Variant report

Variant	rs10497387
Chromosome Location	chr2:173835791-173835792
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:173821930..173824208-chr2:173835620..173838568,3	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs1011345	1.00[AFR][1000 genomes]
rs10497388	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10497389	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10754979	1.00[JPT][hapmap]
rs12465032	1.00[JPT][hapmap]
rs12616206	1.00[AFR][1000 genomes]
rs12619862	1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12624093	1.00[AFR][1000 genomes]
rs13023047	0.96[ASN][1000 genomes]
rs16861125	1.00[AFR][1000 genomes]
rs16861137	0.84[AMR][1000 genomes]
rs16861148	1.00[AFR][1000 genomes]
rs16861173	1.00[AFR][1000 genomes]
rs17707776	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs2121483	1.00[AFR][1000 genomes]
rs2166588	1.00[AFR][1000 genomes]
rs2242079	1.00[AFR][1000 genomes]
rs2305461	1.00[AFR][1000 genomes]
rs3769225	1.00[AFR][1000 genomes]
rs3769226	1.00[AFR][1000 genomes]
rs3769227	1.00[AFR][1000 genomes]
rs3769229	1.00[AFR][1000 genomes]
rs3769245	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3769246	1.00[AFR][1000 genomes]
rs3769248	1.00[AFR][1000 genomes]
rs3820840	1.00[AFR][1000 genomes]
rs3820841	1.00[AFR][1000 genomes]
rs4972522	1.00[ASN][1000 genomes]
rs62174630	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs62174632	1.00[AFR][1000 genomes]
rs62174644	1.00[AFR][1000 genomes]
rs62174645	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs62175769	1.00[AFR][1000 genomes]
rs72894145	0.84[AMR][1000 genomes]
rs72894151	0.80[AMR][1000 genomes]
rs72896055	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72896070	1.00[AFR][1000 genomes]
rs72909440	1.00[AFR][1000 genomes]
rs72909444	1.00[AFR][1000 genomes]
rs72909446	1.00[AFR][1000 genomes]
rs745288	1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs7604579	0.82[JPT][hapmap]

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	nsv834459	chr2:173735192-173926750	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173829000-173842800	Weak transcription	Brain Cingulate Gyrus	brain
2	chr2:173830400-173840400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr2:173831000-173835800	Enhancers	HUVEC	blood vessel
4	chr2:173831600-173838200	Enhancers	Fetal Thymus	thymus
5	chr2:173832200-173850000	Weak transcription	Brain Anterior Caudate	brain
6	chr2:173832600-173850200	Weak transcription	Brain Hippocampus Middle	brain
7	chr2:173832800-173837600	Enhancers	Liver	Liver
8	chr2:173833800-173842200	Weak transcription	Fetal Heart	heart
9	chr2:173833800-173845000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr2:173833800-173855600	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr2:173833800-173859000	Weak transcription	Fetal Intestine Small	intestine
12	chr2:173833800-173860800	Weak transcription	Right Ventricle	heart
13	chr2:173834000-173841800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr2:173834200-173835800	Enhancers	NHEK	skin
15	chr2:173834200-173836800	Enhancers	Dnd41	blood
16	chr2:173834200-173841400	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr2:173834200-173842200	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr2:173834200-173855800	Weak transcription	Brain Angular Gyrus	brain
19	chr2:173834400-173835800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr2:173834400-173836000	Enhancers	Fetal Lung	lung
21	chr2:173834600-173835800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
22	chr2:173834800-173837200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr2:173835000-173835800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr2:173835000-173835800	Enhancers	Left Ventricle	heart
25	chr2:173835000-173835800	Enhancers	Hela-S3	cervix
26	chr2:173835000-173836200	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr2:173835200-173835800	Enhancers	Primary T helper cells fromperipheralblood	blood
28	chr2:173835200-173840800	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr2:173835400-173835800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr2:173835400-173835800	Flanking Active TSS	Primary T cells from cord blood	blood
31	chr2:173835400-173835800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
32	chr2:173835600-173835800	Enhancers	Lung	lung
33	chr2:173835600-173835800	Enhancers	HMEC	breast
34	chr2:173835600-173836000	Flanking Active TSS	Thymus	Thymus
35	chr2:173835600-173836200	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr2:173835600-173836200	Enhancers	Fetal Stomach	stomach

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