Variant report

Variant	rs12062374
Chromosome Location	chr1:185019231-185019232
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:185016452..185019529-chr1:185020434..185022223,3	MCF-7	breast:
2	chr1:185016719..185019700-chr1:185022718..185024922,3	MCF-7	breast:
3	chr1:185013196..185015718-chr1:185019128..185020796,2	MCF-7	breast:
4	chr1:184721807..184724064-chr1:185018765..185021188,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000116406	Chromatin interaction
ENSG00000121481	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10911672	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12057864	1.00[YRI][hapmap]
rs12059402	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12076847	1.00[AMR][1000 genomes]
rs12077730	1.00[YRI][hapmap]
rs12090423	1.00[AMR][1000 genomes]
rs12093884	1.00[AMR][1000 genomes]
rs16823734	1.00[ASW][hapmap]
rs55855715	1.00[AMR][1000 genomes]
rs74134431	1.00[AMR][1000 genomes]
rs74134432	1.00[AMR][1000 genomes]
rs74134441	1.00[AMR][1000 genomes]

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	nsv1001323	chr1:184525419-185315876	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	nsv535222	chr1:184525419-185315876	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv525731	chr1:184812165-185038104	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:185015600-185034200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:185015600-185037000	Weak transcription	Spleen	Spleen
3	chr1:185015600-185037600	Weak transcription	Pancreas	Pancrea
4	chr1:185015800-185023400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr1:185015800-185037600	Weak transcription	Aorta	Aorta
6	chr1:185015800-185043400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr1:185016000-185025600	Weak transcription	Ovary	ovary
8	chr1:185016000-185026600	Weak transcription	Psoas Muscle	Psoas
9	chr1:185016000-185026600	Weak transcription	Right Atrium	heart
10	chr1:185016000-185034400	Weak transcription	Fetal Muscle Trunk	muscle
11	chr1:185016200-185023600	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr1:185016400-185022600	Weak transcription	Placenta	Placenta
13	chr1:185016400-185030000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr1:185016400-185057000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr1:185016400-185067200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:185016400-185073800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr1:185016600-185019800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr1:185016600-185020200	Weak transcription	Brain Angular Gyrus	brain
19	chr1:185016600-185020200	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr1:185016600-185022600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr1:185016600-185026600	Weak transcription	Primary B cells from peripheral blood	blood
22	chr1:185016600-185026600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr1:185016600-185026800	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr1:185016600-185057000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr1:185016800-185020200	Weak transcription	A549	lung
26	chr1:185016800-185028600	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr1:185017000-185019600	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr1:185017000-185020200	Weak transcription	Brain Cingulate Gyrus	brain
29	chr1:185017200-185020200	Weak transcription	Brain Germinal Matrix	brain
30	chr1:185017200-185020600	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr1:185017200-185027400	Weak transcription	Colon Smooth Muscle	Colon
32	chr1:185017200-185037400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr1:185017400-185019600	Weak transcription	Fetal Brain Female	brain
34	chr1:185017400-185020000	Weak transcription	Brain Substantia Nigra	brain
35	chr1:185017400-185020200	Weak transcription	Brain Hippocampus Middle	brain
36	chr1:185017400-185020400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr1:185017400-185021200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr1:185017400-185021400	Weak transcription	Fetal Kidney	kidney
39	chr1:185017400-185021800	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr1:185017400-185023400	Weak transcription	Fetal Intestine Large	intestine
41	chr1:185017400-185026600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr1:185017400-185026600	Weak transcription	Primary T helper cells fromperipheralblood	blood
43	chr1:185017400-185026600	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr1:185017400-185026800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr1:185017400-185027600	Weak transcription	Primary T cells from cord blood	blood
46	chr1:185017400-185028200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr1:185017400-185028200	Weak transcription	Small Intestine	intestine
48	chr1:185017400-185028400	Weak transcription	NH-A	brain
49	chr1:185017400-185029000	Weak transcription	K562	blood
50	chr1:185017400-185031000	Weak transcription	Stomach Mucosa	stomach

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