Variant report

Variant	rs2281817
Chromosome Location	chr6:33771968-33771969
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:33769845-33773080	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:33771931-33771981	AG09319	gingival:	n/a
2	chr6:33771931-33771981	HRCEpiC	kidney:	n/a
3	chr6:33771931-33771981	SKMC	muscle:	n/a
4	chr6:33771931-33771981	HPAEpiC	pulmonary alveolar:	n/a
5	chr6:33771931-33771981	GM12892	blood:	n/a
6	chr6:33771931-33771981	AoSMC	blood vessel:	n/a
7	chr6:33771931-33771981	LNCaP	prostate:	n/a
8	chr6:33771931-33771981	HEEpiC	esophagus:	n/a
9	chr6:33771931-33771981	AG04450	lung:	fetal
10	chr6:33771931-33771981	HL-60	blood:	n/a
11	chr6:33771931-33771981	GM12878	blood:	n/a
12	chr6:33771931-33771981	A549	lung:	n/a
13	chr6:33771931-33771981	NT2-D1	testis:	n/a
14	chr6:33771931-33771981	NH-A	brain:	n/a
15	chr6:33771931-33771981	Caco-2	colon:	n/a
16	chr6:33771931-33771981	GM19239	blood:	n/a
17	chr6:33771931-33771981	HCPEpiC	choroid plexus:	n/a
18	chr6:33771931-33771981	RPTEC	kidney:	n/a
19	chr6:33771931-33771981	SK-N-SH_RA	brain:	n/a
20	chr6:33771931-33771981	ovcar-3	ovarian:	n/a
21	chr6:33771931-33771981	GM12891	blood:	n/a
22	chr6:33771931-33771981	SK-N-SH	brain:	n/a
23	chr6:33771931-33771981	Jurkat	blood:	n/a
24	chr6:33771931-33771981	H1-hESC	embryonic stem cell:	embryo
25	chr6:33771931-33771981	AG10803	skin:	n/a
26	chr6:33771931-33771981	PrEC	prostate:	n/a
27	chr6:33771931-33771981	HCT-116	colon:	n/a
28	chr6:33771931-33771981	HCF	heart:	n/a
29	chr6:33771931-33771981	NB4	blood:	n/a
30	chr6:33771931-33771981	NHBE	bronchial:	n/a
31	chr6:33771931-33771981	HIPEpiC	eye:	n/a
32	chr6:33771931-33771981	U87	brain:	n/a
33	chr6:33771931-33771981	MCF-7	breast:	n/a
34	chr6:33771931-33771981	ProgFib	skin:	n/a
35	chr6:33771931-33771981	AG09309	skin:	n/a
36	chr6:33771931-33771981	HUVEC	blood vessel:	n/a
37	chr6:33771931-33771981	T-47D	breast:	n/a
38	chr6:33771931-33771981	CMK	blood:	n/a
39	chr6:33771931-33771981	AG04449	skin:	fetal
40	chr6:33771931-33771981	HNPCEpiC	eye:	n/a
41	chr6:33771931-33771981	HMEC	breast:	n/a
42	chr6:33771931-33771981	IMR90	lung:	fetal
43	chr6:33771931-33771981	HepG2	liver:	n/a
44	chr6:33771931-33771981	SAEC	small airway:	n/a
45	chr6:33771931-33771981	HCM	heart:	n/a
46	chr6:33771931-33771981	PFSK-1	brain:	n/a
47	chr6:33771931-33771981	Hepatocyte	liver:	n/a
48	chr6:33771931-33771981	HEK293	kidney:	embryo
49	chr6:33771931-33771981	Hela-S3	cervix:	n/a
50	chr6:33771931-33771981	ECC-1	luminal epithelium:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:33771896..33773520-chr6:33777733..33780554,2	MCF-7	breast:

No data

Variant related genes	Relation type
MLN	TF binding region
MLN	CpG island

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10947440	0.83[JPT][hapmap]
rs2281818	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2477223	1.00[MEX][hapmap]
rs3763261	1.00[CHB][hapmap];0.92[JPT][hapmap];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3828784	0.96[ASN][1000 genomes]
rs57663844	0.81[AFR][1000 genomes]
rs59298999	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60110107	0.96[ASN][1000 genomes]
rs60640960	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7752152	1.00[MEX][hapmap]
rs9469591	0.83[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv462897	chr6:33717770-33778964	Genic enhancers Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS 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 lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv602839	chr6:33717770-33778964	Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33757600-33775800	Weak transcription	Right Atrium	heart
2	chr6:33766000-33776000	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr6:33766800-33776400	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr6:33768800-33772400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:33769000-33772200	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr6:33769200-33773200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr6:33770000-33773000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr6:33770400-33776000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr6:33770600-33776200	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr6:33770800-33772200	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr6:33770800-33774400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr6:33771000-33776200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr6:33771400-33772400	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr6:33771400-33773200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr6:33771400-33777000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr6:33771600-33772400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr6:33771600-33772800	Enhancers	Fetal Intestine Large	intestine
18	chr6:33771600-33772800	Enhancers	Fetal Intestine Small	intestine
19	chr6:33771600-33774800	Weak transcription	Brain Germinal Matrix	brain

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