Variant report

Variant	rs555491908
Chromosome Location	chr1:161375416-161375417
allele	C/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:1)
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	chr1:161375390-161375440	HEEpiC	esophagus:	n/a
2	chr1:161375390-161375440	AG04449	skin:	fetal
3	chr1:161375390-161375440	HEK293	kidney:	embryo
4	chr1:161375390-161375440	HRPEpiC	eye:	n/a
5	chr1:161375390-161375440	SK-N-SH_RA	brain:	n/a
6	chr1:161375390-161375440	HepG2	liver:	n/a
7	chr1:161375390-161375440	PANC-1	pancreas:	n/a
8	chr1:161375390-161375440	AG10803	skin:	n/a
9	chr1:161375390-161375440	GM12878	blood:	n/a
10	chr1:161375390-161375440	HIPEpiC	eye:	n/a
11	chr1:161375390-161375440	HPAEpiC	pulmonary alveolar:	n/a
12	chr1:161375390-161375440	GM19239	blood:	n/a
13	chr1:161375390-161375440	ProgFib	skin:	n/a
14	chr1:161375390-161375440	AG09309	skin:	n/a
15	chr1:161375390-161375440	NB4	blood:	n/a
16	chr1:161375390-161375440	SAEC	small airway:	n/a
17	chr1:161375390-161375440	NH-A	brain:	n/a
18	chr1:161375390-161375440	HCM	heart:	n/a
19	chr1:161375390-161375440	Hela-S3	cervix:	n/a
20	chr1:161375390-161375440	MCF10A-Er-Src	breast:	n/a
21	chr1:161375390-161375440	AG04450	lung:	fetal
22	chr1:161375390-161375440	HNPCEpiC	eye:	n/a
23	chr1:161375390-161375440	CMK	blood:	n/a
24	chr1:161375390-161375440	HRCEpiC	kidney:	n/a
25	chr1:161375390-161375440	NT2-D1	testis:	n/a
26	chr1:161375390-161375440	A549	lung:	n/a
27	chr1:161375390-161375440	Jurkat	blood:	n/a
28	chr1:161375390-161375440	NHDF-neo	bronchial:	n/a
29	chr1:161375390-161375440	HCF	heart:	n/a
30	chr1:161375390-161375440	HUVEC	blood vessel:	n/a
31	chr1:161375390-161375440	HCT-116	colon:	n/a
32	chr1:161375390-161375440	K562	blood:	n/a
33	chr1:161375390-161375440	U87	brain:	n/a
34	chr1:161375390-161375440	BJ	skin:	n/a
35	chr1:161375390-161375440	GM12891	blood:	n/a
36	chr1:161375390-161375440	IMR90	lung:	fetal
37	chr1:161375390-161375440	SK-N-MC	brain:	n/a
38	chr1:161375390-161375440	AG09319	gingival:	n/a
39	chr1:161375390-161375440	NHBE	bronchial:	n/a
40	chr1:161375390-161375440	PrEC	prostate:	n/a
41	chr1:161375390-161375440	HL-60	blood:	n/a
42	chr1:161375390-161375440	HRE	kidney:	n/a
43	chr1:161375390-161375440	HCPEpiC	choroid plexus:	n/a
44	chr1:161375390-161375440	Hepatocyte	liver:	n/a
45	chr1:161375390-161375440	AoSMC	blood vessel:	n/a
46	chr1:161375390-161375440	LNCaP	prostate:	n/a
47	chr1:161375390-161375440	ECC-1	luminal epithelium:	n/a
48	chr1:161375390-161375440	ovcar-3	ovarian:	n/a
49	chr1:161375390-161375440	SK-N-SH	brain:	n/a
50	chr1:161375390-161375440	Caco-2	colon:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:161367523..161369303-chr1:161373719..161375547,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000215840	CpG island

Extended variants
information (count: 16 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432986	chr1:161221133-161673682	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv1010776	chr1:161282384-161409218	Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
3	nsv432998	chr1:161335902-161673682	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
4	nsv872493	chr1:161339060-161413794	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
5	nsv433009	chr1:161343927-161639328	Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
6	nsv1005812	chr1:161343951-161548101	Weak transcription Bivalent Enhancer Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
7	nsv535182	chr1:161343951-161548101	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
8	esv2756866	chr1:161344255-161681552	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
9	esv2758972	chr1:161344255-161681552	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
10	nsv998957	chr1:161353351-161398414	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
11	nsv433020	chr1:161355634-161673682	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	60 gene(s)	inside rSNPs	diseases
12	esv2754329	chr1:161355728-161673682	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	60 gene(s)	inside rSNPs	diseases
13	nsv433031	chr1:161355728-161673682	Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	60 gene(s)	inside rSNPs	diseases
14	nsv433042	chr1:161372038-161673682	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
15	nsv946461	chr1:161372505-161384947	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
16	esv3350498	chr1:161374323-161380643	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161370400-161379200	Weak transcription	Stomach Mucosa	stomach
2	chr1:161370400-161380000	Weak transcription	Gastric	stomach
3	chr1:161370600-161378600	Weak transcription	Fetal Heart	heart
4	chr1:161370600-161381800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr1:161370800-161379200	Weak transcription	Colonic Mucosa	Colon
6	chr1:161371000-161378800	Weak transcription	Duodenum Mucosa	Duodenum
7	chr1:161371000-161378800	Weak transcription	Fetal Intestine Small	intestine
8	chr1:161371000-161379000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr1:161371000-161379000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr1:161371000-161379000	Weak transcription	Right Atrium	heart
11	chr1:161371000-161379400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr1:161371000-161381400	Weak transcription	Esophagus	oesophagus
13	chr1:161371000-161387800	Weak transcription	Spleen	Spleen
14	chr1:161371200-161378800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr1:161371200-161379000	Weak transcription	Psoas Muscle	Psoas
16	chr1:161371400-161378400	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr1:161371400-161379000	Weak transcription	Primary B cells from peripheral blood	blood
18	chr1:161371600-161379000	Weak transcription	Right Ventricle	heart
19	chr1:161372200-161379800	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr1:161372800-161377400	Weak transcription	Fetal Intestine Large	intestine
21	chr1:161374000-161377600	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr1:161374000-161379000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr1:161374200-161378800	Weak transcription	Left Ventricle	heart
24	chr1:161374200-161380000	Weak transcription	Small Intestine	intestine
25	chr1:161374600-161377200	Weak transcription	K562	blood
26	chr1:161374600-161378600	Weak transcription	HepG2	liver
27	chr1:161374800-161379800	Weak transcription	Fetal Lung	lung
28	chr1:161374800-161380000	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr1:161375000-161377400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr1:161375400-161375600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr1:161375400-161375600	Enhancers	Ovary	ovary
32	chr1:161375400-161376800	Enhancers	Pancreas	Pancrea

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