Variant report

Variant	rs12140378
Chromosome Location	chr1:174997750-174997751
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:174978883..174980648-chr1:174996369..174998618,2	K562	blood:
2	chr1:174996789..174998917-chr1:175115886..175117632,2	K562	blood:
3	chr1:174991178..174995675-chr1:174996166..175000159,7	K562	blood:
4	chr1:174996925..174999864-chr1:175103834..175106486,2	K562	blood:
5	chr1:174967869..174969561-chr1:174997515..175001267,3	K562	blood:
6	chr1:174997229..174999429-chr1:175092818..175094632,2	K562	blood:
7	chr1:174995889..174998745-chr1:175066579..175068389,2	K562	blood:
8	chr1:174992825..174995632-chr1:174996081..174999511,5	MCF-7	breast:
9	chr1:174997750..174999766-chr1:175188869..175190673,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000120333	Chromatin interaction
ENSG00000116161	Chromatin interaction
ENSG00000206659	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10489330	0.94[CHB][hapmap];0.81[JPT][hapmap];0.87[ASN][1000 genomes]
rs10489332	0.94[CHB][hapmap];0.81[JPT][hapmap];0.86[ASN][1000 genomes]
rs11811190	0.84[ASN][1000 genomes]
rs12737503	0.96[ASN][1000 genomes]
rs16847730	0.94[CHB][hapmap];0.94[JPT][hapmap];0.94[ASN][1000 genomes]
rs2861102	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2861106	0.83[CHB][hapmap]
rs41266060	0.85[ASN][1000 genomes]
rs41266064	0.85[ASN][1000 genomes]
rs41498747	0.83[CHB][hapmap]
rs58618779	0.84[ASN][1000 genomes]
rs60893569	0.94[ASN][1000 genomes]
rs6700434	0.83[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv947512	chr1:174984818-175000909	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
2	esv3409419	chr1:174994954-174998202	Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:174993200-174998200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr1:174993200-174998200	Weak transcription	Fetal Intestine Large	intestine
3	chr1:174993200-174998200	Weak transcription	HMEC	breast
4	chr1:174993200-174998400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr1:174993200-174998400	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr1:174993200-174998600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr1:174993200-174998600	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr1:174993200-174998600	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr1:174993200-174998600	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr1:174993200-174998800	Weak transcription	Adipose Nuclei	Adipose
11	chr1:174993200-174998800	Weak transcription	Brain Substantia Nigra	brain
12	chr1:174993200-175004800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr1:174993200-175013800	Weak transcription	Spleen	Spleen
14	chr1:174993400-174998200	Weak transcription	Fetal Intestine Small	intestine
15	chr1:174993400-174998200	Weak transcription	Pancreas	Pancrea
16	chr1:174993400-174998200	Weak transcription	HepG2	liver
17	chr1:174993400-174998400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr1:174993400-174998600	Weak transcription	Primary B cells from peripheral blood	blood
19	chr1:174993400-174998600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr1:174993400-174998600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr1:174993400-174998600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr1:174993400-174998600	Weak transcription	Fetal Thymus	thymus
23	chr1:174993400-174998600	Weak transcription	K562	blood
24	chr1:174993400-174998800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr1:174993600-174998600	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr1:174993600-174998600	Weak transcription	Dnd41	blood
27	chr1:174997000-174998600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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