Variant report

Variant	rs11584714
Chromosome Location	chr1:161338761-161338762
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:122)
Chromatin interactive
region (count:3)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:161338742-161338792	GM19239	blood:	n/a
2	chr1:161338748-161338798	AG04450	lung:	fetal
3	chr1:161338742-161338792	NHBE	bronchial:	n/a
4	chr1:161338748-161338798	AG09309	skin:	n/a
5	chr1:161338748-161338798	K562	blood:	n/a
6	chr1:161338748-161338798	AG10803	skin:	n/a
7	chr1:161338742-161338792	HIPEpiC	eye:	n/a
8	chr1:161338748-161338798	Caco-2	colon:	n/a
9	chr1:161338742-161338792	ProgFib	skin:	n/a
10	chr1:161338742-161338792	LNCaP	prostate:	n/a
11	chr1:161338742-161338792	T-47D	breast:	n/a
12	chr1:161338742-161338792	HCT-116	colon:	n/a
13	chr1:161338748-161338798	HEEpiC	esophagus:	n/a
14	chr1:161338742-161338792	PANC-1	pancreas:	n/a
15	chr1:161338742-161338792	BJ	skin:	n/a
16	chr1:161338742-161338792	HepG2	liver:	n/a
17	chr1:161338748-161338798	HIPEpiC	eye:	n/a
18	chr1:161338748-161338798	GM12892	blood:	n/a
19	chr1:161338748-161338798	HCPEpiC	choroid plexus:	n/a
20	chr1:161338742-161338792	U87	brain:	n/a
21	chr1:161338742-161338792	HL-60	blood:	n/a
22	chr1:161338742-161338792	HPAEpiC	pulmonary alveolar:	n/a
23	chr1:161338748-161338798	H1-hESC	embryonic stem cell:	embryo
24	chr1:161338748-161338798	SK-N-SH	brain:	n/a
25	chr1:161338742-161338792	GM12892	blood:	n/a
26	chr1:161338748-161338798	BJ	skin:	n/a
27	chr1:161338748-161338798	ovcar-3	ovarian:	n/a
28	chr1:161338748-161338798	GM12891	blood:	n/a
29	chr1:161338748-161338798	HL-60	blood:	n/a
30	chr1:161338748-161338798	BE2_C	brain:	n/a
31	chr1:161338748-161338798	HAEpiC	amniotic membrane:	n/a
32	chr1:161338748-161338798	GM06990	blood:	n/a
33	chr1:161338748-161338798	HCT-116	colon:	n/a
34	chr1:161338748-161338798	NB4	blood:	n/a
35	chr1:161338748-161338798	HRPEpiC	eye:	n/a
36	chr1:161338742-161338792	SKMC	muscle:	n/a
37	chr1:161338742-161338792	IMR90	lung:	fetal
38	chr1:161338748-161338798	CMK	blood:	n/a
39	chr1:161338742-161338792	A549	lung:	n/a
40	chr1:161338748-161338798	A549	lung:	n/a
41	chr1:161338742-161338792	H1-hESC	embryonic stem cell:	embryo
42	chr1:161338742-161338792	MCF10A-Er-Src	breast:	n/a
43	chr1:161338748-161338798	GM19239	blood:	n/a
44	chr1:161338748-161338798	AG09319	gingival:	n/a
45	chr1:161338748-161338798	HUVEC	blood vessel:	n/a
46	chr1:161338748-161338798	Hepatocyte	liver:	n/a
47	chr1:161338748-161338798	AG04449	skin:	fetal
48	chr1:161338742-161338792	HCF	heart:	n/a
49	chr1:161338748-161338798	HNPCEpiC	eye:	n/a
50	chr1:161338742-161338792	HCPEpiC	choroid plexus:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr1:161282416..161286426-chr1:161334773..161339073,4	K562	blood:
2	chr1:161282812..161285638-chr1:161335844..161339793,4	MCF-7	breast:
3	chr1:161199382..161202351-chr1:161336794..161339245,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SDHC-1	chr1:161337812-161338955	XLOC_000441
2	lnc-SDHC-1	chr1:161337812-161338949	ENSG00000235477.2

No data

Variant related genes	Relation type
C1orf192	CpG island
ENSG00000143257	Chromatin interaction
ENSG00000143252	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11577663	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11578160	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11579939	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11580931	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11583870	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11585941	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs16832847	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs16832849	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16832911	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16832913	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16832945	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4272646	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4656296	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55857747	0.82[EUR][1000 genomes]
rs6427589	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72714971	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs72714973	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72714981	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72714982	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72714983	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72714985	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72715002	0.86[AMR][1000 genomes]
rs7519821	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7538701	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9793329	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161304600-161342600	Weak transcription	Esophagus	oesophagus
2	chr1:161312600-161341200	Weak transcription	HMEC	breast
3	chr1:161313000-161341000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr1:161313000-161341200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:161321800-161348800	Weak transcription	Gastric	stomach
6	chr1:161327200-161339200	Weak transcription	NHLF	lung
7	chr1:161327400-161352600	Weak transcription	Lung	lung
8	chr1:161328400-161359000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr1:161328600-161359000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr1:161334000-161342000	Weak transcription	Aorta	Aorta
11	chr1:161335000-161356000	Weak transcription	K562	blood
12	chr1:161336400-161339600	Weak transcription	Adipose Nuclei	Adipose
13	chr1:161336400-161339800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr1:161336400-161341600	Weak transcription	Primary T cells from cord blood	blood
15	chr1:161336400-161342600	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr1:161336400-161348800	Weak transcription	Placenta	Placenta
17	chr1:161336600-161340200	Weak transcription	Hela-S3	cervix
18	chr1:161336600-161351600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr1:161336600-161352200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr1:161336600-161352200	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr1:161336800-161338800	Weak transcription	Fetal Stomach	stomach
22	chr1:161336800-161339000	Weak transcription	HSMM	muscle
23	chr1:161336800-161339200	Weak transcription	Fetal Muscle Trunk	muscle
24	chr1:161336800-161339800	Weak transcription	Duodenum Mucosa	Duodenum
25	chr1:161336800-161340200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr1:161336800-161340400	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr1:161336800-161341600	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr1:161336800-161344600	Weak transcription	Stomach Smooth Muscle	stomach
29	chr1:161336800-161348600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr1:161336800-161348800	Weak transcription	Fetal Muscle Leg	muscle
31	chr1:161336800-161348800	Weak transcription	Fetal Thymus	thymus
32	chr1:161336800-161351600	Weak transcription	NHEK	skin
33	chr1:161337200-161341600	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr1:161337800-161348800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr1:161337800-161356200	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr1:161338000-161343400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr1:161338000-161346000	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr1:161338000-161351600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr1:161338000-161356000	Weak transcription	GM12878-XiMat	blood
40	chr1:161338200-161340000	Weak transcription	Dnd41	blood
41	chr1:161338200-161340200	Weak transcription	Osteobl	bone
42	chr1:161338200-161342000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr1:161338200-161344000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr1:161338200-161348600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr1:161338600-161346800	Weak transcription	HepG2	liver

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