Variant report

Variant	rs1040612
Chromosome Location	chr14:65081553-65081554
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:65006053..65008076-chr14:65080639..65082314,2	MCF-7	breast:
2	chr14:65080752..65082914-chr14:65086565..65088174,2	MCF-7	breast:
3	chr14:65075964..65078497-chr14:65081100..65083925,4	MCF-7	breast:
4	chr14:65079771..65082813-chr14:65085172..65087680,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000126803	Chromatin interaction
ENSG00000259116	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10138919	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10431708	0.84[EUR][1000 genomes]
rs10498515	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[CHD][hapmap];0.92[JPT][hapmap];0.88[MEX][hapmap];0.88[TSI][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10873175	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11158546	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1256146	0.88[CEU][hapmap];0.84[TSI][hapmap];0.82[EUR][1000 genomes]
rs1256150	0.85[EUR][1000 genomes]
rs12589307	0.92[JPT][hapmap];0.83[ASN][1000 genomes]
rs12589322	1.00[CEU][hapmap];0.84[CHB][hapmap];0.92[JPT][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12894050	0.94[EUR][1000 genomes]
rs12894807	1.00[CEU][hapmap];0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1453005	0.84[EUR][1000 genomes]
rs2038270	0.93[ASW][hapmap];1.00[CEU][hapmap];0.84[CHB][hapmap];0.96[CHD][hapmap];0.92[JPT][hapmap];0.82[LWK][hapmap];0.84[MKK][hapmap];0.95[TSI][hapmap];0.95[YRI][hapmap];0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2038273	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2123461	0.86[CHD][hapmap];0.92[JPT][hapmap];0.83[ASN][1000 genomes]
rs2218994	0.88[CEU][hapmap];0.84[EUR][1000 genomes]
rs34616731	0.82[EUR][1000 genomes]
rs4902288	0.85[EUR][1000 genomes]
rs4902295	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902296	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902297	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902298	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902299	0.84[CHB][hapmap]
rs4902304	0.80[ASW][hapmap];0.94[MEX][hapmap]
rs7141346	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7148289	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7149152	0.88[CEU][hapmap];0.84[TSI][hapmap];0.86[EUR][1000 genomes]
rs7156953	0.87[CEU][hapmap];0.81[TSI][hapmap];0.86[EUR][1000 genomes]
rs7159809	1.00[CEU][hapmap];0.84[CHB][hapmap];0.92[JPT][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs761547	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8003734	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8007313	0.87[ASW][hapmap];0.82[LWK][hapmap];0.95[YRI][hapmap]
rs8016170	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8016361	0.88[CEU][hapmap];0.84[TSI][hapmap];0.86[EUR][1000 genomes]
rs8017407	1.00[CEU][hapmap];0.84[CHB][hapmap];0.96[CHD][hapmap];0.92[JPT][hapmap];0.95[TSI][hapmap];0.83[YRI][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8018169	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8022447	0.88[CEU][hapmap];0.84[TSI][hapmap];0.84[EUR][1000 genomes]
rs926802	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[CHD][hapmap];0.92[JPT][hapmap];0.94[MEX][hapmap];0.88[TSI][hapmap];0.83[YRI][hapmap];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9671381	1.00[CEU][hapmap];0.84[CHB][hapmap];0.92[JPT][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs971736	0.84[CHB][hapmap]

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	nsv1049097	chr14:65027753-65202018	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65074000-65081600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr14:65077200-65082000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr14:65077400-65085400	Weak transcription	Placenta	Placenta
4	chr14:65077600-65082400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr14:65078200-65082000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr14:65078600-65081600	Weak transcription	HepG2	liver
7	chr14:65078800-65081800	Weak transcription	Adipose Nuclei	Adipose
8	chr14:65079200-65081800	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr14:65079200-65084800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr14:65079400-65081600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr14:65079400-65081600	Weak transcription	NH-A	brain
12	chr14:65079400-65081800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr14:65079400-65082000	Enhancers	Fetal Stomach	stomach
14	chr14:65079600-65081600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr14:65079600-65085600	Weak transcription	Spleen	Spleen
16	chr14:65079600-65085800	Weak transcription	A549	lung
17	chr14:65079600-65086200	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr14:65079600-65093800	Weak transcription	Right Atrium	heart
19	chr14:65079800-65081800	Weak transcription	Osteobl	bone
20	chr14:65079800-65085600	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr14:65080000-65082000	Enhancers	Brain Cingulate Gyrus	brain
22	chr14:65080200-65081600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr14:65080200-65082000	Enhancers	Brain Inferior Temporal Lobe	brain
24	chr14:65080200-65082200	Enhancers	Colon Smooth Muscle	Colon
25	chr14:65080200-65082400	Enhancers	Brain Hippocampus Middle	brain
26	chr14:65080200-65086000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr14:65080400-65081800	Enhancers	Duodenum Smooth Muscle	Duodenum
28	chr14:65080400-65082000	Enhancers	Brain Anterior Caudate	brain
29	chr14:65080600-65081800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
30	chr14:65080800-65081800	Weak transcription	Fetal Heart	heart
31	chr14:65080800-65082400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr14:65081000-65081600	Enhancers	Fetal Lung	lung
33	chr14:65081000-65081800	Enhancers	Rectal Smooth Muscle	rectum
34	chr14:65081000-65082000	Enhancers	Skeletal Muscle Male	skeletal muscle
35	chr14:65081000-65082000	Enhancers	NHLF	lung
36	chr14:65081000-65082200	Enhancers	Brain Substantia Nigra	brain
37	chr14:65081200-65081600	Weak transcription	Stomach Smooth Muscle	stomach
38	chr14:65081200-65081800	Enhancers	Fetal Intestine Large	intestine
39	chr14:65081200-65082000	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr14:65081200-65082000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr14:65081200-65082000	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr14:65081200-65082400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr14:65081200-65082600	Enhancers	Hela-S3	cervix
44	chr14:65081400-65081600	Enhancers	Sigmoid Colon	Sigmoid Colon
45	chr14:65081400-65081800	Enhancers	Brain Angular Gyrus	brain
46	chr14:65081400-65081800	Enhancers	Left Ventricle	heart
47	chr14:65081400-65082000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr14:65081400-65082000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr14:65081400-65082000	Enhancers	HSMM	muscle
50	chr14:65081400-65082200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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