Variant report

Variant	rs4501868
Chromosome Location	chr1:247481583-247481584
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:247479235..247481801-chr1:247485562..247488525,3	K562	blood:
2	chr1:247473800..247482682-chr1:247490121..247498423,19	K562	blood:
3	chr1:247480078..247482500-chr1:247493800..247495690,2	MCF-7	breast:
4	chr1:247474674..247478504-chr1:247479189..247482346,3	K562	blood:
5	chr1:247457412..247459829-chr1:247480298..247481865,2	K562	blood:
6	chr1:247481131..247482896-chr1:247485976..247487995,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000162714	Chromatin interaction
ENSG00000202079	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1057996	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10732300	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10924980	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10924984	1.00[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1192835	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs1192836	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs12239714	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs1771923	1.00[CEU][hapmap]
rs1771944	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs1771945	1.00[CEU][hapmap];0.89[YRI][hapmap];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1771946	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1778534	1.00[CEU][hapmap]
rs1778548	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1891074	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2799179	0.87[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4925535	1.00[ASN][1000 genomes]
rs56322743	1.00[ASN][1000 genomes]
rs6657577	1.00[CEU][hapmap];0.82[YRI][hapmap];1.00[ASN][1000 genomes]
rs7517006	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005208	chr1:247037441-247597975	Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	esv3411043	chr1:247382851-247517729	Genic enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	n/a
3	esv3378684	chr1:247382994-247518438	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	n/a
4	nsv833137	chr1:247437317-247607428	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:247456000-247493400	Weak transcription	Right Atrium	heart
2	chr1:247459800-247485800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr1:247460400-247493400	Strong transcription	Fetal Muscle Leg	muscle
4	chr1:247460800-247491800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
5	chr1:247460800-247493400	Strong transcription	Fetal Muscle Trunk	muscle
6	chr1:247461000-247485400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr1:247461200-247485400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr1:247461200-247488200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr1:247461400-247485400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr1:247461400-247493800	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr1:247462800-247488000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr1:247463000-247486200	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr1:247463000-247486400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr1:247463000-247493600	Strong transcription	HUES6 Cell Line	embryonic stem cell
15	chr1:247463200-247493400	Strong transcription	HUES48 Cell Line	embryonic stem cell
16	chr1:247463400-247486000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr1:247463400-247486600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
18	chr1:247464600-247486000	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr1:247464800-247493400	Strong transcription	Fetal Stomach	stomach
20	chr1:247465200-247493400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr1:247466800-247485600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr1:247467600-247493800	Weak transcription	Stomach Mucosa	stomach
23	chr1:247468400-247494000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr1:247469000-247493600	Weak transcription	Psoas Muscle	Psoas
25	chr1:247469400-247493800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr1:247471200-247485600	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr1:247471800-247493400	Weak transcription	Fetal Heart	heart
28	chr1:247472400-247483600	Weak transcription	Fetal Brain Male	brain
29	chr1:247472600-247484400	Weak transcription	Colon Smooth Muscle	Colon
30	chr1:247472800-247482800	Weak transcription	Fetal Kidney	kidney
31	chr1:247472800-247493400	Weak transcription	Small Intestine	intestine
32	chr1:247473000-247485400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr1:247473000-247485600	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr1:247473400-247483600	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr1:247473400-247484800	Weak transcription	Colonic Mucosa	Colon
36	chr1:247473400-247484800	Weak transcription	Rectal Smooth Muscle	rectum
37	chr1:247473400-247485200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr1:247473600-247483400	Weak transcription	Brain Substantia Nigra	brain
39	chr1:247473800-247482600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr1:247473800-247483000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr1:247473800-247483400	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr1:247473800-247485000	Weak transcription	HSMMtube	muscle
43	chr1:247474000-247483400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr1:247474000-247484200	Weak transcription	Brain Anterior Caudate	brain
45	chr1:247474000-247485000	Weak transcription	Esophagus	oesophagus
46	chr1:247474000-247488200	Weak transcription	Gastric	stomach
47	chr1:247474600-247485000	Weak transcription	HUVEC	blood vessel
48	chr1:247476400-247481800	Strong transcription	H1 Cell Line	embryonic stem cell
49	chr1:247476600-247486600	Strong transcription	HepG2	liver
50	chr1:247476600-247491400	Strong transcription	Dnd41	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links