Variant report

Variant	rs3734280
Chromosome Location	chr6:134215690-134215691
allele	A/G
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	chr6:134215661-134215711	SK-N-SH	brain:	n/a
2	chr6:134215661-134215711	Jurkat	blood:	n/a
3	chr6:134215661-134215711	PrEC	prostate:	n/a
4	chr6:134215661-134215711	HCT-116	colon:	n/a
5	chr6:134215661-134215711	A549	lung:	n/a
6	chr6:134215661-134215711	HepG2	liver:	n/a
7	chr6:134215661-134215711	HCPEpiC	choroid plexus:	n/a
8	chr6:134215661-134215711	NH-A	brain:	n/a
9	chr6:134215661-134215711	NHBE	bronchial:	n/a
10	chr6:134215661-134215711	HCM	heart:	n/a
11	chr6:134215661-134215711	RPTEC	kidney:	n/a
12	chr6:134215661-134215711	PANC-1	pancreas:	n/a
13	chr6:134215661-134215711	H1-hESC	embryonic stem cell:	embryo
14	chr6:134215661-134215711	ProgFib	skin:	n/a
15	chr6:134215661-134215711	HRPEpiC	eye:	n/a
16	chr6:134215661-134215711	HUVEC	blood vessel:	n/a
17	chr6:134215661-134215711	AG04450	lung:	fetal
18	chr6:134215661-134215711	Hela-S3	cervix:	n/a
19	chr6:134215661-134215711	BJ	skin:	n/a
20	chr6:134215661-134215711	HPAEpiC	pulmonary alveolar:	n/a
21	chr6:134215661-134215711	HIPEpiC	eye:	n/a
22	chr6:134215661-134215711	T-47D	breast:	n/a
23	chr6:134215661-134215711	SK-N-MC	brain:	n/a
24	chr6:134215661-134215711	HL-60	blood:	n/a
25	chr6:134215661-134215711	AG04449	skin:	fetal
26	chr6:134215661-134215711	HMEC	breast:	n/a
27	chr6:134215661-134215711	AoSMC	blood vessel:	n/a
28	chr6:134215661-134215711	HCF	heart:	n/a
29	chr6:134215661-134215711	HRCEpiC	kidney:	n/a
30	chr6:134215661-134215711	ovcar-3	ovarian:	n/a
31	chr6:134215661-134215711	GM12891	blood:	n/a
32	chr6:134215661-134215711	SAEC	small airway:	n/a
33	chr6:134215661-134215711	AG09319	gingival:	n/a
34	chr6:134215661-134215711	PFSK-1	brain:	n/a
35	chr6:134215661-134215711	CMK	blood:	n/a
36	chr6:134215661-134215711	LNCaP	prostate:	n/a
37	chr6:134215661-134215711	ECC-1	luminal epithelium:	n/a
38	chr6:134215661-134215711	HEEpiC	esophagus:	n/a
39	chr6:134215661-134215711	NT2-D1	testis:	n/a
40	chr6:134215661-134215711	MCF-7	breast:	n/a
41	chr6:134215661-134215711	HRE	kidney:	n/a
42	chr6:134215661-134215711	SK-N-SH_RA	brain:	n/a
43	chr6:134215661-134215711	IMR90	lung:	fetal
44	chr6:134215661-134215711	SKMC	muscle:	n/a
45	chr6:134215661-134215711	K562	blood:	n/a
46	chr6:134215661-134215711	GM19239	blood:	n/a
47	chr6:134215661-134215711	AG10803	skin:	n/a
48	chr6:134215661-134215711	NHDF-neo	bronchial:	n/a
49	chr6:134215661-134215711	NB4	blood:	n/a
50	chr6:134215661-134215711	U87	brain:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr6:134201468..134203267-chr6:134213845..134216658,2	K562	blood:
2	chr6:134211420..134213242-chr6:134215520..134217754,3	K562	blood:
3	chr6:134214451..134216524-chr6:134225200..134227835,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000227954	CpG island
ENSG00000227954	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs55896993	0.87[EUR][1000 genomes]
rs73774162	0.87[EUR][1000 genomes]
rs9493753	0.94[ASN][1000 genomes]
rs9493762	0.87[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34122	chr6:134089019-134378252	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:134212800-134217000	Active TSS	Right Atrium	heart
2	chr6:134213200-134215800	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
3	chr6:134213200-134216200	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr6:134213600-134216600	Transcr. at gene 5' and 3'	Fetal Stomach	stomach
5	chr6:134214000-134215800	Transcr. at gene 5' and 3'	NHLF	lung
6	chr6:134214400-134217600	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
7	chr6:134214600-134216800	Weak transcription	Right Ventricle	heart
8	chr6:134214600-134217200	Weak transcription	Gastric	stomach
9	chr6:134214600-134217400	Flanking Bivalent TSS/Enh	Fetal Lung	lung
10	chr6:134214800-134216800	Weak transcription	Pancreas	Pancrea
11	chr6:134214800-134217400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr6:134215200-134216000	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
13	chr6:134215400-134215800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr6:134215400-134215800	Bivalent Enhancer	Colonic Mucosa	Colon
15	chr6:134215400-134215800	Bivalent Enhancer	Lung	lung
16	chr6:134215400-134215800	Transcr. at gene 5' and 3'	Ovary	ovary
17	chr6:134215400-134215800	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 31	rectum
18	chr6:134215400-134216000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
19	chr6:134215400-134216000	Bivalent Enhancer	Left Ventricle	heart
20	chr6:134215400-134216000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
21	chr6:134215400-134217600	Bivalent Enhancer	Stomach Mucosa	stomach
22	chr6:134215600-134215800	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr6:134215600-134215800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr6:134215600-134215800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
25	chr6:134215600-134215800	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr6:134215600-134215800	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr6:134215600-134215800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr6:134215600-134215800	Bivalent Enhancer	Duodenum Mucosa	Duodenum
29	chr6:134215600-134215800	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
30	chr6:134215600-134215800	Flanking Bivalent TSS/Enh	Fetal Kidney	kidney
31	chr6:134215600-134215800	Bivalent Enhancer	Psoas Muscle	Psoas
32	chr6:134215600-134216000	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
33	chr6:134215600-134216000	Bivalent Enhancer	Placenta	Placenta
34	chr6:134215600-134216400	Bivalent Enhancer	Colon Smooth Muscle	Colon
35	chr6:134215600-134216800	Enhancers	A549	lung

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