800	Weak transcription	HMEC	breast
31	chr6:30616200-30618800	Weak transcription	HSMMtube	muscle
32	chr6:30616200-30618800	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr6:30616200-30618800	Weak transcription	NH-A	brain
34	chr6:30616200-30618800	Weak transcription	NHEK	skin
35	chr6:30616200-30618800	Weak transcription	Osteobl	bone
36	chr6:30616200-30619000	Weak transcription	Stomach Mucosa	stomach
37	chr6:30616200-30619400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr6:30616200-30619400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr6:30616200-30619800	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr6:30616200-30620200	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr6:30616200-30620200	Weak transcription	HSMM	muscle
42	chr6:30616200-30620200	Weak transcription	NHLF	lung
43	chr6:30616200-30620600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr6:30616200-30620600	Weak transcription	GM12878-XiMat	blood
45	chr6:30616200-30621000	Weak transcription	HUVEC	blood vessel
46	chr6:30616200-30622000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr6:30616200-30622400	Weak transcription	NHDF-Ad	bronchial
48	chr6:30616200-30627600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
49	chr6:30616200-30627600	Weak transcription	Fetal Brain Male	brain
50	chr6:30616200-30630800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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