Variant report

Variant	rs17200969
Chromosome Location	chr6:31674944-31674945
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:31674897-31674947	LNCaP	prostate:	n/a
2	chr6:31674897-31674947	AG09309	skin:	n/a
3	chr6:31674897-31674947	NT2-D1	testis:	n/a
4	chr6:31674897-31674947	BJ	skin:	n/a
5	chr6:31674897-31674947	AG04449	skin:	fetal
6	chr6:31674897-31674947	RPTEC	kidney:	n/a
7	chr6:31674897-31674947	MCF-7	breast:	n/a
8	chr6:31674897-31674947	PANC-1	pancreas:	n/a
9	chr6:31674897-31674947	HEK293	kidney:	embryo
10	chr6:31674897-31674947	K562	blood:	n/a
11	chr6:31674897-31674947	HL-60	blood:	n/a
12	chr6:31674897-31674947	PrEC	prostate:	n/a
13	chr6:31674897-31674947	HepG2	liver:	n/a
14	chr6:31674897-31674947	HCM	heart:	n/a
15	chr6:31674897-31674947	CMK	blood:	n/a
16	chr6:31674897-31674947	NHDF-neo	bronchial:	n/a
17	chr6:31674897-31674947	U87	brain:	n/a
18	chr6:31674897-31674947	HRCEpiC	kidney:	n/a
19	chr6:31674897-31674947	Caco-2	colon:	n/a
20	chr6:31674897-31674947	ECC-1	luminal epithelium:	n/a
21	chr6:31674897-31674947	SK-N-SH_RA	brain:	n/a
22	chr6:31674897-31674947	AG10803	skin:	n/a
23	chr6:31674897-31674947	ovcar-3	ovarian:	n/a
24	chr6:31674897-31674947	GM12878	blood:	n/a
25	chr6:31674897-31674947	HMEC	breast:	n/a
26	chr6:31674897-31674947	SKMC	muscle:	n/a
27	chr6:31674897-31674947	HCF	heart:	n/a
28	chr6:31674897-31674947	HRE	kidney:	n/a
29	chr6:31674897-31674947	A549	lung:	n/a
30	chr6:31674897-31674947	SK-N-SH	brain:	n/a
31	chr6:31674897-31674947	HCT-116	colon:	n/a
32	chr6:31674897-31674947	NB4	blood:	n/a
33	chr6:31674897-31674947	H1-hESC	embryonic stem cell:	embryo
34	chr6:31674897-31674947	HPAEpiC	pulmonary alveolar:	n/a
35	chr6:31674897-31674947	HUVEC	blood vessel:	n/a
36	chr6:31674897-31674947	IMR90	lung:	fetal
37	chr6:31674897-31674947	MCF10A-Er-Src	breast:	n/a
38	chr6:31674897-31674947	Jurkat	blood:	n/a
39	chr6:31674897-31674947	AG04450	lung:	fetal
40	chr6:31674897-31674947	GM12891	blood:	n/a
41	chr6:31674897-31674947	HAEpiC	amniotic membrane:	n/a
42	chr6:31674897-31674947	SK-N-MC	brain:	n/a
43	chr6:31674897-31674947	HCPEpiC	choroid plexus:	n/a
44	chr6:31674897-31674947	BE2_C	brain:	n/a
45	chr6:31674897-31674947	ProgFib	skin:	n/a
46	chr6:31674897-31674947	PFSK-1	brain:	n/a
47	chr6:31674897-31674947	NH-A	brain:	n/a
48	chr6:31674897-31674947	AG09319	gingival:	n/a
49	chr6:31674897-31674947	GM06990	blood:	n/a
50	chr6:31674897-31674947	Hepatocyte	liver:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:31670092..31672612-chr6:31673988..31675755,2	MCF-7	breast:
2	chr6:31654755..31657598-chr6:31674069..31676808,2	MCF-7	breast:
3	chr6:31673712..31675665-chr6:31703178..31704739,2	MCF-7	breast:

No data

Variant related genes	Relation type
ABHD16A	CpG island
ENSG00000204427	Chromatin interaction
ENSG00000213719	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1062309	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2257331	0.83[ASN][1000 genomes]
rs2844451	0.83[ASN][1000 genomes]
rs34431565	0.85[AMR][1000 genomes]
rs544167	0.83[ASN][1000 genomes]
rs62395789	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62395791	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62395804	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62395814	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62395823	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62395833	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62395847	1.00[ASN][1000 genomes]
rs62395848	1.00[ASN][1000 genomes]
rs62395849	1.00[ASN][1000 genomes]
rs62395855	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv601609	chr6:31280101-31799786	Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Genic enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	332 gene(s)	inside rSNPs	diseases
2	nsv601610	chr6:31280101-31960770	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	370 gene(s)	inside rSNPs	diseases
3	nsv601628	chr6:31280327-31990098	Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	376 gene(s)	inside rSNPs	diseases
4	nsv601629	chr6:31280327-31996185	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	376 gene(s)	inside rSNPs	diseases
5	nsv601630	chr6:31280327-32011317	Genic enhancers Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer 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	378 gene(s)	inside rSNPs	diseases
6	nsv601631	chr6:31280327-32017540	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	378 gene(s)	inside rSNPs	diseases
7	nsv1023939	chr6:31325961-32026747	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	372 gene(s)	inside rSNPs	diseases
8	nsv538188	chr6:31325961-32026747	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	372 gene(s)	inside rSNPs	diseases
9	nsv432868	chr6:31338844-31721033	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	250 gene(s)	inside rSNPs	diseases
10	nsv1021747	chr6:31386219-31907266	Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	330 gene(s)	inside rSNPs	diseases
11	nsv884418	chr6:31525448-31741078	Active TSS Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	206 gene(s)	inside rSNPs	diseases
12	nsv1033154	chr6:31550614-32009410	Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	326 gene(s)	inside rSNPs	diseases
13	nsv1017945	chr6:31609641-32481240	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
14	esv3428142	chr6:31615800-31881809	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer 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	257 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:31671600-31681600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr6:31671800-31678600	Weak transcription	Fetal Brain Female	brain
3	chr6:31671800-31678600	Weak transcription	Fetal Intestine Small	intestine
4	chr6:31671800-31695800	Weak transcription	Right Atrium	heart
5	chr6:31672000-31675000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr6:31672000-31675200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr6:31672000-31677800	Weak transcription	Spleen	Spleen
8	chr6:31672000-31678000	Weak transcription	NHEK	skin
9	chr6:31672000-31679000	Weak transcription	Esophagus	oesophagus
10	chr6:31672000-31682800	Weak transcription	Rectal Smooth Muscle	rectum
11	chr6:31672000-31685400	Weak transcription	Gastric	stomach
12	chr6:31672200-31678400	Weak transcription	Thymus	Thymus
13	chr6:31674600-31675200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr6:31674600-31675800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr6:31674800-31675400	Enhancers	K562	blood
16	chr6:31674800-31676800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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