Variant report

Variant	rs57839584
Chromosome Location	chr6:30613534-30613535
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:61)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:30612895-30618163	HepG2	liver:	n/a	n/a
2	POLR2A	chr6:30613479-30615849	PANC-1	pancreas:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:30613506-30613556	HAEpiC	amniotic membrane:	n/a
2	chr6:30613506-30613556	Hepatocyte	liver:	n/a
3	chr6:30613506-30613556	RPTEC	kidney:	n/a
4	chr6:30613506-30613556	MCF-7	breast:	n/a
5	chr6:30613506-30613556	Hela-S3	cervix:	n/a
6	chr6:30613506-30613556	AG09309	skin:	n/a
7	chr6:30613506-30613556	Caco-2	colon:	n/a
8	chr6:30613506-30613556	Jurkat	blood:	n/a
9	chr6:30613506-30613556	IMR90	lung:	fetal
10	chr6:30613506-30613556	HEK293	kidney:	embryo
11	chr6:30613506-30613556	HRCEpiC	kidney:	n/a
12	chr6:30613506-30613556	NHBE	bronchial:	n/a
13	chr6:30613506-30613556	ProgFib	skin:	n/a
14	chr6:30613506-30613556	K562	blood:	n/a
15	chr6:30613506-30613556	SAEC	small airway:	n/a
16	chr6:30613506-30613556	MCF10A-Er-Src	breast:	n/a
17	chr6:30613506-30613556	GM12892	blood:	n/a
18	chr6:30613506-30613556	ovcar-3	ovarian:	n/a
19	chr6:30613506-30613556	HPAEpiC	pulmonary alveolar:	n/a
20	chr6:30613506-30613556	HCT-116	colon:	n/a
21	chr6:30613506-30613556	NT2-D1	testis:	n/a
22	chr6:30613506-30613556	AG10803	skin:	n/a
23	chr6:30613506-30613556	GM12878	blood:	n/a
24	chr6:30613506-30613556	GM06990	blood:	n/a
25	chr6:30613506-30613556	AoSMC	blood vessel:	n/a
26	chr6:30613506-30613556	SK-N-MC	brain:	n/a
27	chr6:30613506-30613556	BE2_C	brain:	n/a
28	chr6:30613506-30613556	HNPCEpiC	eye:	n/a
29	chr6:30613506-30613556	LNCaP	prostate:	n/a
30	chr6:30613506-30613556	HRPEpiC	eye:	n/a
31	chr6:30613506-30613556	SK-N-SH_RA	brain:	n/a
32	chr6:30613506-30613556	HL-60	blood:	n/a
33	chr6:30613506-30613556	CMK	blood:	n/a
34	chr6:30613506-30613556	H1-hESC	embryonic stem cell:	embryo
35	chr6:30613506-30613556	HepG2	liver:	n/a
36	chr6:30613506-30613556	HCPEpiC	choroid plexus:	n/a
37	chr6:30613506-30613556	AG04449	skin:	fetal
38	chr6:30613506-30613556	HCM	heart:	n/a
39	chr6:30613506-30613556	AG04450	lung:	fetal
40	chr6:30613506-30613556	BJ	skin:	n/a
41	chr6:30613506-30613556	HRE	kidney:	n/a
42	chr6:30613506-30613556	SK-N-SH	brain:	n/a
43	chr6:30613506-30613556	SKMC	muscle:	n/a
44	chr6:30613506-30613556	HUVEC	blood vessel:	n/a
45	chr6:30613506-30613556	NH-A	brain:	n/a
46	chr6:30613506-30613556	PFSK-1	brain:	n/a
47	chr6:30613506-30613556	A549	lung:	n/a
48	chr6:30613506-30613556	HMEC	breast:	n/a
49	chr6:30613506-30613556	HIPEpiC	eye:	n/a
50	chr6:30613506-30613556	GM12891	blood:	n/a

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:30601290..30603461-chr6:30612230..30614698,2	MCF-7	breast:
2	chr6:30613134..30616889-chr6:30684889..30690956,7	MCF-7	breast:
3	chr6:30582201..30587134-chr6:30612921..30616733,15	MCF-7	breast:
4	chr6:30598934..30603301-chr6:30608761..30613584,7	MCF-7	breast:
5	chr6:30580789..30587552-chr6:30608606..30620072,66	K562	blood:
6	chr6:30608315..30616989-chr6:30683761..30694958,31	K562	blood:
7	chr6:30457196..30459763-chr6:30612587..30614092,2	MCF-7	breast:
8	chr6:30609523..30619025-chr6:30620991..30630753,19	MCF-7	breast:
9	chr6:30592745..30596299-chr6:30612825..30617200,8	MCF-7	breast:
10	chr6:30521415..30525474-chr6:30613502..30616293,3	K562	blood:
11	chr6:30450665..30453098-chr6:30612269..30613984,2	MCF-7	breast:
12	chr6:30591157..30598732-chr6:30607879..30619621,21	K562	blood:
13	chr6:30612907..30616336-chr6:30637849..30642816,6	MCF-7	breast:
14	chr6:30611353..30613735-chr6:30773385..30775577,2	K562	blood:

No data

Variant related genes	Relation type
C6orf136	TF binding region
ENSG00000266183	TF binding region
C6orf136	CpG island
ENSG00000266183	CpG island
ENSG00000228415	Chromatin interaction
ENSG00000137337	Chromatin interaction
ENSG00000204592	Chromatin interaction
ENSG00000137343	Chromatin interaction
ENSG00000196230	Chromatin interaction
ENSG00000204560	Chromatin interaction
ENSG00000222894	Chromatin interaction
ENSG00000204576	Chromatin interaction
ENSG00000204590	Chromatin interaction
ENSG00000204568	Chromatin interaction
ENSG00000272540	Chromatin interaction
ENSG00000204569	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs58344693	1.00[EUR][1000 genomes]
rs59350392	1.00[EUR][1000 genomes]
rs9295927	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	nsv884092	chr6:30604955-30617767	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	26 gene(s)	inside rSNPs	diseases
9	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:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30593600-30613800	Weak transcription	Hela-S3	cervix
2	chr6:30595400-30614000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr6:30595400-30614800	Weak transcription	Small Intestine	intestine
4	chr6:30595600-30613800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr6:30595600-30614200	Strong transcription	Fetal Muscle Trunk	muscle
6	chr6:30595600-30614200	Strong transcription	Fetal Stomach	stomach
7	chr6:30595600-30614200	Weak transcription	Psoas Muscle	Psoas
8	chr6:30595600-30614400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr6:30595800-30613600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr6:30595800-30613600	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr6:30595800-30614000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr6:30595800-30614200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr6:30596000-30613800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr6:30596000-30613800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr6:30596000-30614000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr6:30596000-30614000	Strong transcription	Fetal Muscle Leg	muscle
17	chr6:30596000-30614200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr6:30596200-30613600	Weak transcription	Fetal Heart	heart
19	chr6:30596200-30613600	Weak transcription	HUVEC	blood vessel
20	chr6:30596200-30614200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr6:30596200-30614200	Strong transcription	Fetal Brain Female	brain
22	chr6:30601400-30614200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr6:30601800-30613800	Weak transcription	HMEC	breast
24	chr6:30601800-30614000	Weak transcription	Stomach Mucosa	stomach
25	chr6:30601800-30614200	Weak transcription	A549	lung
26	chr6:30602000-30614200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr6:30603400-30613800	Strong transcription	Placenta Amnion	Placenta Amnion
28	chr6:30603400-30614000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr6:30606400-30614000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr6:30606800-30613800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr6:30606800-30613800	Strong transcription	Cortex derived primary cultured neurospheres	brain
32	chr6:30607000-30613800	Strong transcription	Brain Hippocampus Middle	brain
33	chr6:30607000-30614000	Strong transcription	Stomach Smooth Muscle	stomach
34	chr6:30607200-30613600	Strong transcription	Brain Germinal Matrix	brain
35	chr6:30607600-30613600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr6:30607600-30613600	Strong transcription	Dnd41	blood
37	chr6:30607600-30613800	Strong transcription	HUES48 Cell Line	embryonic stem cell
38	chr6:30607600-30613800	Strong transcription	Rectal Mucosa Donor 29	rectum
39	chr6:30607600-30614200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr6:30607800-30614000	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr6:30608000-30614000	Strong transcription	HSMM	muscle
42	chr6:30608200-30613800	Strong transcription	NHLF	lung
43	chr6:30608200-30614000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr6:30608600-30613800	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr6:30608800-30613600	Weak transcription	GM12878-XiMat	blood
46	chr6:30609200-30614200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr6:30609400-30613600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr6:30609400-30613600	Weak transcription	K562	blood
49	chr6:30609400-30614200	Weak transcription	Rectal Smooth Muscle	rectum
50	chr6:30609600-30613600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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