Variant report

Variant	rs6696464
Chromosome Location	chr1:179265075-179265076
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:179264767..179267490-chr1:179269682..179272613,2	K562	blood:
2	chr1:179263909..179265943-chr1:179276676..179278197,2	MCF-7	breast:
3	chr1:179260885..179265137-chr1:179333383..179339387,7	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
ENSG00000263633	Chromatin interaction
ENSG00000186283	Chromatin interaction
ENSG00000162779	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10798659	0.82[EUR][1000 genomes]
rs10913713	0.82[EUR][1000 genomes]
rs10913714	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10913718	0.82[EUR][1000 genomes]
rs12047131	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1475799	0.82[EUR][1000 genomes]
rs17368880	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2902277	0.82[EUR][1000 genomes]
rs3923881	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3923882	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4278336	0.80[EUR][1000 genomes]
rs4651022	0.82[EUR][1000 genomes]
rs6425524	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6425526	0.82[EUR][1000 genomes]
rs6425533	0.82[EUR][1000 genomes]
rs6667804	0.82[EUR][1000 genomes]
rs6671532	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6691771	0.82[EUR][1000 genomes]
rs6694235	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6696781	0.82[EUR][1000 genomes]
rs6698438	0.82[EUR][1000 genomes]
rs6704240	0.82[EUR][1000 genomes]
rs7354893	0.82[EUR][1000 genomes]
rs7522641	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7543894	0.82[EUR][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

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:179261800-179265800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:179263600-179266600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
3	chr1:179263800-179267600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:179263800-179268400	Enhancers	Primary B cells from peripheral blood	blood
5	chr1:179263800-179304600	Weak transcription	Lung	lung
6	chr1:179263800-179306400	Weak transcription	Gastric	stomach
7	chr1:179264000-179265400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr1:179264000-179266400	Enhancers	Small Intestine	intestine
9	chr1:179264000-179266800	Enhancers	Placenta	Placenta
10	chr1:179264000-179271400	Weak transcription	Fetal Muscle Trunk	muscle
11	chr1:179264000-179279600	Weak transcription	Fetal Brain Male	brain
12	chr1:179264200-179290200	Weak transcription	Aorta	Aorta
13	chr1:179264400-179265200	Enhancers	Primary hematopoietic stem cells	blood
14	chr1:179264400-179266400	Enhancers	Liver	Liver
15	chr1:179264400-179266600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr1:179264400-179267400	Weak transcription	Spleen	Spleen
17	chr1:179264400-179267600	Weak transcription	Fetal Thymus	thymus
18	chr1:179264400-179271400	Weak transcription	Left Ventricle	heart
19	chr1:179264600-179265200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr1:179264600-179265600	Enhancers	Primary T cells fromperipheralblood	blood
21	chr1:179264600-179266000	Enhancers	Stomach Mucosa	stomach
22	chr1:179264600-179266400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr1:179264600-179266600	Enhancers	Primary B cells from cord blood	blood
24	chr1:179264600-179266600	Weak transcription	Pancreas	Pancrea
25	chr1:179264600-179267800	Weak transcription	A549	lung
26	chr1:179264600-179268000	Weak transcription	Thymus	Thymus
27	chr1:179264600-179268400	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr1:179264600-179271400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr1:179264600-179271400	Weak transcription	Fetal Stomach	stomach
30	chr1:179264600-179271600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr1:179264600-179271600	Weak transcription	Psoas Muscle	Psoas
32	chr1:179264600-179271600	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr1:179264600-179272000	Weak transcription	Stomach Smooth Muscle	stomach
34	chr1:179264600-179272800	Weak transcription	Fetal Lung	lung
35	chr1:179264600-179273400	Weak transcription	Fetal Intestine Small	intestine
36	chr1:179264600-179273400	Weak transcription	Fetal Muscle Leg	muscle
37	chr1:179264600-179274200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr1:179264600-179275000	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr1:179264600-179278600	Weak transcription	Colonic Mucosa	Colon
40	chr1:179264600-179281200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr1:179264600-179292000	Weak transcription	Rectal Smooth Muscle	rectum
42	chr1:179264600-179304600	Weak transcription	Right Ventricle	heart
43	chr1:179264600-179310200	Weak transcription	Brain Substantia Nigra	brain
44	chr1:179264600-179314000	Weak transcription	Brain Angular Gyrus	brain
45	chr1:179264600-179314000	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr1:179264800-179265400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr1:179264800-179265400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr1:179264800-179265600	Enhancers	GM12878-XiMat	blood
49	chr1:179264800-179265800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
50	chr1:179264800-179265800	Weak transcription	Fetal Kidney	kidney

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