Variant report

Variant	rs10911597
Chromosome Location	chr1:184410908-184410909
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:184355424..184358293-chr1:184409856..184412103,2	MCF-7	breast:
2	chr1:184408675..184411501-chr3:161089503..161092358,2	MCF-7	breast:
3	chr1:184409895..184411930-chr1:184415037..184417924,2	MCF-7	breast:
4	chr1:184405912..184408015-chr1:184409739..184411980,2	MCF-7	breast:
5	chr1:184410703..184412418-chr1:184418970..184420642,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000196542	Chromatin interaction
ENSG00000116667	Chromatin interaction
ENSG00000271387	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11799574	0.97[EUR][1000 genomes]
rs12120928	0.88[AFR][1000 genomes]
rs12123538	0.81[EUR][1000 genomes]
rs12128343	0.97[EUR][1000 genomes]
rs12128424	1.00[EUR][1000 genomes]
rs12129504	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12130008	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12131730	0.81[AMR][1000 genomes]
rs12135850	0.97[EUR][1000 genomes]
rs12136470	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12138263	0.97[EUR][1000 genomes]
rs12142338	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12142568	0.97[EUR][1000 genomes]
rs12142676	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12145326	0.97[EUR][1000 genomes]
rs13374592	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs16823133	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2224029	0.97[EUR][1000 genomes]
rs41263668	0.82[EUR][1000 genomes]
rs56173711	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs59688287	0.97[EUR][1000 genomes]
rs60650088	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73063509	0.97[EUR][1000 genomes]
rs74131663	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs74131671	0.97[EUR][1000 genomes]
rs74131672	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74131673	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];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	nsv530079	chr1:183797938-184639971	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	esv2756618	chr1:184393343-184674343	Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Weak transcription 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	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184383800-184412400	Weak transcription	Fetal Stomach	stomach
2	chr1:184390600-184422400	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr1:184396000-184412800	Weak transcription	Fetal Muscle Leg	muscle
4	chr1:184396200-184412800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr1:184396200-184418800	Weak transcription	NHEK	skin
6	chr1:184396200-184419000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr1:184396400-184430000	Weak transcription	Spleen	Spleen
8	chr1:184398600-184411400	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr1:184398800-184418800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:184400400-184412800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr1:184402600-184417400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr1:184403000-184423600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr1:184403800-184411400	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr1:184404800-184412800	Weak transcription	Left Ventricle	heart
15	chr1:184406000-184422200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr1:184406400-184412200	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr1:184407800-184412800	Weak transcription	Psoas Muscle	Psoas
18	chr1:184407800-184419000	Weak transcription	Right Ventricle	heart
19	chr1:184408000-184412400	Weak transcription	Right Atrium	heart
20	chr1:184408600-184421200	Weak transcription	Stomach Mucosa	stomach
21	chr1:184410000-184411800	Enhancers	Small Intestine	intestine
22	chr1:184410000-184413000	Enhancers	Fetal Intestine Large	intestine
23	chr1:184410200-184413000	Enhancers	Sigmoid Colon	Sigmoid Colon
24	chr1:184410400-184412400	Enhancers	Rectal Mucosa Donor 31	rectum
25	chr1:184410600-184412000	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr1:184410600-184413000	Enhancers	Duodenum Mucosa	Duodenum
27	chr1:184410600-184413000	Enhancers	Fetal Intestine Small	intestine
28	chr1:184410600-184422000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr1:184410800-184411200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr1:184410800-184412200	Weak transcription	Fetal Lung	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links