Variant report

Variant	rs8010649
Chromosome Location	chr14:105830279-105830280
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:4)
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	MXI1	chr14:105830031-105831174	SK-N-SH	brain:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:105830248-105830298	HPAEpiC	pulmonary alveolar:	n/a
2	chr14:105830248-105830298	HCT-116	colon:	n/a
3	chr14:105830248-105830298	BJ	skin:	n/a
4	chr14:105830248-105830298	Caco-2	colon:	n/a
5	chr14:105830248-105830298	HRE	kidney:	n/a
6	chr14:105830248-105830298	AG09309	skin:	n/a
7	chr14:105830248-105830298	AG09319	gingival:	n/a
8	chr14:105830248-105830298	SKMC	muscle:	n/a
9	chr14:105830248-105830298	GM12892	blood:	n/a
10	chr14:105830248-105830298	Hepatocyte	liver:	n/a
11	chr14:105830248-105830298	HEEpiC	esophagus:	n/a
12	chr14:105830248-105830298	SK-N-MC	brain:	n/a
13	chr14:105830248-105830298	HL-60	blood:	n/a
14	chr14:105830248-105830298	HIPEpiC	eye:	n/a
15	chr14:105830248-105830298	H1-hESC	embryonic stem cell:	embryo
16	chr14:105830248-105830298	HAEpiC	amniotic membrane:	n/a
17	chr14:105830248-105830298	NB4	blood:	n/a
18	chr14:105830248-105830298	AG10803	skin:	n/a
19	chr14:105830248-105830298	GM12891	blood:	n/a
20	chr14:105830248-105830298	PrEC	prostate:	n/a
21	chr14:105830248-105830298	PANC-1	pancreas:	n/a
22	chr14:105830248-105830298	ovcar-3	ovarian:	n/a
23	chr14:105830248-105830298	Hela-S3	cervix:	n/a
24	chr14:105830248-105830298	HCM	heart:	n/a
25	chr14:105830248-105830298	GM19239	blood:	n/a
26	chr14:105830248-105830298	NHDF-neo	bronchial:	n/a
27	chr14:105830248-105830298	NT2-D1	testis:	n/a
28	chr14:105830248-105830298	HCPEpiC	choroid plexus:	n/a
29	chr14:105830248-105830298	GM06990	blood:	n/a
30	chr14:105830248-105830298	HCF	heart:	n/a
31	chr14:105830248-105830298	MCF10A-Er-Src	breast:	n/a
32	chr14:105830248-105830298	NHBE	bronchial:	n/a
33	chr14:105830248-105830298	A549	lung:	n/a
34	chr14:105830248-105830298	HMEC	breast:	n/a
35	chr14:105830248-105830298	CMK	blood:	n/a
36	chr14:105830248-105830298	BE2_C	brain:	n/a
37	chr14:105830248-105830298	IMR90	lung:	fetal
38	chr14:105830248-105830298	PFSK-1	brain:	n/a
39	chr14:105830248-105830298	LNCaP	prostate:	n/a
40	chr14:105830248-105830298	HRCEpiC	kidney:	n/a
41	chr14:105830248-105830298	NH-A	brain:	n/a
42	chr14:105830248-105830298	GM12878	blood:	n/a
43	chr14:105830248-105830298	AoSMC	blood vessel:	n/a
44	chr14:105830248-105830298	SK-N-SH_RA	brain:	n/a
45	chr14:105830248-105830298	MCF-7	breast:	n/a
46	chr14:105830248-105830298	U87	brain:	n/a
47	chr14:105830248-105830298	SAEC	small airway:	n/a
48	chr14:105830248-105830298	Jurkat	blood:	n/a
49	chr14:105830248-105830298	HUVEC	blood vessel:	n/a
50	chr14:105830248-105830298	HNPCEpiC	eye:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:105779300..105781951-chr14:105827412..105830285,2	MCF-7	breast:
2	chr14:105645357..105647784-chr14:105829989..105832618,2	MCF-7	breast:
3	chr14:105829901..105832392-chr14:105842010..105844115,2	K562	blood:
4	chr14:105830268..105832387-chr14:105835786..105838233,2	K562	blood:

No data

Variant related genes	Relation type
PACS2	TF binding region
PACS2	CpG island
ENSG00000257622	Chromatin interaction
ENSG00000183828	Chromatin interaction
ENSG00000179364	Chromatin interaction
ENSG00000185024	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10132353	1.00[JPT][hapmap]
rs10132438	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10135362	1.00[ASN][1000 genomes]
rs10141048	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10141334	1.00[JPT][hapmap]
rs10142682	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10147378	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10147674	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs10148379	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10148455	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11846567	1.00[JPT][hapmap]
rs11847128	1.00[JPT][hapmap];0.89[YRI][hapmap];0.83[AFR][1000 genomes]
rs11847153	1.00[ASN][1000 genomes]
rs11849421	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12101178	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs28378394	1.00[ASN][1000 genomes]
rs28450137	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28450331	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs28545538	1.00[ASN][1000 genomes]
rs28569215	1.00[ASN][1000 genomes]
rs4074004	1.00[JPT][hapmap]
rs4076933	1.00[JPT][hapmap]
rs4983411	1.00[JPT][hapmap]
rs57000673	1.00[ASN][1000 genomes]
rs57091581	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs57229884	1.00[ASN][1000 genomes]
rs58816330	0.83[ASN][1000 genomes]
rs59143495	1.00[ASN][1000 genomes]
rs60505080	0.80[AFR][1000 genomes]
rs60545468	1.00[ASN][1000 genomes]
rs6576084	0.83[ASN][1000 genomes]
rs7144362	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7161158	1.00[JPT][hapmap]
rs73357391	1.00[ASN][1000 genomes]
rs73359015	1.00[ASN][1000 genomes]
rs73359017	1.00[ASN][1000 genomes]
rs73359035	1.00[ASN][1000 genomes]
rs73359049	1.00[ASN][1000 genomes]
rs8004328	1.00[JPT][hapmap]
rs8008801	1.00[JPT][hapmap];0.80[LWK][hapmap];0.92[MKK][hapmap]
rs8010888	0.81[ASW][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.90[MKK][hapmap]
rs8016693	1.00[JPT][hapmap]
rs8021520	1.00[ASN][1000 genomes]
rs9671295	1.00[JPT][hapmap];0.82[LWK][hapmap];0.81[MKK][hapmap];0.86[YRI][hapmap]
rs9671782	0.83[ASN][1000 genomes]
rs9671890	1.00[JPT][hapmap];1.00[ASN][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	nsv530813	chr14:105607701-106453697	Strong transcription Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	149 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105797000-105849200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr14:105799800-105830800	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr14:105807400-105830800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr14:105807400-105833600	Weak transcription	Aorta	Aorta
5	chr14:105808600-105848600	Weak transcription	HSMMtube	muscle
6	chr14:105809800-105830400	Weak transcription	Fetal Lung	lung
7	chr14:105810000-105833800	Weak transcription	Colon Smooth Muscle	Colon
8	chr14:105814200-105848600	Weak transcription	Left Ventricle	heart
9	chr14:105816400-105831000	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr14:105818600-105830400	Weak transcription	Fetal Thymus	thymus
11	chr14:105818600-105830800	Weak transcription	Primary hematopoietic stem cells	blood
12	chr14:105818600-105846000	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr14:105818800-105830400	Weak transcription	K562	blood
14	chr14:105818800-105830800	Weak transcription	Primary B cells from cord blood	blood
15	chr14:105818800-105831000	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr14:105818800-105831000	Weak transcription	Fetal Heart	heart
17	chr14:105818800-105831000	Weak transcription	Stomach Mucosa	stomach
18	chr14:105818800-105831000	Weak transcription	NHEK	skin
19	chr14:105818800-105833600	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr14:105818800-105849200	Weak transcription	A549	lung
21	chr14:105820000-105831000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr14:105820600-105831000	Weak transcription	Small Intestine	intestine
23	chr14:105821800-105842600	Weak transcription	Fetal Brain Male	brain
24	chr14:105822000-105830400	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr14:105822000-105830400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr14:105822000-105848800	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr14:105822200-105830400	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr14:105822200-105831000	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr14:105822600-105830400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr14:105822600-105830400	Weak transcription	Thymus	Thymus
31	chr14:105822800-105830400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr14:105822800-105833600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr14:105822800-105847800	Weak transcription	Liver	Liver
34	chr14:105823000-105831000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr14:105823000-105833600	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr14:105823200-105830400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr14:105823600-105863400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr14:105823800-105833800	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr14:105823800-105837400	Weak transcription	HSMM	muscle
40	chr14:105823800-105846200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr14:105823800-105849600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr14:105825200-105830800	Weak transcription	Primary T cells from cord blood	blood
43	chr14:105825200-105833400	Weak transcription	Colonic Mucosa	Colon
44	chr14:105825400-105830400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr14:105825400-105830600	Weak transcription	Right Ventricle	heart
46	chr14:105825600-105830400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr14:105825600-105830600	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr14:105825600-105830800	Weak transcription	Brain Germinal Matrix	brain
49	chr14:105825600-105832800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr14:105825600-105833000	Weak transcription	Pancreas	Pancrea

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links