Variant report

Variant	rs1437673
Chromosome Location	chr2:113302268-113302269
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:113300113..113302309-chr2:113304266..113305973,2	MCF-7	breast:
2	chr2:113302234..113303949-chr2:113316673..113319287,3	MCF-7	breast:
3	chr2:113298569..113302646-chr2:113339335..113343133,7	K562	blood:
4	chr2:113296892..113302637-chr2:113340004..113344909,8	K562	blood:
5	chr2:113297047..113302352-chr2:113483159..113487384,5	K562	blood:
6	chr2:113299867..113302656-chr2:113306781..113308489,3	MCF-7	breast:
7	chr2:112640408..112642506-chr2:113299856..113302341,2	K562	blood:
8	chr2:113235916..113241390-chr2:113298151..113302275,12	MCF-7	breast:
9	chr2:113298954..113302477-chr2:113339455..113343767,5	MCF-7	breast:
10	chr2:113235572..113240260-chr2:113300212..113305167,6	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000125611	Chromatin interaction
ENSG00000144130	Chromatin interaction
ENSG00000153107	Chromatin interaction
ENSG00000114999	Chromatin interaction
ENSG00000125630	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10153558	0.95[CHB][hapmap];0.83[ASN][1000 genomes]
rs10153801	0.96[CEU][hapmap];0.95[CHB][hapmap];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10864905	0.91[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs11123137	0.83[CEU][hapmap]
rs11123139	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11123140	0.81[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs11123141	0.81[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs11675730	1.00[ASN][1000 genomes]
rs11676962	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11677050	0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs11689338	0.95[ASN][1000 genomes]
rs11899598	0.88[CEU][hapmap]
rs12618629	0.87[ASN][1000 genomes]
rs12618882	0.96[ASN][1000 genomes]
rs13015669	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13030618	0.84[CEU][hapmap]
rs1437675	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1545133	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1595388	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17043158	0.88[CEU][hapmap]
rs17043167	0.88[CEU][hapmap]
rs2304555	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35832933	0.86[ASN][1000 genomes]
rs3789723	0.96[ASN][1000 genomes]
rs3816140	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3816141	0.86[CHB][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs3961775	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs3980067	0.82[ASN][1000 genomes]
rs41278940	0.99[ASN][1000 genomes]
rs41280572	0.91[ASN][1000 genomes]
rs4849072	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4849073	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4849074	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4849075	0.96[ASN][1000 genomes]
rs4849076	0.99[ASN][1000 genomes]
rs56081241	0.91[ASN][1000 genomes]
rs60703755	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6717635	0.89[CEU][hapmap]
rs719668	0.82[YRI][hapmap]
rs7568539	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7569407	0.84[CEU][hapmap]
rs7578724	0.91[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs7607358	0.92[ASN][1000 genomes]

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	nsv949573	chr2:112986955-113320975	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv874877	chr2:113287964-113382054	Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1437673	TTL	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113298600-113303600	Active TSS	GM12878-XiMat	blood
2	chr2:113299400-113302400	Active TSS	Hela-S3	cervix
3	chr2:113301000-113304600	Weak transcription	Aorta	Aorta
4	chr2:113301200-113302800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr2:113301200-113303800	Weak transcription	Brain Substantia Nigra	brain
6	chr2:113301200-113304400	Weak transcription	Colonic Mucosa	Colon
7	chr2:113301200-113304600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr2:113301200-113304600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr2:113301200-113304600	Weak transcription	Fetal Stomach	stomach
10	chr2:113301200-113304600	Weak transcription	Right Ventricle	heart
11	chr2:113301200-113305000	Weak transcription	NH-A	brain
12	chr2:113301200-113307200	Weak transcription	HSMMtube	muscle
13	chr2:113301200-113340200	Weak transcription	Right Atrium	heart
14	chr2:113301200-113341000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr2:113301400-113302400	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr2:113301400-113302400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr2:113301400-113302800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr2:113301400-113303200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr2:113301400-113303600	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr2:113301400-113303600	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr2:113301400-113304400	Weak transcription	Brain Cingulate Gyrus	brain
22	chr2:113301400-113304600	Weak transcription	Rectal Smooth Muscle	rectum
23	chr2:113301400-113304600	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr2:113301400-113304600	Weak transcription	Thymus	Thymus
25	chr2:113301400-113304800	Weak transcription	Colon Smooth Muscle	Colon
26	chr2:113301400-113304800	Weak transcription	Fetal Kidney	kidney
27	chr2:113301400-113308800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr2:113301400-113308800	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr2:113301400-113310000	Weak transcription	Primary neutrophils fromperipheralblood	blood
30	chr2:113301400-113326200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr2:113301600-113302600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr2:113301600-113302600	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr2:113301600-113302600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr2:113301600-113302800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
35	chr2:113301600-113303000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr2:113301600-113303000	Weak transcription	Primary T cells from cord blood	blood
37	chr2:113301600-113303000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
38	chr2:113301600-113303200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr2:113301600-113303400	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr2:113301600-113303400	Weak transcription	Fetal Intestine Large	intestine
41	chr2:113301600-113303600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr2:113301600-113303600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr2:113301600-113303600	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr2:113301600-113303600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr2:113301600-113303600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr2:113301600-113303600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr2:113301600-113303600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr2:113301600-113303600	Weak transcription	Liver	Liver
49	chr2:113301600-113303600	Weak transcription	Brain Germinal Matrix	brain
50	chr2:113301600-113303600	Weak transcription	Brain Hippocampus Middle	brain

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