Variant report

Variant	rs7152283
Chromosome Location	chr14:105764099-105764100
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	chr14:105761699..105764164-chr14:105811215..105812836,2	MCF-7	breast:
2	chr14:105757386..105760349-chr14:105763067..105764806,2	K562	blood:

Extended variants
information (count: 97 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs1008628	0.86[ASN][1000 genomes]
rs10140586	0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10151638	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10162524	0.81[ASN][1000 genomes]
rs11622166	0.89[ASN][1000 genomes]
rs11624880	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11624902	0.81[ASN][1000 genomes]
rs11624929	0.81[ASN][1000 genomes]
rs11625098	0.89[ASN][1000 genomes]
rs11626001	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11850055	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2245329	0.86[ASN][1000 genomes]
rs2255575	0.88[ASN][1000 genomes]
rs2735809	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2735812	0.88[ASN][1000 genomes]
rs2735816	0.86[ASN][1000 genomes]
rs2735818	0.84[ASN][1000 genomes]
rs2735824	0.86[ASN][1000 genomes]
rs2735828	0.86[ASN][1000 genomes]
rs2735831	0.81[ASN][1000 genomes]
rs2735832	0.89[ASN][1000 genomes]
rs2816608	0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2816609	0.82[ASN][1000 genomes]
rs2816611	0.86[ASN][1000 genomes]
rs2816616	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2816617	0.81[ASN][1000 genomes]
rs2816618	0.81[ASN][1000 genomes]
rs2816619	0.81[ASN][1000 genomes]
rs2816620	0.81[ASN][1000 genomes]
rs2816621	0.81[ASN][1000 genomes]
rs2816622	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2816623	0.81[ASN][1000 genomes]
rs2816624	0.81[ASN][1000 genomes]
rs2816625	0.81[ASN][1000 genomes]
rs2816626	0.81[ASN][1000 genomes]
rs2816627	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2816628	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2816629	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2816631	0.81[ASN][1000 genomes]
rs2816632	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2816635	0.81[ASN][1000 genomes]
rs2816649	0.83[ASN][1000 genomes]
rs2816653	0.86[ASN][1000 genomes]
rs28489970	0.89[ASN][1000 genomes]
rs28594491	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28625632	0.89[ASN][1000 genomes]
rs28818248	0.88[ASN][1000 genomes]
rs28822720	0.93[ASN][1000 genomes]
rs28846738	0.93[ASN][1000 genomes]
rs2975216	0.86[ASN][1000 genomes]
rs3000073	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3000075	0.86[ASN][1000 genomes]
rs3803319	0.89[ASN][1000 genomes]
rs3825762	0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4277291	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4334224	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4412909	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4555082	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4677	0.86[ASN][1000 genomes]
rs55883508	0.89[ASN][1000 genomes]
rs56034563	0.89[ASN][1000 genomes]
rs56263609	0.89[ASN][1000 genomes]
rs58528939	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6576081	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs66527719	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs66777564	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7146012	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7146643	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7146683	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7148186	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7149013	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7153832	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7154463	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs760270	0.81[ASN][1000 genomes]
rs8015973	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8022526	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1828345	chr14:105100787-105803170	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
2	nsv542225	chr14:105133688-105803170	Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
3	nsv542227	chr14:105157572-105803170	Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	147 gene(s)	inside rSNPs	diseases
4	nsv917106	chr14:105339195-105803170	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
5	nsv902422	chr14:105420215-105803170	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
6	nsv902423	chr14:105430890-105803170	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
7	nsv902424	chr14:105436222-105803170	Genic enhancers Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
8	esv2758369	chr14:105513346-105803170	Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
9	esv2760014	chr14:105513346-105803170	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
10	nsv902441	chr14:105602619-105803170	Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
11	nsv902442	chr14:105602619-105803170	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
12	esv1817919	chr14:105605199-105803170	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
13	nsv530813	chr14:105607701-106453697	Strong transcription Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	149 gene(s)	inside rSNPs	diseases
14	nsv566186	chr14:105675701-105779305	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
15	nsv902466	chr14:105704465-105803170	Active TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
16	esv29986	chr14:105707292-105803170	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
17	nsv832887	chr14:105717339-105803170	Strong transcription Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
18	nsv832888	chr14:105717339-105803170	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
19	nsv1049929	chr14:105718240-105772037	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
20	nsv1052355	chr14:105718240-105789157	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases
21	nsv566187	chr14:105756485-105780704	Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7152283	BTBD6	cis	Artery Tibial	GTEx

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105715800-105766000	Weak transcription	Fetal Kidney	kidney
2	chr14:105739800-105765800	Weak transcription	NHEK	skin
3	chr14:105742200-105765600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr14:105742200-105765800	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr14:105744600-105766000	Weak transcription	HSMMtube	muscle
6	chr14:105747000-105765600	Weak transcription	Colonic Mucosa	Colon
7	chr14:105747000-105766000	Weak transcription	Aorta	Aorta
8	chr14:105747200-105765600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr14:105748200-105765800	Weak transcription	HMEC	breast
10	chr14:105748600-105765800	Weak transcription	A549	lung
11	chr14:105749600-105766200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr14:105750800-105764800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr14:105753400-105766200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr14:105755800-105765600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr14:105759600-105766000	Weak transcription	Small Intestine	intestine
16	chr14:105759800-105765800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr14:105760000-105765800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr14:105760200-105765600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr14:105760800-105764600	Weak transcription	Ovary	ovary
20	chr14:105760800-105765400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr14:105760800-105765600	Weak transcription	Duodenum Mucosa	Duodenum
22	chr14:105760800-105765800	Weak transcription	Psoas Muscle	Psoas
23	chr14:105760800-105765800	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr14:105760800-105766000	Weak transcription	HSMM	muscle
25	chr14:105760800-105766200	Weak transcription	Esophagus	oesophagus
26	chr14:105761000-105764600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr14:105761000-105764800	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr14:105761000-105765400	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr14:105761000-105765600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr14:105761000-105765600	Weak transcription	Liver	Liver
31	chr14:105761000-105765800	Weak transcription	Fetal Brain Male	brain
32	chr14:105761000-105765800	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr14:105761000-105765800	Weak transcription	NH-A	brain
34	chr14:105761000-105766000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr14:105761000-105766000	Weak transcription	Gastric	stomach
36	chr14:105761000-105766200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr14:105761200-105764400	Weak transcription	HepG2	liver
38	chr14:105761200-105765000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr14:105761200-105765600	Weak transcription	Fetal Brain Female	brain
40	chr14:105761200-105765600	Weak transcription	Stomach Smooth Muscle	stomach
41	chr14:105761200-105765600	Weak transcription	Osteobl	bone
42	chr14:105761200-105765800	Weak transcription	Rectal Smooth Muscle	rectum
43	chr14:105761400-105765400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr14:105761400-105765800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr14:105761400-105765800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr14:105761400-105765800	Weak transcription	Brain Angular Gyrus	brain
47	chr14:105761400-105765800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr14:105761400-105765800	Weak transcription	Fetal Lung	lung
49	chr14:105761600-105764400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr14:105761600-105764600	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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