Variant report

Variant	rs4652152
Chromosome Location	chr1:176140927-176140928
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:176139119..176142139-chr6:26032575..26034849,4	MCF-7	breast:
2	chr1:176139139..176142119-chr6:26031592..26033955,2	K562	blood:

Variant related genes	Relation type
ENSG00000124693	Chromatin interaction
ENSG00000137259	Chromatin interaction

Extended variants
information (count: 110 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:105)

rs_ID	r²[population]
rs10158829	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10494496	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs10737316	1.00[CEU][hapmap];0.82[CHB][hapmap]
rs10798427	0.82[CHB][hapmap]
rs10798431	1.00[CEU][hapmap];0.82[CHB][hapmap]
rs10798435	1.00[CEU][hapmap]
rs10913150	0.82[CHB][hapmap]
rs11803301	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11804926	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11806468	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11809136	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11809835	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12239888	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16849522	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16849571	1.00[ASN][1000 genomes]
rs16849645	1.00[EUR][1000 genomes]
rs16849697	0.83[EUR][1000 genomes]
rs1831447	1.00[CEU][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2039231	0.82[CHB][hapmap]
rs2039232	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2136545	1.00[EUR][1000 genomes]
rs2481627	0.82[CHB][hapmap]
rs2481639	0.97[ASN][1000 genomes]
rs2481641	0.82[CHB][hapmap]
rs2481647	0.82[CHB][hapmap]
rs2481653	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs2481657	0.82[CHB][hapmap]
rs2481660	0.91[ASN][1000 genomes]
rs2502822	0.82[CHB][hapmap]
rs2502824	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs2502825	0.84[ASN][1000 genomes]
rs2502826	0.82[CHB][hapmap]
rs2502832	0.82[CHB][hapmap]
rs2502834	0.82[CHB][hapmap]
rs2502835	0.82[CHB][hapmap]
rs2502836	0.82[CHB][hapmap]
rs2502841	0.82[CHB][hapmap]
rs2502842	0.82[CHB][hapmap]
rs3845368	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4543747	1.00[CEU][hapmap];0.82[CHB][hapmap]
rs4650936	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4652141	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4652142	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4652143	1.00[CHB][hapmap]
rs4652144	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4652145	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4652148	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4652150	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4652151	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4652154	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4652155	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4652170	1.00[EUR][1000 genomes]
rs471534	0.81[ASN][1000 genomes]
rs553852	0.82[CHB][hapmap]
rs559341	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs55969691	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55979360	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56981673	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57395528	0.93[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs57469471	0.88[ASN][1000 genomes]
rs58178699	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58305404	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58325269	0.97[ASN][1000 genomes]
rs58408024	1.00[EUR][1000 genomes]
rs58743849	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59276566	1.00[EUR][1000 genomes]
rs59373738	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs598177	0.97[ASN][1000 genomes]
rs599326	0.82[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs60086820	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs602933	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs61451700	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6672278	0.87[ASN][1000 genomes]
rs6688211	0.82[CHB][hapmap]
rs6704509	0.82[CHB][hapmap]
rs704825	0.97[ASN][1000 genomes]
rs704830	1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs704831	1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs73038827	1.00[AMR][1000 genomes]
rs73038833	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73040925	0.87[ASN][1000 genomes]
rs73040940	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73040951	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73042718	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73042723	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73042728	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73042741	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73042749	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73042795	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73042800	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74127189	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs74127190	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74129027	1.00[EUR][1000 genomes]
rs74129030	1.00[EUR][1000 genomes]
rs74129032	1.00[EUR][1000 genomes]
rs7521561	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7536464	1.00[CEU][hapmap];0.82[CHB][hapmap]
rs7539247	0.82[CHB][hapmap]
rs7543769	1.00[CEU][hapmap];0.82[CHB][hapmap]
rs7543882	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7553184	0.82[CHB][hapmap]
rs796933	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs796934	0.81[ASN][1000 genomes]
rs9783047	0.82[CHB][hapmap]
rs9792842	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1823794	chr1:175869554-176311778	Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv872562	chr1:175949646-176141866	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv872563	chr1:175949646-176184625	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv872565	chr1:176058782-176172795	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv8558	chr1:176135063-176141916	Enhancers Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:176055000-176141600	Weak transcription	Hela-S3	cervix
2	chr1:176065600-176154800	Weak transcription	Aorta	Aorta
3	chr1:176070400-176151400	Weak transcription	Pancreas	Pancrea
4	chr1:176085400-176142400	Weak transcription	Lung	lung
5	chr1:176100800-176153200	Weak transcription	Colonic Mucosa	Colon
6	chr1:176110600-176164000	Weak transcription	NHLF	lung
7	chr1:176116000-176146200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr1:176123800-176144200	Weak transcription	Left Ventricle	heart
9	chr1:176123800-176150000	Weak transcription	Osteobl	bone
10	chr1:176126400-176168800	Weak transcription	Small Intestine	intestine
11	chr1:176127000-176147000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr1:176127000-176174000	Weak transcription	Colon Smooth Muscle	Colon
13	chr1:176127200-176153400	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr1:176127400-176141200	Weak transcription	HMEC	breast
15	chr1:176127400-176143200	Weak transcription	Brain Substantia Nigra	brain
16	chr1:176127400-176144200	Weak transcription	A549	lung
17	chr1:176127400-176153400	Weak transcription	Stomach Smooth Muscle	stomach
18	chr1:176127400-176155400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr1:176128000-176144200	Weak transcription	Gastric	stomach
20	chr1:176128000-176147000	Weak transcription	Stomach Mucosa	stomach
21	chr1:176128000-176157800	Weak transcription	Spleen	Spleen
22	chr1:176128000-176175200	Weak transcription	Esophagus	oesophagus
23	chr1:176128400-176154600	Weak transcription	Rectal Smooth Muscle	rectum
24	chr1:176128600-176147000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr1:176128600-176147200	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr1:176128600-176155600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr1:176128800-176152800	Weak transcription	Brain Cingulate Gyrus	brain
28	chr1:176128800-176152800	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr1:176128800-176154200	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr1:176130400-176141800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr1:176130400-176143200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr1:176130800-176141000	Weak transcription	Ovary	ovary
33	chr1:176130800-176141600	Weak transcription	Fetal Heart	heart
34	chr1:176131000-176143400	Weak transcription	NHDF-Ad	bronchial
35	chr1:176131000-176144000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr1:176131200-176141800	Weak transcription	HepG2	liver
37	chr1:176131400-176142600	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr1:176131800-176143600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr1:176132200-176141600	Weak transcription	Placenta	Placenta
40	chr1:176132200-176154200	Weak transcription	NH-A	brain
41	chr1:176132400-176143400	Weak transcription	NHEK	skin
42	chr1:176134400-176152800	Weak transcription	Brain Angular Gyrus	brain
43	chr1:176135000-176142400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
44	chr1:176135200-176144600	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr1:176136000-176141600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr1:176136200-176147400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr1:176136600-176141800	Weak transcription	Fetal Stomach	stomach
48	chr1:176137400-176173000	Weak transcription	Right Ventricle	heart
49	chr1:176137800-176142200	Strong transcription	Primary B cells from peripheral blood	blood
50	chr1:176137800-176142200	Strong transcription	HSMM	muscle

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