Variant report

Variant	rs4555082
Chromosome Location	chr14:105758964-105758965
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:105744465..105746364-chr14:105757622..105759323,2	K562	blood:
2	chr14:105752514..105755267-chr14:105755916..105759509,5	MCF-7	breast:
3	chr14:105757651..105762678-chr14:105764586..105768491,12	MCF-7	breast:
4	chr14:105757386..105760349-chr14:105763067..105764806,2	K562	blood:
5	chr14:105753212..105757197-chr14:105757375..105761720,4	MCF-7	breast:
6	chr14:105754932..105761514-chr14:105765400..105769480,11	MCF-7	breast:

Variant related genes	Relation type
ENSG00000185024	Chromatin interaction
ENSG00000179364	Chromatin interaction

Extended variants
information (count: 118 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:97)

rs_ID	r²[population]
rs1008628	0.80[ASN][1000 genomes]
rs10140586	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10151638	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11622166	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11624880	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11624902	0.91[ASN][1000 genomes]
rs11624929	0.91[ASN][1000 genomes]
rs11625098	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11626001	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11850055	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1473672	0.89[ASN][1000 genomes]
rs1882846	0.89[ASN][1000 genomes]
rs2015978	0.89[ASN][1000 genomes]
rs2142190	0.89[ASN][1000 genomes]
rs2245329	0.80[ASN][1000 genomes]
rs2255171	0.81[ASN][1000 genomes]
rs2255575	0.80[ASN][1000 genomes]
rs2735809	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2735812	0.80[ASN][1000 genomes]
rs2735816	0.80[ASN][1000 genomes]
rs2735817	0.89[ASN][1000 genomes]
rs2735819	0.89[ASN][1000 genomes]
rs2735820	0.89[ASN][1000 genomes]
rs2735822	0.89[ASN][1000 genomes]
rs2735824	0.80[ASN][1000 genomes]
rs2735825	0.89[ASN][1000 genomes]
rs2735826	0.89[ASN][1000 genomes]
rs2735827	0.89[ASN][1000 genomes]
rs2735828	0.80[ASN][1000 genomes]
rs2735829	0.86[ASN][1000 genomes]
rs2735831	0.91[ASN][1000 genomes]
rs2735832	0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2816605	0.87[ASN][1000 genomes]
rs2816606	0.89[ASN][1000 genomes]
rs2816607	0.89[ASN][1000 genomes]
rs2816608	0.85[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2816610	0.89[ASN][1000 genomes]
rs2816611	0.80[ASN][1000 genomes]
rs2816612	0.89[ASN][1000 genomes]
rs2816613	0.89[ASN][1000 genomes]
rs2816614	0.89[ASN][1000 genomes]
rs2816615	0.89[ASN][1000 genomes]
rs2816616	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2816617	0.91[ASN][1000 genomes]
rs2816618	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2816619	0.91[ASN][1000 genomes]
rs2816620	0.91[ASN][1000 genomes]
rs2816621	0.91[ASN][1000 genomes]
rs2816622	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2816623	0.91[ASN][1000 genomes]
rs2816624	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2816625	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2816626	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2816627	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2816628	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2816629	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2816631	0.91[ASN][1000 genomes]
rs2816632	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2816635	0.91[ASN][1000 genomes]
rs2816648	0.85[ASN][1000 genomes]
rs2816650	0.83[ASN][1000 genomes]
rs2816652	0.89[ASN][1000 genomes]
rs2816653	0.80[ASN][1000 genomes]
rs28489970	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28594491	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28625632	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28818248	0.99[ASN][1000 genomes]
rs28822720	0.85[ASN][1000 genomes]
rs28846738	0.85[ASN][1000 genomes]
rs2975216	0.82[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2975217	0.89[ASN][1000 genomes]
rs3000073	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3000075	0.80[ASN][1000 genomes]
rs3803319	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3825762	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4277291	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4334224	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4412909	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4677	0.80[ASN][1000 genomes]
rs55883508	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56034563	1.00[ASN][1000 genomes]
rs56263609	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58528939	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6576081	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs66527719	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66777564	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7146012	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7146643	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7146683	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7148186	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7149013	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7152283	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7153832	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7154463	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs760270	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs8015973	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8022526	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[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
rs4555082	BTBD6	cis	Artery Tibial	GTEx

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105715800-105766000	Weak transcription	Fetal Kidney	kidney
2	chr14:105721800-105759800	Weak transcription	Colon Smooth Muscle	Colon
3	chr14:105722000-105760600	Weak transcription	NH-A	brain
4	chr14:105731200-105759000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr14:105739200-105759000	Weak transcription	Brain Germinal Matrix	brain
6	chr14:105739800-105765800	Weak transcription	NHEK	skin
7	chr14:105741600-105759000	Weak transcription	Small Intestine	intestine
8	chr14:105742200-105765600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr14:105742200-105765800	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr14:105742400-105760400	Weak transcription	Osteobl	bone
11	chr14:105744600-105766000	Weak transcription	HSMMtube	muscle
12	chr14:105745400-105760600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr14:105747000-105765600	Weak transcription	Colonic Mucosa	Colon
14	chr14:105747000-105766000	Weak transcription	Aorta	Aorta
15	chr14:105747200-105765600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr14:105748200-105760400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr14:105748200-105765800	Weak transcription	HMEC	breast
18	chr14:105748400-105759600	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr14:105748600-105765800	Weak transcription	A549	lung
20	chr14:105748800-105760400	Weak transcription	Fetal Lung	lung
21	chr14:105749600-105760200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr14:105749600-105766200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr14:105750000-105760000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr14:105750800-105759200	Weak transcription	Placenta	Placenta
25	chr14:105750800-105764800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr14:105751000-105760200	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr14:105751000-105760400	Weak transcription	Rectal Smooth Muscle	rectum
28	chr14:105751000-105760800	Weak transcription	Dnd41	blood
29	chr14:105751800-105759400	Weak transcription	Duodenum Mucosa	Duodenum
30	chr14:105752000-105759800	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr14:105752600-105759200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr14:105752800-105759200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr14:105752800-105760000	Weak transcription	Fetal Brain Female	brain
34	chr14:105752800-105760400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr14:105753000-105760400	Weak transcription	Fetal Brain Male	brain
36	chr14:105753400-105766200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr14:105754000-105759200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr14:105754000-105760200	Weak transcription	Fetal Intestine Small	intestine
39	chr14:105754400-105759400	Weak transcription	Brain Anterior Caudate	brain
40	chr14:105754400-105759400	Weak transcription	Esophagus	oesophagus
41	chr14:105754400-105760600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr14:105754600-105759200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr14:105755600-105761800	Enhancers	Primary B cells from cord blood	blood
44	chr14:105755600-105762000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
45	chr14:105755800-105765600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr14:105756000-105760400	Weak transcription	HepG2	liver
47	chr14:105756400-105762000	Enhancers	Primary hematopoietic stem cells	blood
48	chr14:105756600-105761000	Enhancers	Primary monocytes fromperipheralblood	blood
49	chr14:105756600-105761800	Enhancers	Primary B cells from peripheral blood	blood
50	chr14:105756800-105759200	Enhancers	Primary hematopoietic stem cells short term culture	blood

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