Variant report

Variant	rs17354252
Chromosome Location	chr1:176149668-176149669
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:176148340..176150174-chr1:176160183..176162598,2	K562	blood:
2	chr1:176149132..176153011-chr1:176153714..176156384,3	K562	blood:
3	chr1:176148670..176151636-chr1:176153714..176157019,4	K562	blood:

Variant related genes	Relation type
ENSG00000143207	Chromatin interaction

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10494499	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10913150	0.91[CEU][hapmap];0.89[EUR][1000 genomes]
rs11579181	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11579291	0.86[ASN][1000 genomes]
rs11587254	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11587785	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11588480	1.00[JPT][hapmap]
rs12403794	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12404181	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs16849609	0.82[AFR][1000 genomes]
rs17351808	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17351933	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17352072	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2481627	0.91[CEU][hapmap];0.83[EUR][1000 genomes]
rs2481634	0.85[EUR][1000 genomes]
rs2481635	0.89[EUR][1000 genomes]
rs2481647	0.83[CEU][hapmap]
rs2481657	0.91[CEU][hapmap]
rs2502822	0.91[CEU][hapmap]
rs2502826	0.91[CEU][hapmap]
rs2502830	0.85[EUR][1000 genomes]
rs2502832	0.91[CEU][hapmap];0.85[EUR][1000 genomes]
rs2502836	0.91[CEU][hapmap];0.85[EUR][1000 genomes]
rs2502841	0.91[CEU][hapmap];0.85[EUR][1000 genomes]
rs2502842	0.91[CEU][hapmap];0.81[EUR][1000 genomes]
rs2502847	0.83[EUR][1000 genomes]
rs2861630	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4129061	0.90[CEU][hapmap]
rs4460596	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs4601543	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4603086	0.83[EUR][1000 genomes]
rs4650934	0.88[EUR][1000 genomes]
rs471534	0.83[EUR][1000 genomes]
rs533403	0.89[EUR][1000 genomes]
rs553852	0.91[CEU][hapmap];0.83[EUR][1000 genomes]
rs56192244	1.00[ASN][1000 genomes]
rs56367284	0.83[EUR][1000 genomes]
rs56943475	1.00[ASN][1000 genomes]
rs580978	0.91[CEU][hapmap];0.89[EUR][1000 genomes]
rs60719126	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs60964243	0.84[AMR][1000 genomes]
rs61186664	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs611883	0.81[EUR][1000 genomes]
rs61820953	0.88[AMR][1000 genomes]
rs61820960	0.88[AMR][1000 genomes]
rs61820965	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs61820968	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs61820999	0.91[AMR][1000 genomes]
rs61821007	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61821009	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61821028	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61821029	0.83[EUR][1000 genomes]
rs61822662	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61822767	0.88[AMR][1000 genomes]
rs6704509	0.91[CEU][hapmap]
rs704827	0.91[CEU][hapmap];0.83[EUR][1000 genomes]
rs74127154	0.81[AMR][1000 genomes]
rs74127185	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7554913	1.00[CEU][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes]
rs791744	0.91[CEU][hapmap];0.89[EUR][1000 genomes]
rs791795	0.85[EUR][1000 genomes]
rs791800	0.89[EUR][1000 genomes]
rs791801	0.83[CEU][hapmap];0.89[EUR][1000 genomes]
rs9783047	0.91[CEU][hapmap]

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	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	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
3	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

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:176065600-176154800	Weak transcription	Aorta	Aorta
2	chr1:176070400-176151400	Weak transcription	Pancreas	Pancrea
3	chr1:176100800-176153200	Weak transcription	Colonic Mucosa	Colon
4	chr1:176110600-176164000	Weak transcription	NHLF	lung
5	chr1:176123800-176150000	Weak transcription	Osteobl	bone
6	chr1:176126400-176168800	Weak transcription	Small Intestine	intestine
7	chr1:176127000-176174000	Weak transcription	Colon Smooth Muscle	Colon
8	chr1:176127200-176153400	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr1:176127400-176153400	Weak transcription	Stomach Smooth Muscle	stomach
10	chr1:176127400-176155400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr1:176128000-176157800	Weak transcription	Spleen	Spleen
12	chr1:176128000-176175200	Weak transcription	Esophagus	oesophagus
13	chr1:176128400-176154600	Weak transcription	Rectal Smooth Muscle	rectum
14	chr1:176128600-176155600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr1:176128800-176152800	Weak transcription	Brain Cingulate Gyrus	brain
16	chr1:176128800-176152800	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr1:176128800-176154200	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr1:176132200-176154200	Weak transcription	NH-A	brain
19	chr1:176134400-176152800	Weak transcription	Brain Angular Gyrus	brain
20	chr1:176137400-176173000	Weak transcription	Right Ventricle	heart
21	chr1:176138200-176155800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr1:176138800-176155400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr1:176139000-176153800	Strong transcription	Dnd41	blood
24	chr1:176139800-176152600	Weak transcription	Brain Anterior Caudate	brain
25	chr1:176140000-176155800	Weak transcription	Fetal Brain Female	brain
26	chr1:176140000-176157800	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr1:176140000-176168200	Weak transcription	Psoas Muscle	Psoas
28	chr1:176140200-176150200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr1:176140200-176152200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr1:176140800-176153600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr1:176140800-176155800	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr1:176142200-176153400	Weak transcription	Fetal Heart	heart
33	chr1:176142200-176154400	Weak transcription	Fetal Kidney	kidney
34	chr1:176142800-176149800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr1:176142800-176157800	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr1:176142800-176162200	Weak transcription	HepG2	liver
37	chr1:176143000-176150600	Weak transcription	Fetal Intestine Small	intestine
38	chr1:176143000-176150600	Weak transcription	Thymus	Thymus
39	chr1:176143000-176151200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr1:176143000-176153000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr1:176143000-176165800	Weak transcription	Lung	lung
42	chr1:176143600-176152400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr1:176143800-176153200	Weak transcription	HSMMtube	muscle
44	chr1:176144000-176149800	Weak transcription	HSMM	muscle
45	chr1:176144000-176150000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr1:176144000-176172800	Weak transcription	HMEC	breast
47	chr1:176144200-176155600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr1:176144400-176152200	Weak transcription	NHEK	skin
49	chr1:176144400-176158200	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr1:176144400-176170800	Weak transcription	K562	blood

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