Variant report

Variant	rs2269702
Chromosome Location	chr6:30675135-30675136
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:51)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:51 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA2	chr6:30675054-30675556	A549	lung:	n/a	n/a
2	GTF2F1	chr6:30675083-30675361	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr6:30675117-30675599	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr6:30675084-30675401	PANC-1	pancreas:	n/a	n/a
5	FOXA2	chr6:30674864-30675640	A549	lung:	n/a	n/a
6	NR2F2	chr6:30674949-30675532	MCF-7	breast:	n/a	n/a
7	GATA3	chr6:30675124-30675549	MCF-7	breast:	n/a	n/a
8	RCOR1	chr6:30675078-30675385	Hela-S3	cervix:	n/a	n/a
9	MXI1	chr6:30675112-30675397	Hela-S3	cervix:	n/a	n/a
10	KAP1	chr6:30675130-30675330	U2OS	brain:	n/a	n/a
11	POLR2A	chr6:30675123-30675555	K562	blood:	n/a	n/a
12	ZNF217	chr6:30675015-30675489	MCF-7	breast:	n/a	n/a
13	EP300	chr6:30675044-30675356	Hela-S3	cervix:	n/a	n/a
14	MAX	chr6:30674983-30675544	ECC-1	luminal epithelium:	n/a	n/a
15	MAX	chr6:30675003-30675662	ECC-1	luminal epithelium:	n/a	n/a
16	SMC3	chr6:30675051-30675396	Hela-S3	cervix:	n/a	n/a
17	MAX	chr6:30675082-30675510	A549	lung:	n/a	n/a
18	SP1	chr6:30674972-30675462	A549	lung:	n/a	n/a
19	GATA3	chr6:30674832-30675747	MCF-7	breast:	n/a	n/a
20	NFIC	chr6:30674899-30675688	ECC-1	luminal epithelium:	n/a	n/a
21	FOXA2	chr6:30675100-30675385	HepG2	liver:	n/a	n/a
22	POLR2A	chr6:30675117-30675448	Hela-S3	cervix:	n/a	n/a
23	EP300	chr6:30674988-30675507	A549	lung:	n/a	n/a
24	RAD21	chr6:30675083-30675323	Hela-S3	cervix:	n/a	n/a
25	POLR2A	chr6:30675103-30675619	K562	blood:	n/a	n/a
26	FOXA1	chr6:30675109-30675375	T-47D	breast:	n/a	n/a
27	MAX	chr6:30674957-30675577	A549	lung:	n/a	n/a
28	CHD2	chr6:30675100-30675345	Hela-S3	cervix:	n/a	n/a
29	POLR2A	chr6:30675095-30675322	Hela-S3	cervix:	n/a	n/a
30	FOXA1	chr6:30675061-30675386	ECC-1	luminal epithelium:	n/a	n/a
31	TCF12	chr6:30674909-30675695	ECC-1	luminal epithelium:	n/a	n/a
32	POLR2A	chr6:30675097-30675596	ECC-1	luminal epithelium:	n/a	n/a
33	TCF12	chr6:30674933-30675637	A549	lung:	n/a	n/a
34	NFIC	chr6:30674922-30675716	ECC-1	luminal epithelium:	n/a	n/a
35	MAX	chr6:30675045-30675428	MCF-7	breast:	n/a	n/a
36	CEBPB	chr6:30674990-30675471	ECC-1	luminal epithelium:	n/a	chr6:30675023-30675031
37	GATA3	chr6:30674929-30675591	MCF-7	breast:	n/a	n/a
38	ELK1	chr6:30675115-30675390	Hela-S3	cervix:	n/a	n/a
39	STAT3	chr6:30675074-30675340	Hela-S3	cervix:	n/a	n/a
40	TCF12	chr6:30674933-30675563	ECC-1	luminal epithelium:	n/a	n/a
41	FOXA1	chr6:30675073-30675387	ECC-1	luminal epithelium:	n/a	n/a
42	POLR2A	chr6:30675113-30675710	PANC-1	pancreas:	n/a	n/a
43	RFX5	chr6:30675119-30675318	Hela-S3	cervix:	n/a	n/a
44	CEBPB	chr6:30675027-30675393	Hela-S3	cervix:	n/a	n/a
45	CEBPB	chr6:30675047-30675439	MCF-7	breast:	n/a	n/a
46	POLR2A	chr6:30675102-30675710	K562	blood:	n/a	n/a
47	MYC	chr6:30675096-30675374	MCF10A-Er-Src	breast:	n/a	n/a
48	USF2	chr6:30675122-30675380	Hela-S3	cervix:	n/a	n/a
49	CEBPB	chr6:30675047-30675515	A549	lung:	n/a	n/a
50	POLR2A	chr6:30674157-30675744	K562	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:30657343..30659554-chr6:30673396..30677307,4	MCF-7	breast:
2	chr6:30582039..30584873-chr6:30673580..30675821,2	K562	blood:
3	chr6:30652587..30660257-chr6:30673612..30681352,12	MCF-7	breast:

No data

Variant related genes	Relation type
MDC1	TF binding region
ENSG00000222894	Chromatin interaction
ENSG00000137404	Chromatin interaction
ENSG00000146112	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs1079687	0.90[ASN][1000 genomes]
rs1109146	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16867852	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16897781	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16897791	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2075015	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2239886	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2269707	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2284172	0.82[EUR][1000 genomes]
rs2285321	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2394392	0.90[ASN][1000 genomes]
rs25497	0.82[EUR][1000 genomes]
rs28986465	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3094090	0.90[ASN][1000 genomes]
rs3132595	0.90[ASN][1000 genomes]
rs3132608	0.90[ASN][1000 genomes]
rs55810373	0.82[EUR][1000 genomes]
rs59378621	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61486053	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61733213	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs6900113	0.81[AFR][1000 genomes]
rs6924270	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6929626	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6929698	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6931293	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6937357	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7762626	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7773711	0.87[AFR][1000 genomes]
rs9295901	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9295902	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9295904	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9295905	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9295907	0.82[AMR][1000 genomes]
rs9295908	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9295909	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9461620	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9461622	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9461623	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9461624	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9461625	0.82[EUR][1000 genomes]
rs9468803	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9468805	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9468807	0.93[ASN][1000 genomes]
rs9468811	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9468812	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs9468813	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9468814	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs9468816	0.82[EUR][1000 genomes]
rs9468817	0.82[EUR][1000 genomes]
rs9500863	0.82[EUR][1000 genomes]
rs9500866	0.82[EUR][1000 genomes]
rs9500867	0.82[EUR][1000 genomes]
rs9501027	0.82[EUR][1000 genomes]
rs9501338	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9501481	0.92[ASN][1000 genomes]
rs9501482	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs9501483	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9501484	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[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:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30659200-30684200	Weak transcription	Right Atrium	heart
2	chr6:30659400-30675800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr6:30659400-30684400	Weak transcription	Stomach Mucosa	stomach
4	chr6:30659600-30680600	Weak transcription	Fetal Heart	heart
5	chr6:30659600-30684200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr6:30659600-30684200	Weak transcription	Fetal Brain Male	brain
7	chr6:30659600-30684800	Weak transcription	Small Intestine	intestine
8	chr6:30663200-30677000	Weak transcription	NHDF-Ad	bronchial
9	chr6:30663200-30677400	Weak transcription	Fetal Kidney	kidney
10	chr6:30663200-30678600	Weak transcription	HMEC	breast
11	chr6:30663400-30677400	Weak transcription	NH-A	brain
12	chr6:30666200-30683000	Strong transcription	Fetal Muscle Trunk	muscle
13	chr6:30666200-30683000	Strong transcription	Fetal Muscle Leg	muscle
14	chr6:30666200-30683000	Strong transcription	Fetal Stomach	stomach
15	chr6:30666200-30683800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr6:30666400-30682600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr6:30666400-30683200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr6:30666400-30683200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr6:30666600-30675400	Strong transcription	Fetal Thymus	thymus
20	chr6:30666600-30680600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr6:30666800-30683400	Strong transcription	Cortex derived primary cultured neurospheres	brain
22	chr6:30667200-30683000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr6:30667200-30683200	Strong transcription	HUES64 Cell Line	embryonic stem cell
24	chr6:30667400-30676400	Strong transcription	Stomach Smooth Muscle	stomach
25	chr6:30667400-30680000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
26	chr6:30667400-30683000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
27	chr6:30667400-30683000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr6:30667600-30683000	Strong transcription	HUES48 Cell Line	embryonic stem cell
29	chr6:30667600-30683200	Strong transcription	Dnd41	blood
30	chr6:30668000-30677000	Strong transcription	Thymus	Thymus
31	chr6:30668400-30684400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr6:30668600-30679000	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr6:30668600-30682000	Strong transcription	Fetal Intestine Small	intestine
34	chr6:30669200-30679600	Strong transcription	Primary T helper cells fromperipheralblood	blood
35	chr6:30669200-30681800	Strong transcription	Brain Germinal Matrix	brain
36	chr6:30669200-30682800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr6:30669200-30683200	Strong transcription	HUES6 Cell Line	embryonic stem cell
38	chr6:30669200-30683200	Strong transcription	Placenta	Placenta
39	chr6:30669600-30679600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
40	chr6:30669600-30679800	Strong transcription	Primary B cells from peripheral blood	blood
41	chr6:30669800-30682600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr6:30669800-30683000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr6:30670000-30676200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr6:30670000-30677400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr6:30670000-30682400	Strong transcription	Brain Anterior Caudate	brain
46	chr6:30670000-30683200	Strong transcription	Primary T cells from cord blood	blood
47	chr6:30670000-30683200	Strong transcription	Fetal Brain Female	brain
48	chr6:30670200-30676200	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr6:30670200-30676400	Strong transcription	Brain Inferior Temporal Lobe	brain
50	chr6:30670200-30677600	Strong transcription	Ovary	ovary

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