Variant report

Variant	rs12065094
Chromosome Location	chr1:226886574-226886575
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:226869935..226871872-chr1:226885143..226887815,3	K562	blood:
2	chr1:226884166..226888758-chr1:226889043..226894194,11	MCF-7	breast:
3	chr1:226880953..226883068-chr1:226884444..226887006,2	MCF-7	breast:
4	chr1:226885960..226886934-chr1:227100482..227101035,2	K562	blood:
5	chr1:226870070..226871872-chr1:226885143..226887815,2	K562	blood:
6	chr1:226850865..226853471-chr1:226885650..226887593,2	MCF-7	breast:
7	chr1:226884618..226887429-chr1:226890761..226892287,2	MCF-7	breast:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs58755194	1.00[AMR][1000 genomes]
rs73100937	1.00[AMR][1000 genomes]
rs73100938	1.00[AMR][1000 genomes]
rs73100939	1.00[AMR][1000 genomes]
rs73100942	0.81[AFR][1000 genomes];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	nsv522446	chr1:226785530-226923938	Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv997468	chr1:226858660-226975311	Enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv535316	chr1:226858660-226975311	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226868600-226888200	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr1:226870000-226888800	Genic enhancers	Primary T cells fromperipheralblood	blood
3	chr1:226872800-226890000	Weak transcription	Pancreas	Pancrea
4	chr1:226876800-226887600	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr1:226876800-226890400	Genic enhancers	Primary T cells from cord blood	blood
6	chr1:226877800-226890200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr1:226878400-226890800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr1:226878600-226889400	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr1:226878600-226889600	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr1:226879000-226886600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr1:226879200-226890800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr1:226879800-226890200	Weak transcription	Fetal Intestine Large	intestine
13	chr1:226880200-226888800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
14	chr1:226880200-226888800	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
15	chr1:226880800-226888800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr1:226881000-226889600	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr1:226881200-226890600	Weak transcription	Aorta	Aorta
18	chr1:226881600-226888600	Genic enhancers	Primary B cells from cord blood	blood
19	chr1:226882200-226886800	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
20	chr1:226882400-226887200	Enhancers	Brain Angular Gyrus	brain
21	chr1:226882400-226890200	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr1:226882400-226890600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr1:226882800-226888600	Genic enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr1:226883000-226886800	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr1:226883200-226886600	Genic enhancers	Fetal Muscle Trunk	muscle
26	chr1:226883200-226886600	Genic enhancers	Fetal Muscle Leg	muscle
27	chr1:226883200-226887200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr1:226883200-226887200	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr1:226883200-226887200	Strong transcription	Fetal Intestine Small	intestine
30	chr1:226883200-226887200	Genic enhancers	Fetal Thymus	thymus
31	chr1:226883200-226887400	Strong transcription	Dnd41	blood
32	chr1:226883200-226887600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
33	chr1:226883200-226887800	Strong transcription	Primary monocytes fromperipheralblood	blood
34	chr1:226883200-226888800	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
35	chr1:226883400-226887200	Genic enhancers	Spleen	Spleen
36	chr1:226883400-226890200	Enhancers	Rectal Smooth Muscle	rectum
37	chr1:226883600-226887000	Enhancers	HMEC	breast
38	chr1:226883600-226887600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
39	chr1:226883800-226887200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr1:226883800-226888600	Weak transcription	Right Ventricle	heart
41	chr1:226884200-226887800	Genic enhancers	Brain Hippocampus Middle	brain
42	chr1:226884400-226887000	Genic enhancers	Colon Smooth Muscle	Colon
43	chr1:226884400-226887000	Enhancers	Left Ventricle	heart
44	chr1:226884400-226887000	Genic enhancers	Thymus	Thymus
45	chr1:226884400-226890200	Enhancers	Duodenum Smooth Muscle	Duodenum
46	chr1:226884600-226887200	Strong transcription	Primary neutrophils fromperipheralblood	blood
47	chr1:226884600-226887400	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
48	chr1:226884600-226889000	Genic enhancers	Brain Substantia Nigra	brain
49	chr1:226884800-226886800	Enhancers	NHEK	skin
50	chr1:226884800-226887000	Strong transcription	Primary hematopoietic stem cells	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links