Variant report

Variant	rs6576081
Chromosome Location	chr14:105769855-105769856
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:105765347..105769450-chr14:105769470..105773842,3	K562	blood:
2	chr14:105766350..105771356-chr14:105955110..105959126,6	MCF-7	breast:
3	chr14:105765347..105769263-chr14:105769470..105773685,4	K562	blood:
4	chr14:105713902..105716022-chr14:105768956..105770763,2	MCF-7	breast:
5	chr14:105768384..105770510-chr14:105839259..105840826,2	MCF-7	breast:
6	chr14:105764841..105767262-chr14:105768886..105771341,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000185347	Chromatin interaction
ENSG00000184887	Chromatin interaction
ENSG00000179364	Chromatin interaction
ENSG00000185024	Chromatin interaction

Extended variants
information (count: 77 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs1008628	0.83[ASN][1000 genomes]
rs10140586	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10151638	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11622166	0.87[ASN][1000 genomes]
rs11625098	0.87[ASN][1000 genomes]
rs11626001	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11850055	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2245329	0.83[ASN][1000 genomes]
rs2255575	0.86[ASN][1000 genomes]
rs2735809	0.86[ASN][1000 genomes]
rs2735812	0.86[ASN][1000 genomes]
rs2735816	0.83[ASN][1000 genomes]
rs2735818	0.82[ASN][1000 genomes]
rs2735824	0.83[ASN][1000 genomes]
rs2735828	0.83[ASN][1000 genomes]
rs2735832	0.87[ASN][1000 genomes]
rs2816608	0.83[ASN][1000 genomes]
rs2816611	0.83[ASN][1000 genomes]
rs2816616	0.88[ASN][1000 genomes]
rs2816627	0.88[ASN][1000 genomes]
rs2816628	0.88[ASN][1000 genomes]
rs2816629	0.88[ASN][1000 genomes]
rs2816632	0.88[ASN][1000 genomes]
rs2816649	0.81[ASN][1000 genomes]
rs2816653	0.83[ASN][1000 genomes]
rs28489970	0.87[ASN][1000 genomes]
rs28594491	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28625632	0.87[ASN][1000 genomes]
rs28818248	0.85[ASN][1000 genomes]
rs28822720	0.91[ASN][1000 genomes]
rs28846738	0.91[ASN][1000 genomes]
rs2975216	0.83[ASN][1000 genomes]
rs3000073	0.88[ASN][1000 genomes]
rs3000075	0.83[ASN][1000 genomes]
rs3803319	0.87[ASN][1000 genomes]
rs3825762	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4277291	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4334224	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4412909	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4555082	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4677	0.83[ASN][1000 genomes]
rs55883508	0.87[ASN][1000 genomes]
rs56034563	0.87[ASN][1000 genomes]
rs56263609	0.87[ASN][1000 genomes]
rs58528939	0.83[ASN][1000 genomes]
rs66527719	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs66777564	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7146012	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7146643	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7146683	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7148186	0.85[ASN][1000 genomes]
rs7149013	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7152283	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7154463	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8015973	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8022526	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[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
rs6576081	BTBD6	cis	Artery Tibial	GTEx

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105768200-105770000	Weak transcription	Left Ventricle	heart
2	chr14:105768200-105770000	Weak transcription	Stomach Mucosa	stomach
3	chr14:105768200-105770200	Weak transcription	Esophagus	oesophagus
4	chr14:105768200-105770200	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr14:105768200-105770200	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr14:105768200-105771200	Weak transcription	Primary T cells from cord blood	blood
7	chr14:105768200-105771200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr14:105768200-105771200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr14:105768200-105771400	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr14:105768200-105771400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr14:105768200-105771600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr14:105768200-105771600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr14:105768200-105771800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr14:105768200-105771800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr14:105768200-105771800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr14:105768200-105771800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr14:105768200-105775200	Weak transcription	HMEC	breast
18	chr14:105768200-105775400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr14:105768200-105775600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr14:105768200-105775600	Weak transcription	NHEK	skin
21	chr14:105768200-105777600	Weak transcription	Brain Cingulate Gyrus	brain
22	chr14:105768200-105778000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr14:105768200-105778000	Weak transcription	Brain Anterior Caudate	brain
24	chr14:105768200-105778000	Weak transcription	Brain Substantia Nigra	brain
25	chr14:105768200-105778000	Weak transcription	Fetal Stomach	stomach
26	chr14:105768200-105778000	Weak transcription	Right Ventricle	heart
27	chr14:105768200-105778000	Weak transcription	Stomach Smooth Muscle	stomach
28	chr14:105768200-105778800	Weak transcription	Fetal Lung	lung
29	chr14:105768200-105779400	Weak transcription	Colonic Mucosa	Colon
30	chr14:105768200-105779400	Weak transcription	Thymus	Thymus
31	chr14:105768200-105779600	Weak transcription	GM12878-XiMat	blood
32	chr14:105768200-105779800	Weak transcription	NHLF	lung
33	chr14:105768200-105780000	Weak transcription	NHDF-Ad	bronchial
34	chr14:105768200-105780200	Weak transcription	Gastric	stomach
35	chr14:105768200-105780200	Weak transcription	Right Atrium	heart
36	chr14:105768400-105770200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr14:105768400-105770200	Weak transcription	Duodenum Mucosa	Duodenum
38	chr14:105768400-105770200	Weak transcription	Pancreas	Pancrea
39	chr14:105768400-105770200	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr14:105768400-105771200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr14:105768400-105771200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr14:105768400-105771200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr14:105768400-105771400	Weak transcription	Primary B cells from peripheral blood	blood
44	chr14:105768400-105771400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr14:105768400-105771400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr14:105768400-105771600	Weak transcription	Primary hematopoietic stem cells	blood
47	chr14:105768400-105771600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr14:105768400-105771800	Weak transcription	Fetal Intestine Large	intestine
49	chr14:105768400-105771800	Weak transcription	Fetal Intestine Small	intestine
50	chr14:105768400-105771800	Weak transcription	Spleen	Spleen

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