Variant report

Variant	rs9468814
Chromosome Location	chr6:30686081-30686082
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:30683610-30695318	SK-N-MC	brain:	n/a	n/a
2	POLR2A	chr6:30685949-30686544	K562	blood:	n/a	n/a
3	POLR2A	chr6:30684474-30686482	K562	blood:	n/a	n/a
4	POLR2A	chr6:30683916-30687159	HepG2	liver:	n/a	n/a
5	POLR2A	chr6:30685989-30686328	GM12892	blood:	n/a	n/a
6	YY1	chr6:30685991-30686191	K562	blood:	n/a	n/a

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:30523499..30526116-chr6:30685040..30688824,4	MCF-7	breast:
2	chr6:30685058..30687209-chr6:30852136..30853794,2	MCF-7	breast:
3	chr6:30613134..30616889-chr6:30684889..30690956,7	MCF-7	breast:
4	chr6:30618982..30621616-chr6:30685641..30687439,2	K562	blood:
5	chr6:30482934..30485578-chr6:30684677..30686611,2	K562	blood:
6	chr6:30576582..30588788-chr6:30682721..30700088,114	K562	blood:
7	chr6:30634661..30668428-chr6:30680318..30698953,145	MCF-7	breast:
8	chr6:30608315..30616989-chr6:30683761..30694958,31	K562	blood:
9	chr6:30591444..30595401-chr6:30685466..30689259,5	K562	blood:
10	chr6:30684320..30686534-chr6:30879167..30882068,2	MCF-7	breast:
11	chr6:30483905..30485578-chr6:30685111..30687168,2	K562	blood:
12	chr6:30577862..30587208-chr6:30682997..30696247,43	MCF-7	breast:
13	chr6:30685130..30687169-chr6:30748703..30751412,3	K562	blood:
14	chr6:30455852..30458015-chr6:30684660..30687891,3	K562	blood:
15	chr6:30685105..30690458-chr6:30847596..30854595,13	MCF-7	breast:
16	chr6:30590782..30598373-chr6:30685661..30690473,13	MCF-7	breast:
17	chr6:30643326..30660432-chr6:30681522..30696111,127	MCF-7	breast:
18	chr6:30683784..30686577-chr6:30843156..30844763,2	K562	blood:
19	chr6:30577773..30589670-chr6:30680333..30700280,58	MCF-7	breast:
20	chr6:30670013..30672002-chr6:30685618..30688068,3	MCF-7	breast:

No data

Variant related genes	Relation type
TUBB	TF binding region
MDC1	TF binding region
ENSG00000137404	Chromatin interaction
ENSG00000204569	Chromatin interaction
ENSG00000224328	Chromatin interaction
ENSG00000237775	Chromatin interaction
ENSG00000204590	Chromatin interaction
ENSG00000222894	Chromatin interaction
ENSG00000204560	Chromatin interaction
ENSG00000213780	Chromatin interaction
ENSG00000204580	Chromatin interaction
ENSG00000204592	Chromatin interaction
ENSG00000137343	Chromatin interaction
ENSG00000137337	Chromatin interaction
ENSG00000204576	Chromatin interaction
ENSG00000266183	Chromatin interaction
ENSG00000204568	Chromatin interaction
ENSG00000235781	Chromatin interaction
ENSG00000146112	Chromatin interaction
ENSG00000228022	Chromatin interaction
ENSG00000137411	Chromatin interaction
ENSG00000204564	Chromatin interaction
ENSG00000230449	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs1079687	0.90[ASN][1000 genomes]
rs1109146	0.88[ASN][1000 genomes]
rs16867852	0.88[ASN][1000 genomes]
rs16897781	0.88[ASN][1000 genomes]
rs16897791	0.88[ASN][1000 genomes]
rs2075015	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2239886	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2269702	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2269707	0.88[ASN][1000 genomes]
rs2285321	0.88[ASN][1000 genomes]
rs2394392	0.90[ASN][1000 genomes]
rs28986465	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs3094090	0.98[ASN][1000 genomes]
rs3132595	0.90[ASN][1000 genomes]
rs3132608	0.90[ASN][1000 genomes]
rs59378621	0.82[ASN][1000 genomes]
rs61486053	0.88[ASN][1000 genomes]
rs6924270	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6929626	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6929698	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6931293	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6937357	0.88[ASN][1000 genomes]
rs7756147	0.85[ASN][1000 genomes]
rs7762626	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs9295901	0.86[ASN][1000 genomes]
rs9295902	0.88[ASN][1000 genomes]
rs9295904	0.84[ASN][1000 genomes]
rs9295905	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs9295907	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9295908	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs9295909	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs9461620	0.88[ASN][1000 genomes]
rs9461622	0.80[ASN][1000 genomes]
rs9461623	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs9461624	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs9468803	0.88[ASN][1000 genomes]
rs9468805	0.88[ASN][1000 genomes]
rs9468807	0.86[ASN][1000 genomes]
rs9468811	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs9468813	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs9501338	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs9501481	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9501482	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9501483	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs9501484	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3519970	chr6:30382942-31378788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
2	esv3519971	chr6:30382942-31378788	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
3	nsv601481	chr6:30422632-31284253	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1012 gene(s)	inside rSNPs	diseases
4	esv3430377	chr6:30443802-30814426	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	967 gene(s)	inside rSNPs	diseases
5	nsv830626	chr6:30558064-30732905	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	406 gene(s)	inside rSNPs	diseases
6	esv2758041	chr6:30644693-30816319	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	223 gene(s)	inside rSNPs	diseases
7	esv2759413	chr6:30644693-30816319	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	223 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30683800-30686800	Active TSS	HUES64 Cell Line	embryonic stem cell
2	chr6:30684000-30686200	Active TSS	K562	blood
3	chr6:30684200-30686200	Active TSS	Fetal Brain Female	brain
4	chr6:30684200-30686400	Active TSS	iPS-20b Cell Line	embryonic stem cell
5	chr6:30684200-30686800	Active TSS	iPS-15b Cell Line	embryonic stem cell
6	chr6:30684400-30686400	Active TSS	H1 Cell Line	embryonic stem cell
7	chr6:30684400-30687000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr6:30684400-30690200	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr6:30684600-30686400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr6:30684800-30686200	Active TSS	Dnd41	blood
11	chr6:30684800-30686400	Active TSS	GM12878-XiMat	blood
12	chr6:30684800-30686800	Active TSS	HUES48 Cell Line	embryonic stem cell
13	chr6:30684800-30688800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr6:30684800-30689600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
15	chr6:30685000-30687000	Active TSS	Brain Germinal Matrix	brain
16	chr6:30685000-30687200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr6:30685200-30687200	Weak transcription	Lung	lung
18	chr6:30685200-30689400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr6:30685600-30686400	Weak transcription	Small Intestine	intestine
20	chr6:30685600-30687000	Weak transcription	Spleen	Spleen
21	chr6:30685600-30687200	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr6:30685600-30687400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr6:30685600-30687400	Weak transcription	Pancreas	Pancrea
24	chr6:30685600-30687600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr6:30685600-30687600	Weak transcription	Gastric	stomach
26	chr6:30685600-30687800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
27	chr6:30685800-30686200	Active TSS	HepG2	liver
28	chr6:30685800-30686400	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr6:30685800-30686400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr6:30685800-30686400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr6:30685800-30686400	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr6:30685800-30686400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr6:30685800-30686400	Weak transcription	Brain Hippocampus Middle	brain
34	chr6:30685800-30686400	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr6:30685800-30686400	Weak transcription	Fetal Heart	heart
36	chr6:30685800-30686400	Weak transcription	A549	lung
37	chr6:30685800-30686400	Weak transcription	HSMM	muscle
38	chr6:30685800-30686600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr6:30685800-30686600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr6:30685800-30686600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr6:30685800-30686600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr6:30685800-30686600	Weak transcription	Primary T helper cells PMA-I stimulated	--
43	chr6:30685800-30686600	Weak transcription	Brain Angular Gyrus	brain
44	chr6:30685800-30686600	Enhancers	Monocytes-CD14+_RO01746	blood
45	chr6:30685800-30686600	Weak transcription	NH-A	brain
46	chr6:30685800-30686800	Enhancers	Primary hematopoietic stem cells	blood
47	chr6:30685800-30686800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr6:30685800-30686800	Weak transcription	Liver	Liver
49	chr6:30685800-30686800	Weak transcription	Fetal Lung	lung
50	chr6:30685800-30686800	Weak transcription	Rectal Mucosa Donor 31	rectum

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