Variant report

Variant	rs6695403
Chromosome Location	chr1:224372935-224372936
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NR2F2	chr1:224371430-224372956	K562	blood:	n/a	n/a
2	POLR2A	chr1:224372838-224373329	GM12892	blood:	n/a	n/a
3	POLR2A	chr1:224372628-224373257	GM12878	blood:	n/a	n/a
4	MXI1	chr1:224372866-224373193	GM12878	blood:	n/a	n/a
5	ZNF263	chr1:224370149-224373239	HEK293-T-REx	kidney:	n/a	chr1:224370677-224370698 chr1:224373030-224373039
6	POLR2A	chr1:224372767-224373649	GM12878	blood:	n/a	n/a
7	POLR2A	chr1:224372796-224373418	GM12892	blood:	n/a	n/a
8	WRNIP1	chr1:224372865-224373216	GM12878	blood:	n/a	n/a
9	POLR2A	chr1:224372623-224373227	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:224300672..224304210-chr1:224370293..224374026,4	K562	blood:
2	chr1:224360308..224362774-chr1:224371769..224373334,2	K562	blood:
3	chr1:224371208..224373580-chr1:224396360..224399111,2	K562	blood:
4	chr1:224372056..224374246-chr1:224379708..224382000,2	MCF-7	breast:

Variant related genes	Relation type
DEGS1	TF binding region
ENSG00000232628	Chromatin interaction
ENSG00000143756	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11805501	1.00[AMR][1000 genomes]
rs56909406	1.00[AMR][1000 genomes]
rs59162484	1.00[AMR][1000 genomes]
rs59796677	1.00[AMR][1000 genomes]
rs7525250	0.82[AFR][1000 genomes]
rs7531983	1.00[AMR][1000 genomes]
rs7541774	1.00[AMR][1000 genomes]
rs869944	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	nsv832692	chr1:224206536-224407717	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv8857	chr1:224359943-224383023	Strong transcription Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv873223	chr1:224367232-224467117	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224370200-224373000	Active TSS	H9 Cell Line	embryonic stem cell
2	chr1:224370200-224373000	Active TSS	NHDF-Ad	bronchial
3	chr1:224370400-224373000	Active TSS	Brain Inferior Temporal Lobe	brain
4	chr1:224370400-224373000	Active TSS	NHLF	lung
5	chr1:224370400-224373200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:224370600-224373200	Active TSS	HUES48 Cell Line	embryonic stem cell
7	chr1:224370600-224373200	Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr1:224370800-224373200	Active TSS	NHEK	skin
9	chr1:224371600-224373000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
10	chr1:224371600-224373000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
11	chr1:224371600-224373400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
12	chr1:224371800-224373000	Weak transcription	Small Intestine	intestine
13	chr1:224371800-224373200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr1:224371800-224373200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr1:224371800-224373200	Flanking Active TSS	Adipose Nuclei	Adipose
16	chr1:224371800-224373600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
17	chr1:224372000-224373000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr1:224372000-224374000	Enhancers	Pancreas	Pancrea
19	chr1:224372000-224374000	Enhancers	Spleen	Spleen
20	chr1:224372200-224373000	Weak transcription	Aorta	Aorta
21	chr1:224372200-224373200	Enhancers	Colonic Mucosa	Colon
22	chr1:224372200-224373400	Enhancers	Psoas Muscle	Psoas
23	chr1:224372200-224373400	Weak transcription	Stomach Mucosa	stomach
24	chr1:224372200-224373600	Active TSS	iPS-18 Cell Line	embryonic stem cell
25	chr1:224372200-224373600	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr1:224372200-224373800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr1:224372200-224374000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr1:224372200-224374000	Enhancers	Right Ventricle	heart
29	chr1:224372200-224374200	Enhancers	Primary B cells from cord blood	blood
30	chr1:224372200-224374400	Enhancers	Gastric	stomach
31	chr1:224372200-224375000	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr1:224372200-224377200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
33	chr1:224372200-224377400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
34	chr1:224372200-224377400	Weak transcription	Fetal Intestine Large	intestine
35	chr1:224372400-224373000	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr1:224372400-224373000	Enhancers	Lung	lung
37	chr1:224372400-224373000	Enhancers	Rectal Mucosa Donor 29	rectum
38	chr1:224372400-224373200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr1:224372400-224373200	Enhancers	Primary T cells from cord blood	blood
40	chr1:224372400-224373200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr1:224372400-224373200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr1:224372400-224373200	Enhancers	Brain Substantia Nigra	brain
43	chr1:224372400-224373200	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr1:224372400-224373400	Enhancers	Brain Cingulate Gyrus	brain
45	chr1:224372400-224373400	Enhancers	Fetal Muscle Trunk	muscle
46	chr1:224372400-224373400	Weak transcription	A549	lung
47	chr1:224372400-224373600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr1:224372400-224373800	Enhancers	H1 Cell Line	embryonic stem cell
49	chr1:224372400-224373800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
50	chr1:224372400-224373800	Enhancers	Brain Hippocampus Middle	brain

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