Variant report

Variant	rs13215846
Chromosome Location	chr6:2248426-2248427
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:2248409-2248549	HepG2	liver:	n/a	n/a
2	FOXA1	chr6:2248277-2248638	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:2244284..2246271-chr6:2246300..2249565,3	K562	blood:
2	chr6:2244284..2247491-chr6:2247756..2249566,3	K562	blood:
3	chr6:1608353..1611335-chr6:2245492..2248463,2	MCF-7	breast:

Variant related genes	Relation type
GMDS	TF binding region
ENSG00000112699	Chromatin interaction
ENSG00000250903	Chromatin interaction
ENSG00000054598	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10458134	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11242746	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11242747	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11242751	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11242753	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11242755	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11242756	0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12198593	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12198715	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12207377	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12209836	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12215421	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12215717	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12216224	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12523924	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12525444	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12529507	0.87[ASN][1000 genomes]
rs12529715	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12660715	0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12664420	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12665003	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12665493	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13194365	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13195362	0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs13196348	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13196472	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13202573	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13206299	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17134819	0.99[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2129178	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2295009	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34244401	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs34439821	0.83[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs35063859	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35410074	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3800189	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3929752	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs58348518	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60015886	0.96[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs73342732	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7452388	0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs9501817	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9647650	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530548	chr6:1441421-2351608	Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv531295	chr6:1773436-2724986	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	71 gene(s)	inside rSNPs	diseases
3	nsv1025814	chr6:2064629-2308518	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
4	nsv538098	chr6:2064629-2308518	Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
5	nsv1030181	chr6:2071210-2308657	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
6	nsv538099	chr6:2071210-2308657	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
7	nsv883388	chr6:2093432-2514911	Strong transcription Enhancers ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
8	nsv883389	chr6:2093432-2776303	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	87 gene(s)	inside rSNPs	diseases
9	nsv830573	chr6:2120985-2263646	Bivalent Enhancer Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
10	nsv1022623	chr6:2199666-2267750	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
11	nsv538100	chr6:2199666-2267750	ZNF genes & repeats Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
12	nsv1022166	chr6:2199666-2320800	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription 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 lncRNA	43 gene(s)	inside rSNPs	diseases
13	nsv1017174	chr6:2213893-2340529	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
14	nsv1033201	chr6:2218647-2308518	ZNF genes & repeats Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
15	nsv538101	chr6:2218647-2308518	Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
16	nsv1026678	chr6:2230064-2261297	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	n/a
17	esv2763526	chr6:2230064-2311916	Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
18	nsv1021573	chr6:2246721-2832408	Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	80 gene(s)	inside rSNPs	diseases
19	nsv538102	chr6:2246721-2832408	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	80 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:2246600-2248600	Enhancers	Small Intestine	intestine
2	chr6:2246800-2248600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
3	chr6:2246800-2248600	Enhancers	Fetal Thymus	thymus
4	chr6:2246800-2249000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr6:2246800-2249000	Weak transcription	Ovary	ovary
6	chr6:2246800-2250000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr6:2246800-2250800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr6:2246800-2254800	Weak transcription	Esophagus	oesophagus
9	chr6:2246800-2255800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr6:2246800-2264200	Weak transcription	Gastric	stomach
11	chr6:2247000-2248600	Enhancers	Stomach Mucosa	stomach
12	chr6:2247000-2249000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr6:2247000-2249000	Weak transcription	Left Ventricle	heart
14	chr6:2247000-2249200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr6:2247000-2249200	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr6:2247000-2249200	Weak transcription	Fetal Muscle Trunk	muscle
17	chr6:2247000-2249200	Weak transcription	Fetal Stomach	stomach
18	chr6:2247000-2249400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr6:2247000-2249400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr6:2247000-2249400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr6:2247000-2249400	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr6:2247000-2249600	Weak transcription	Brain Angular Gyrus	brain
23	chr6:2247000-2249600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr6:2247000-2250000	Weak transcription	Lung	lung
25	chr6:2247000-2250200	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr6:2247000-2250200	Weak transcription	Aorta	Aorta
27	chr6:2247000-2253200	Weak transcription	Psoas Muscle	Psoas
28	chr6:2247000-2253800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr6:2247000-2254600	Weak transcription	Brain Substantia Nigra	brain
30	chr6:2247000-2254600	Weak transcription	Spleen	Spleen
31	chr6:2247000-2254600	Weak transcription	HSMM	muscle
32	chr6:2247000-2254800	Weak transcription	Brain Hippocampus Middle	brain
33	chr6:2247000-2254800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr6:2247000-2255200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr6:2247000-2255400	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr6:2247000-2258600	Weak transcription	Colonic Mucosa	Colon
37	chr6:2247000-2260400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr6:2247000-2264200	Weak transcription	Brain Cingulate Gyrus	brain
39	chr6:2247000-2264400	Weak transcription	HSMMtube	muscle
40	chr6:2247000-2264800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr6:2247000-2265200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr6:2247000-2265200	Weak transcription	Osteobl	bone
43	chr6:2247000-2269400	Weak transcription	Right Ventricle	heart
44	chr6:2247000-2273800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr6:2247000-2275000	Weak transcription	Fetal Kidney	kidney
46	chr6:2247000-2275400	Weak transcription	NHLF	lung
47	chr6:2247000-2275600	Weak transcription	Fetal Heart	heart
48	chr6:2247200-2248600	Enhancers	Primary T cells from cord blood	blood
49	chr6:2247200-2248600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr6:2247200-2248600	Enhancers	Dnd41	blood

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