Variant report

Variant	rs61733213
Chromosome Location	chr6:30673013-30673014
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	chr6:30672925-30673437	K562	blood:	n/a	n/a
2	POLR2A	chr6:30670704-30673275	K562	blood:	n/a	n/a
3	POLR2A	chr6:30670581-30673161	K562	blood:	n/a	n/a
4	POLR2A	chr6:30673004-30673038	MCF-7	breast:	n/a	n/a
5	POLR2A	chr6:30672922-30673246	HepG2	liver:	n/a	n/a
6	POLR2A	chr6:30672501-30673046	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:30660190..30662374-chr6:30672012..30673610,2	MCF-7	breast:
2	chr6:30669574..30671126-chr6:30671820..30673785,2	MCF-7	breast:
3	chr6:30671904..30674605-chr6:30675363..30677783,2	MCF-7	breast:

Variant related genes	Relation type
MDC1	TF binding region
ENSG00000224328	Chromatin interaction
ENSG00000137337	Chromatin interaction

Extended variants
information (count: 91 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:84)

rs_ID	r²[population]
rs1109146	0.88[AFR][1000 genomes]
rs16867845	0.88[ASN][1000 genomes]
rs16867852	0.88[AFR][1000 genomes]
rs16897781	0.88[AFR][1000 genomes]
rs16897791	0.88[AFR][1000 genomes]
rs17189120	0.88[ASN][1000 genomes]
rs17189134	0.88[ASN][1000 genomes]
rs17189155	0.88[ASN][1000 genomes]
rs17195411	0.88[ASN][1000 genomes]
rs17195474	0.88[ASN][1000 genomes]
rs17195488	0.88[ASN][1000 genomes]
rs17195516	0.88[ASN][1000 genomes]
rs2075015	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2106069	0.88[ASN][1000 genomes]
rs2239514	0.88[ASN][1000 genomes]
rs2239515	0.88[ASN][1000 genomes]
rs2239516	0.88[ASN][1000 genomes]
rs2267638	0.88[ASN][1000 genomes]
rs2267640	0.88[ASN][1000 genomes]
rs2269702	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2269707	0.88[AFR][1000 genomes]
rs2285321	0.88[AFR][1000 genomes]
rs2302347	0.88[ASN][1000 genomes]
rs2394387	0.88[ASN][1000 genomes]
rs2394388	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2394389	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28986465	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs3815101	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4148247	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs58423891	0.82[ASN][1000 genomes]
rs59272830	0.88[ASN][1000 genomes]
rs59378621	0.81[AFR][1000 genomes]
rs59607822	0.88[ASN][1000 genomes]
rs59913575	0.88[ASN][1000 genomes]
rs60081418	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60399658	1.00[ASN][1000 genomes]
rs61486053	0.88[AFR][1000 genomes]
rs6457246	0.88[ASN][1000 genomes]
rs6457247	0.88[ASN][1000 genomes]
rs6457248	0.88[ASN][1000 genomes]
rs6457249	0.88[ASN][1000 genomes]
rs6899769	0.88[ASN][1000 genomes]
rs6899862	0.83[ASN][1000 genomes]
rs6900113	0.87[AFR][1000 genomes]
rs6901251	0.88[ASN][1000 genomes]
rs6911174	0.88[ASN][1000 genomes]
rs6917434	0.88[ASN][1000 genomes]
rs6917935	0.88[ASN][1000 genomes]
rs6929698	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs6931293	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs6934466	0.88[ASN][1000 genomes]
rs6937357	0.88[AFR][1000 genomes]
rs7742291	0.88[ASN][1000 genomes]
rs7742650	0.88[ASN][1000 genomes]
rs7742754	0.88[ASN][1000 genomes]
rs7749109	0.88[ASN][1000 genomes]
rs7749807	0.88[ASN][1000 genomes]
rs7749978	0.88[ASN][1000 genomes]
rs7762626	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7767002	0.88[ASN][1000 genomes]
rs7773711	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9262120	0.88[ASN][1000 genomes]
rs9295902	0.88[AFR][1000 genomes]
rs9295904	0.88[AFR][1000 genomes]
rs9295905	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs9295908	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs9295909	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs9461620	0.88[AFR][1000 genomes]
rs9461622	0.88[AFR][1000 genomes]
rs9461623	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs9461624	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs9468803	0.88[AFR][1000 genomes]
rs9468805	0.88[AFR][1000 genomes]
rs9468811	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs9468812	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9468813	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs9468821	0.94[ASN][1000 genomes]
rs9468822	0.94[ASN][1000 genomes]
rs9468823	0.94[ASN][1000 genomes]
rs9500865	0.94[ASN][1000 genomes]
rs9501338	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs9501483	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs9501484	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs9671	0.88[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:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30659200-30673400	Weak transcription	Psoas Muscle	Psoas
2	chr6:30659200-30684200	Weak transcription	Right Atrium	heart
3	chr6:30659400-30675800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr6:30659400-30684400	Weak transcription	Stomach Mucosa	stomach
5	chr6:30659600-30680600	Weak transcription	Fetal Heart	heart
6	chr6:30659600-30684200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr6:30659600-30684200	Weak transcription	Fetal Brain Male	brain
8	chr6:30659600-30684800	Weak transcription	Small Intestine	intestine
9	chr6:30659800-30674800	Weak transcription	GM12878-XiMat	blood
10	chr6:30663200-30674400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr6:30663200-30674600	Weak transcription	A549	lung
12	chr6:30663200-30677000	Weak transcription	NHDF-Ad	bronchial
13	chr6:30663200-30677400	Weak transcription	Fetal Kidney	kidney
14	chr6:30663200-30678600	Weak transcription	HMEC	breast
15	chr6:30663400-30677400	Weak transcription	NH-A	brain
16	chr6:30663800-30674600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr6:30663800-30674800	Weak transcription	Hela-S3	cervix
18	chr6:30666200-30683000	Strong transcription	Fetal Muscle Trunk	muscle
19	chr6:30666200-30683000	Strong transcription	Fetal Muscle Leg	muscle
20	chr6:30666200-30683000	Strong transcription	Fetal Stomach	stomach
21	chr6:30666200-30683800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr6:30666400-30682600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr6:30666400-30683200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr6:30666400-30683200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr6:30666600-30675400	Strong transcription	Fetal Thymus	thymus
26	chr6:30666600-30680600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr6:30666800-30683400	Strong transcription	Cortex derived primary cultured neurospheres	brain
28	chr6:30667200-30683000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr6:30667200-30683200	Strong transcription	HUES64 Cell Line	embryonic stem cell
30	chr6:30667400-30676400	Strong transcription	Stomach Smooth Muscle	stomach
31	chr6:30667400-30680000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr6:30667400-30683000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
33	chr6:30667400-30683000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr6:30667600-30673800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr6:30667600-30673800	Strong transcription	K562	blood
36	chr6:30667600-30683000	Strong transcription	HUES48 Cell Line	embryonic stem cell
37	chr6:30667600-30683200	Strong transcription	Dnd41	blood
38	chr6:30667800-30673600	Strong transcription	HSMMtube	muscle
39	chr6:30668000-30677000	Strong transcription	Thymus	Thymus
40	chr6:30668200-30673800	Strong transcription	Brain Substantia Nigra	brain
41	chr6:30668400-30684400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr6:30668600-30674600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr6:30668600-30679000	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr6:30668600-30682000	Strong transcription	Fetal Intestine Small	intestine
45	chr6:30669000-30674200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr6:30669200-30674800	Strong transcription	Liver	Liver
47	chr6:30669200-30679600	Strong transcription	Primary T helper cells fromperipheralblood	blood
48	chr6:30669200-30681800	Strong transcription	Brain Germinal Matrix	brain
49	chr6:30669200-30682800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr6:30669200-30683200	Strong transcription	HUES6 Cell Line	embryonic stem cell

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