Variant report

Variant	rs6690225
Chromosome Location	chr1:93810103-93810104
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF384	chr1:93810068-93810277	K562	blood:	n/a	n/a
2	POLR2A	chr1:93809864-93810239	K562	blood:	n/a	n/a
3	POLR2A	chr1:93810068-93810358	ECC-1	luminal epithelium:	n/a	n/a
4	POLR2A	chr1:93810018-93812604	K562	blood:	n/a	n/a
5	HEY1	chr1:93810079-93810350	K562	blood:	n/a	n/a
6	POLR2A	chr1:93809937-93810316	HepG2	liver:	n/a	n/a
7	POLR2A	chr1:93810102-93812501	GM19193	blood:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:93645217..93647483-chr1:93810016..93813905,4	K562	blood:
2	chr1:93809720..93812337-chr1:93819779..93821758,3	MCF-7	breast:
3	chr1:93808671..93811295-chr1:93877752..93880547,2	K562	blood:
4	chr1:93797417..93800568-chr1:93809783..93813173,3	K562	blood:
5	chr1:93809887..93810719-chr7:65958551..65959184,2	HCT-116	colon:
6	chr1:93809215..93811545-chr1:94343496..94345279,2	K562	blood:
7	chr1:93808883..93811348-chr1:94310727..94314254,3	K562	blood:
8	chr1:93788744..93790531-chr1:93809891..93812646,2	MCF-7	breast:
9	chr1:93789215..93790995-chr1:93809839..93812682,2	K562	blood:
10	chr1:93809028..93811337-chr1:93912492..93915349,2	K562	blood:
11	chr1:93802856..93806356-chr1:93809825..93812242,3	MCF-7	breast:

No data

Variant related genes	Relation type
DR1	TF binding region
ENSG00000223745	TF binding region
ENSG00000237310	Chromatin interaction
ENSG00000067334	Chromatin interaction
ENSG00000122483	Chromatin interaction
ENSG00000137936	Chromatin interaction
ENSG00000137942	Chromatin interaction
ENSG00000117505	Chromatin interaction
ENSG00000211575	Chromatin interaction
ENSG00000223745	Chromatin interaction
ENSG00000260464	Chromatin interaction
ENSG00000117500	Chromatin interaction
ENSG00000223473	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10874767	1.00[ASN][1000 genomes]
rs11164888	1.00[ASN][1000 genomes]
rs11164889	1.00[ASN][1000 genomes]
rs11164890	1.00[ASN][1000 genomes]
rs1323627	1.00[ASN][1000 genomes]
rs1535700	1.00[ASN][1000 genomes]
rs3754187	1.00[EUR][1000 genomes]
rs3767965	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs488646	0.84[ASN][1000 genomes]
rs61745894	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs626714	1.00[ASN][1000 genomes]
rs6657587	1.00[ASN][1000 genomes]
rs6658017	1.00[EUR][1000 genomes]
rs6667701	1.00[ASN][1000 genomes]
rs6667727	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6670332	1.00[EUR][1000 genomes]
rs72482825	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7514162	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7527424	1.00[EUR][1000 genomes]
rs7527559	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7550868	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7550887	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv871640	chr1:93807122-93953469	Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93789200-93810200	Weak transcription	Esophagus	oesophagus
2	chr1:93794400-93810600	Weak transcription	Fetal Brain Male	brain
3	chr1:93795000-93810600	Weak transcription	Fetal Brain Female	brain
4	chr1:93797200-93810600	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr1:93799000-93810600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr1:93800400-93810200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr1:93801400-93810600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr1:93801800-93810600	Weak transcription	Brain Germinal Matrix	brain
9	chr1:93802200-93810600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr1:93802400-93810200	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr1:93802600-93811000	Weak transcription	Spleen	Spleen
12	chr1:93803400-93810600	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr1:93804200-93810800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr1:93804800-93810400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr1:93804800-93810400	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr1:93804800-93810400	Weak transcription	Stomach Smooth Muscle	stomach
17	chr1:93804800-93810400	Weak transcription	NHLF	lung
18	chr1:93804800-93810600	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr1:93804800-93810800	Weak transcription	Aorta	Aorta
20	chr1:93804800-93810800	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr1:93805000-93810200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr1:93805000-93810200	Weak transcription	Liver	Liver
23	chr1:93805000-93810200	Weak transcription	Placenta	Placenta
24	chr1:93805000-93810400	Weak transcription	Adipose Nuclei	Adipose
25	chr1:93805000-93810400	Weak transcription	Lung	lung
26	chr1:93805000-93810400	Weak transcription	HSMMtube	muscle
27	chr1:93805000-93810600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr1:93805000-93810600	Weak transcription	Brain Angular Gyrus	brain
29	chr1:93805000-93810600	Weak transcription	Brain Cingulate Gyrus	brain
30	chr1:93805000-93810600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr1:93805000-93810600	Weak transcription	Duodenum Mucosa	Duodenum
32	chr1:93805000-93810600	Weak transcription	Fetal Kidney	kidney
33	chr1:93805000-93810600	Weak transcription	Fetal Stomach	stomach
34	chr1:93805000-93810600	Weak transcription	Ovary	ovary
35	chr1:93805200-93810200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr1:93805200-93810200	Weak transcription	Fetal Muscle Leg	muscle
37	chr1:93805200-93810200	Weak transcription	Monocytes-CD14+_RO01746	blood
38	chr1:93805200-93810400	Weak transcription	A549	lung
39	chr1:93805200-93810600	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr1:93805200-93810600	Weak transcription	Brain Substantia Nigra	brain
41	chr1:93805200-93810600	Weak transcription	Fetal Muscle Trunk	muscle
42	chr1:93805200-93810600	Weak transcription	Left Ventricle	heart
43	chr1:93805200-93810600	Weak transcription	Stomach Mucosa	stomach
44	chr1:93805200-93810600	Weak transcription	NH-A	brain
45	chr1:93805800-93810600	Enhancers	Primary T cells from cord blood	blood
46	chr1:93806200-93810200	Enhancers	Primary T helper cells fromperipheralblood	blood
47	chr1:93806600-93810400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr1:93806600-93810400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr1:93806800-93810400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr1:93806800-93810400	Weak transcription	Osteobl	bone

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links