Variant report

Variant	rs10912864
Chromosome Location	chr1:174959278-174959279
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:174939098..174941697-chr1:174958676..174960962,2	K562	blood:
2	chr1:174931578..174936100-chr1:174955726..174960457,5	K562	blood:
3	chr1:174950773..174953880-chr1:174954270..174959481,6	MCF-7	breast:
4	chr1:174941236..174943096-chr1:174956615..174959571,2	MCF-7	breast:
5	chr1:174927580..174945830-chr1:174955726..174971213,32	K562	blood:
6	chr1:174819035..174821966-chr1:174956780..174959329,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000152061	Chromatin interaction
ENSG00000231378	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10912847	1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs10912851	1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];1.00[EUR][1000 genomes]
rs10912858	1.00[ASW][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11806870	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs12057161	0.93[YRI][hapmap];1.00[EUR][1000 genomes]
rs12066421	1.00[EUR][1000 genomes]
rs12068625	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12070082	1.00[EUR][1000 genomes]
rs12075193	1.00[EUR][1000 genomes]
rs12084999	0.94[YRI][hapmap];1.00[EUR][1000 genomes]
rs12095683	1.00[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap]
rs12096717	1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs1231828	1.00[EUR][1000 genomes]
rs1329280	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs1612104	1.00[EUR][1000 genomes]
rs1618234	1.00[EUR][1000 genomes]
rs1653631	1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs1653633	1.00[EUR][1000 genomes]
rs1653637	1.00[EUR][1000 genomes]
rs16847457	1.00[EUR][1000 genomes]
rs173000	1.00[EUR][1000 genomes]
rs1754356	1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs189141	1.00[EUR][1000 genomes]
rs2116515	1.00[EUR][1000 genomes]
rs2981891	1.00[EUR][1000 genomes]
rs2981895	1.00[EUR][1000 genomes]
rs2987871	1.00[EUR][1000 genomes]
rs2987878	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs332790	1.00[EUR][1000 genomes]
rs333434	1.00[EUR][1000 genomes]
rs58238388	1.00[EUR][1000 genomes]
rs59073370	1.00[EUR][1000 genomes]
rs60283543	1.00[EUR][1000 genomes]
rs6696432	1.00[EUR][1000 genomes]
rs74128516	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2755184	chr1:174388343-174970343	Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
2	nsv1001000	chr1:174944208-174978853	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:174924200-174967800	Weak transcription	Brain Germinal Matrix	brain
2	chr1:174935000-174964000	Strong transcription	HUES48 Cell Line	embryonic stem cell
3	chr1:174935000-174967000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr1:174935200-174959600	Weak transcription	Esophagus	oesophagus
5	chr1:174935800-174959600	Weak transcription	Fetal Kidney	kidney
6	chr1:174937000-174963600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
7	chr1:174937400-174963600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
8	chr1:174938000-174963600	Strong transcription	H1 Cell Line	embryonic stem cell
9	chr1:174938600-174959400	Weak transcription	Psoas Muscle	Psoas
10	chr1:174938600-174965200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr1:174940000-174967600	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr1:174940600-174962000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr1:174940600-174963600	Strong transcription	HUES6 Cell Line	embryonic stem cell
14	chr1:174941000-174968000	Weak transcription	Gastric	stomach
15	chr1:174941200-174959600	Weak transcription	Colonic Mucosa	Colon
16	chr1:174941200-174959600	Weak transcription	Stomach Mucosa	stomach
17	chr1:174941400-174959400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr1:174942800-174959600	Weak transcription	Right Ventricle	heart
19	chr1:174944400-174967800	Weak transcription	Aorta	Aorta
20	chr1:174944800-174967800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr1:174944800-174968000	Weak transcription	Spleen	Spleen
22	chr1:174946000-174968000	Weak transcription	Lung	lung
23	chr1:174946200-174959400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr1:174946400-174959600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr1:174946400-174959600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr1:174946800-174959400	Weak transcription	HMEC	breast
27	chr1:174946800-174959600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr1:174949000-174967800	Weak transcription	Fetal Stomach	stomach
29	chr1:174950600-174964400	Weak transcription	NH-A	brain
30	chr1:174952200-174967800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr1:174952400-174959600	Weak transcription	Left Ventricle	heart
32	chr1:174952400-174959600	Weak transcription	HSMM	muscle
33	chr1:174952400-174968000	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr1:174952600-174959400	Weak transcription	A549	lung
35	chr1:174952800-174965800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr1:174954800-174968000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr1:174956000-174967800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr1:174956200-174967400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr1:174956600-174960600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
40	chr1:174957200-174959600	Strong transcription	Fetal Intestine Large	intestine
41	chr1:174957200-174959600	Strong transcription	Placenta	Placenta
42	chr1:174957200-174963200	Strong transcription	HUES64 Cell Line	embryonic stem cell
43	chr1:174957800-174960200	Strong transcription	H9 Cell Line	embryonic stem cell
44	chr1:174957800-174960400	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr1:174958200-174959400	Genic enhancers	Primary T cells fromperipheralblood	blood
46	chr1:174958400-174959400	Enhancers	Primary T helper cells fromperipheralblood	blood
47	chr1:174958400-174959400	Enhancers	Fetal Muscle Trunk	muscle
48	chr1:174958400-174959400	Genic enhancers	Rectal Mucosa Donor 29	rectum
49	chr1:174958400-174959600	Strong transcription	ES-I3 Cell Line	embryonic stem cell
50	chr1:174958600-174959400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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