Variant report

Variant	rs57704430
Chromosome Location	chr2:39977386-39977387
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:39975048..39977790-chr2:39997360..39998912,2	K562	blood:
2	chr2:39971834..39974291-chr2:39976414..39978177,2	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10198734	1.00[EUR][1000 genomes]
rs13395966	1.00[EUR][1000 genomes]
rs17024154	0.96[EUR][1000 genomes]
rs17024276	0.96[EUR][1000 genomes]
rs17024299	1.00[EUR][1000 genomes]
rs17024307	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17024325	1.00[EUR][1000 genomes]
rs2058621	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2110672	1.00[EUR][1000 genomes]
rs2110673	1.00[EUR][1000 genomes]
rs2160207	1.00[EUR][1000 genomes]
rs2192712	1.00[EUR][1000 genomes]
rs2540234	0.84[EUR][1000 genomes]
rs2716706	1.00[EUR][1000 genomes]
rs2716724	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2716726	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2716734	1.00[EUR][1000 genomes]
rs60003713	1.00[EUR][1000 genomes]
rs6708232	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6716262	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6745129	1.00[EUR][1000 genomes]
rs73924911	0.80[AFR][1000 genomes]
rs73924913	0.80[AFR][1000 genomes]
rs73924917	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73924918	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73924919	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73924920	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73924934	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7576551	0.88[EUR][1000 genomes]
rs7604790	1.00[EUR][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	nsv833870	chr2:39837022-40026024	Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv833881	chr2:39914558-40067256	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv873890	chr2:39976810-40009041	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:39960200-39987200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr2:39960400-39983000	Weak transcription	Stomach Mucosa	stomach
3	chr2:39961400-39984200	Weak transcription	Colonic Mucosa	Colon
4	chr2:39962200-39986800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr2:39962200-39993200	Strong transcription	Liver	Liver
6	chr2:39962800-39980200	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr2:39963200-39982000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr2:39964200-39977400	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr2:39964200-39984200	Weak transcription	Psoas Muscle	Psoas
10	chr2:39964800-39983000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr2:39965200-39980000	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr2:39965200-39983000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr2:39965200-40005000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:39965200-40005400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr2:39965400-39984200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr2:39966800-39980000	Weak transcription	Esophagus	oesophagus
17	chr2:39966800-39980200	Weak transcription	Lung	lung
18	chr2:39966800-39983200	Weak transcription	Spleen	Spleen
19	chr2:39967000-39981000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr2:39967000-39983000	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr2:39967000-39983200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr2:39967000-39983400	Weak transcription	Aorta	Aorta
23	chr2:39967200-39983000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr2:39967600-39991200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr2:39969800-39999800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr2:39970200-39978200	Weak transcription	GM12878-XiMat	blood
27	chr2:39970800-39983000	Weak transcription	Brain Hippocampus Middle	brain
28	chr2:39971000-39980000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr2:39971000-39980000	Weak transcription	Left Ventricle	heart
30	chr2:39971000-39983000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr2:39971000-39983000	Weak transcription	Colon Smooth Muscle	Colon
32	chr2:39971000-39999800	Weak transcription	Right Ventricle	heart
33	chr2:39971200-39978600	Strong transcription	Muscle Satellite Cultured Cells	--
34	chr2:39971400-39982400	Strong transcription	HSMM	muscle
35	chr2:39971600-39981000	Weak transcription	HUVEC	blood vessel
36	chr2:39971600-39998800	Strong transcription	HUES64 Cell Line	embryonic stem cell
37	chr2:39971800-39980400	Weak transcription	NHLF	lung
38	chr2:39972200-39982400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr2:39972400-39998600	Strong transcription	HMEC	breast
40	chr2:39972400-39998800	Strong transcription	Monocytes-CD14+_RO01746	blood
41	chr2:39972800-39978000	Weak transcription	Hela-S3	cervix
42	chr2:39973000-39998800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr2:39973600-39983000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr2:39973600-39983600	Weak transcription	Pancreas	Pancrea
45	chr2:39974000-39979800	Weak transcription	NHEK	skin
46	chr2:39974200-39998600	Strong transcription	HUES48 Cell Line	embryonic stem cell
47	chr2:39974600-39994000	Strong transcription	Fetal Thymus	thymus
48	chr2:39975000-39978600	Strong transcription	Primary T cells from cord blood	blood
49	chr2:39975000-39981400	Strong transcription	Duodenum Smooth Muscle	Duodenum
50	chr2:39975000-39998400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links