Variant report

Variant	rs12434446
Chromosome Location	chr14:39785583-39785584
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	chr14:39735315..39738044-chr14:39785494..39787900,2	K562	blood:

Variant related genes	Relation type
ENSG00000258941	Chromatin interaction
ENSG00000258940	Chromatin interaction
ENSG00000150527	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10130584	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10130959	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.89[ASN][1000 genomes]
rs10135713	0.82[EUR][1000 genomes]
rs10142118	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10143290	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10144680	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10148678	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10148762	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10150863	0.93[ASW][hapmap];1.00[CEU][hapmap];0.94[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1040811	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10483539	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10782392	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10872919	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11157055	0.89[AMR][1000 genomes];0.90[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]
rs2025029	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2094275	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2099409	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2117338	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2274398	0.85[CEU][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2415548	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3783292	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4899219	0.82[CEU][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4899237	0.87[CHD][hapmap];1.00[JPT][hapmap]
rs4902500	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6571914	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6571916	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6571917	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]
rs6571918	0.95[EUR][1000 genomes]
rs6571934	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7140427	0.82[ASN][1000 genomes]
rs7140561	1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];0.89[ASN][1000 genomes]
rs7143289	0.89[ASN][1000 genomes]
rs7149131	1.00[JPT][hapmap]
rs7151017	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7156249	0.85[ASN][1000 genomes]
rs7158558	0.89[ASN][1000 genomes]
rs7158633	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7159584	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8010635	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8010826	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs8011855	0.93[TSI][hapmap]
rs8012235	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs8019161	1.00[CEU][hapmap];0.91[MEX][hapmap];0.93[MKK][hapmap];0.93[TSI][hapmap];0.98[AMR][1000 genomes];1.00[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:118 , 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	chr14:39752600-39808200	Weak transcription	Stomach Mucosa	stomach
3	chr14:39755600-39797200	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr14:39756000-39788600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr14:39756200-39828400	Weak transcription	Brain Germinal Matrix	brain
6	chr14:39756600-39819600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr14:39756800-39797800	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr14:39757400-39796000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr14:39757400-39843800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr14:39759400-39801800	Weak transcription	NHLF	lung
11	chr14:39762400-39801600	Weak transcription	Fetal Brain Male	brain
12	chr14:39764000-39786200	Weak transcription	Brain Substantia Nigra	brain
13	chr14:39764600-39785600	Weak transcription	Gastric	stomach
14	chr14:39764600-39785600	Weak transcription	Psoas Muscle	Psoas
15	chr14:39764600-39790000	Weak transcription	Fetal Brain Female	brain
16	chr14:39764600-39808200	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr14:39764600-39818400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr14:39764800-39802400	Weak transcription	Brain Cingulate Gyrus	brain
19	chr14:39764800-39805200	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr14:39765000-39785800	Weak transcription	Lung	lung
21	chr14:39765400-39785600	Weak transcription	Rectal Smooth Muscle	rectum
22	chr14:39765600-39789400	Weak transcription	HMEC	breast
23	chr14:39765600-39803800	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr14:39765600-39807800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr14:39766800-39790600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr14:39766800-39791800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr14:39767000-39785600	Weak transcription	Fetal Muscle Leg	muscle
28	chr14:39767000-39796000	Weak transcription	Thymus	Thymus
29	chr14:39767200-39801400	Weak transcription	Brain Hippocampus Middle	brain
30	chr14:39767200-39801600	Weak transcription	Right Ventricle	heart
31	chr14:39767200-39833800	Weak transcription	Small Intestine	intestine
32	chr14:39769600-39785600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr14:39769800-39796000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr14:39769800-39796000	Weak transcription	Dnd41	blood
35	chr14:39769800-39808000	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr14:39770000-39816400	Weak transcription	Colon Smooth Muscle	Colon
37	chr14:39770600-39786000	Weak transcription	Fetal Stomach	stomach
38	chr14:39770600-39786000	Weak transcription	Pancreas	Pancrea
39	chr14:39770600-39819800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr14:39770800-39872400	Weak transcription	Colonic Mucosa	Colon
41	chr14:39771000-39785600	Weak transcription	Fetal Lung	lung
42	chr14:39771600-39786000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr14:39771800-39789600	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr14:39771800-39791800	Weak transcription	HUVEC	blood vessel
45	chr14:39771800-39792000	Weak transcription	A549	lung
46	chr14:39771800-39796200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr14:39772000-39796200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr14:39772200-39791800	Weak transcription	HSMMtube	muscle
49	chr14:39772600-39808000	Weak transcription	Fetal Heart	heart
50	chr14:39773200-39802400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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