Variant report

Variant	rs2246677
Chromosome Location	chr1:179265935-179265936
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:179262971..179265535-chr1:179265690..179267660,2	K562	blood:
2	chr1:179264767..179267490-chr1:179269682..179272613,2	K562	blood:
3	chr1:179263909..179265943-chr1:179276676..179278197,2	MCF-7	breast:
4	chr1:179264612..179267610-chr1:179271522..179273939,3	MCF-7	breast:
5	chr1:179050855..179053575-chr1:179263211..179266215,3	K562	blood:

Variant related genes	Relation type
ENSG00000186283	Chromatin interaction
ENSG00000057252	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs16853696	0.82[YRI][hapmap]
rs16853718	0.82[YRI][hapmap]
rs17838214	0.82[YRI][hapmap]
rs2244569	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs2244570	1.00[ASW][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs2248847	0.91[AFR][1000 genomes]
rs2250649	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2250753	1.00[AMR][1000 genomes]
rs2251123	0.91[AFR][1000 genomes]
rs2254625	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2256282	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2484447	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2484448	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs2493115	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6668333	0.83[AFR][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	nsv1005278	chr1:179197645-179371395	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2246677	RASIP1	trans	lymphoblastoid	seeQTL

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:179263600-179266600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
2	chr1:179263800-179267600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:179263800-179268400	Enhancers	Primary B cells from peripheral blood	blood
4	chr1:179263800-179304600	Weak transcription	Lung	lung
5	chr1:179263800-179306400	Weak transcription	Gastric	stomach
6	chr1:179264000-179266400	Enhancers	Small Intestine	intestine
7	chr1:179264000-179266800	Enhancers	Placenta	Placenta
8	chr1:179264000-179271400	Weak transcription	Fetal Muscle Trunk	muscle
9	chr1:179264000-179279600	Weak transcription	Fetal Brain Male	brain
10	chr1:179264200-179290200	Weak transcription	Aorta	Aorta
11	chr1:179264400-179266400	Enhancers	Liver	Liver
12	chr1:179264400-179266600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr1:179264400-179267400	Weak transcription	Spleen	Spleen
14	chr1:179264400-179267600	Weak transcription	Fetal Thymus	thymus
15	chr1:179264400-179271400	Weak transcription	Left Ventricle	heart
16	chr1:179264600-179266000	Enhancers	Stomach Mucosa	stomach
17	chr1:179264600-179266400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
18	chr1:179264600-179266600	Enhancers	Primary B cells from cord blood	blood
19	chr1:179264600-179266600	Weak transcription	Pancreas	Pancrea
20	chr1:179264600-179267800	Weak transcription	A549	lung
21	chr1:179264600-179268000	Weak transcription	Thymus	Thymus
22	chr1:179264600-179268400	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr1:179264600-179271400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr1:179264600-179271400	Weak transcription	Fetal Stomach	stomach
25	chr1:179264600-179271600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr1:179264600-179271600	Weak transcription	Psoas Muscle	Psoas
27	chr1:179264600-179271600	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr1:179264600-179272000	Weak transcription	Stomach Smooth Muscle	stomach
29	chr1:179264600-179272800	Weak transcription	Fetal Lung	lung
30	chr1:179264600-179273400	Weak transcription	Fetal Intestine Small	intestine
31	chr1:179264600-179273400	Weak transcription	Fetal Muscle Leg	muscle
32	chr1:179264600-179274200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr1:179264600-179275000	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr1:179264600-179278600	Weak transcription	Colonic Mucosa	Colon
35	chr1:179264600-179281200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr1:179264600-179292000	Weak transcription	Rectal Smooth Muscle	rectum
37	chr1:179264600-179304600	Weak transcription	Right Ventricle	heart
38	chr1:179264600-179310200	Weak transcription	Brain Substantia Nigra	brain
39	chr1:179264600-179314000	Weak transcription	Brain Angular Gyrus	brain
40	chr1:179264600-179314000	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr1:179264800-179266000	Enhancers	NH-A	brain
42	chr1:179264800-179266800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
43	chr1:179264800-179267800	Enhancers	Primary T killer memory cells from peripheral blood	blood
44	chr1:179264800-179267800	Weak transcription	Duodenum Mucosa	Duodenum
45	chr1:179264800-179268000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr1:179264800-179268000	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr1:179264800-179268200	Enhancers	Primary T cells from cord blood	blood
48	chr1:179264800-179270400	Enhancers	Primary T helper cells fromperipheralblood	blood
49	chr1:179264800-179271400	Enhancers	Primary T helper naive cells from peripheral blood	blood
50	chr1:179264800-179271400	Weak transcription	Fetal Intestine Large	intestine

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