Variant report

Variant	rs6571917
Chromosome Location	chr14:39778899-39778900
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	chr14:39773328..39774928-chr14:39778014..39779995,2	MCF-7	breast:

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10130584	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10130959	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.89[ASN][1000 genomes]
rs10135713	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10142118	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10143290	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10144680	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10146207	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs10148678	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10148762	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10150863	0.94[GIH][hapmap];1.00[TSI][hapmap];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1040811	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10483539	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10782392	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10872919	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11157055	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11844333	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11844337	1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap]
rs12434446	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2025029	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2094275	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs2099409	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2117338	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2274398	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2415548	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3783292	0.85[CEU][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4899219	1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4899237	0.87[CHD][hapmap];1.00[JPT][hapmap]
rs4902402	0.93[TSI][hapmap]
rs4902500	0.85[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6571914	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6571916	0.85[CEU][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6571918	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6571934	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs6571935	0.85[AFR][1000 genomes]
rs6571936	0.85[AFR][1000 genomes]
rs7140427	0.82[ASN][1000 genomes]
rs7140561	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];0.90[LWK][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs7143289	0.90[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs7145969	1.00[JPT][hapmap]
rs7149131	1.00[JPT][hapmap]
rs7151017	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7156249	0.91[AFR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7158384	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7158558	0.85[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs7158633	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7159584	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8010635	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8010826	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8011855	0.93[TSI][hapmap]
rs8012235	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs8019161	0.85[CEU][hapmap];0.93[TSI][hapmap];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9322993	0.92[TSI][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	nsv1037183	chr14:39736939-39949233	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv542048	chr14:39736939-39949233	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39738200-39813800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr14:39749400-39785400	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr14:39752600-39808200	Weak transcription	Stomach Mucosa	stomach
4	chr14:39755400-39783400	Strong transcription	Liver	Liver
5	chr14:39755600-39780400	Strong transcription	HepG2	liver
6	chr14:39755600-39797200	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr14:39756000-39788600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr14:39756200-39828400	Weak transcription	Brain Germinal Matrix	brain
9	chr14:39756600-39819600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr14:39756800-39797800	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr14:39757000-39783400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr14:39757400-39796000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr14:39757400-39843800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr14:39759400-39801800	Weak transcription	NHLF	lung
15	chr14:39762400-39801600	Weak transcription	Fetal Brain Male	brain
16	chr14:39764000-39786200	Weak transcription	Brain Substantia Nigra	brain
17	chr14:39764400-39785400	Weak transcription	Esophagus	oesophagus
18	chr14:39764600-39785600	Weak transcription	Gastric	stomach
19	chr14:39764600-39785600	Weak transcription	Psoas Muscle	Psoas
20	chr14:39764600-39790000	Weak transcription	Fetal Brain Female	brain
21	chr14:39764600-39808200	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr14:39764600-39818400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr14:39764800-39802400	Weak transcription	Brain Cingulate Gyrus	brain
24	chr14:39764800-39805200	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr14:39765000-39785800	Weak transcription	Lung	lung
26	chr14:39765400-39785600	Weak transcription	Rectal Smooth Muscle	rectum
27	chr14:39765600-39789400	Weak transcription	HMEC	breast
28	chr14:39765600-39803800	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr14:39765600-39807800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr14:39765800-39785400	Weak transcription	Brain Angular Gyrus	brain
31	chr14:39766000-39783000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr14:39766800-39790600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr14:39766800-39791800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr14:39767000-39785400	Weak transcription	Aorta	Aorta
35	chr14:39767000-39785400	Weak transcription	Ovary	ovary
36	chr14:39767000-39785400	Weak transcription	Spleen	Spleen
37	chr14:39767000-39785600	Weak transcription	Fetal Muscle Leg	muscle
38	chr14:39767000-39796000	Weak transcription	Thymus	Thymus
39	chr14:39767200-39801400	Weak transcription	Brain Hippocampus Middle	brain
40	chr14:39767200-39801600	Weak transcription	Right Ventricle	heart
41	chr14:39767200-39833800	Weak transcription	Small Intestine	intestine
42	chr14:39767400-39785200	Weak transcription	Brain Anterior Caudate	brain
43	chr14:39767600-39785400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr14:39768800-39785200	Weak transcription	NHEK	skin
45	chr14:39769600-39785600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr14:39769800-39796000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr14:39769800-39796000	Weak transcription	Dnd41	blood
48	chr14:39769800-39808000	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr14:39770000-39816400	Weak transcription	Colon Smooth Muscle	Colon
50	chr14:39770600-39783200	Weak transcription	Fetal Intestine Small	intestine

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