Variant report

Variant	rs2844707
Chromosome Location	chr6:30679963-30679964
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:13 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	YY1	chr6:30679573-30680222	GM12878	blood:	n/a	n/a
2	MTA3	chr6:30679327-30680808	GM12878	blood:	n/a	n/a
3	POLR2A	chr6:30679454-30680283	GM12892	blood:	n/a	n/a
4	POLR2A	chr6:30679635-30680007	Hela-S3	cervix:	n/a	n/a
5	RUNX3	chr6:30679445-30680382	GM12878	blood:	n/a	n/a
6	POLR2A	chr6:30679502-30680893	K562	blood:	n/a	n/a
7	POLR2A	chr6:30679307-30680771	K562	blood:	n/a	n/a
8	POLR2A	chr6:30679017-30681049	K562	blood:	n/a	n/a
9	POLR2A	chr6:30679460-30680339	GM12878	blood:	n/a	n/a
10	POLR2A	chr6:30679497-30680963	K562	blood:	n/a	n/a
11	BCLAF1	chr6:30679803-30680235	GM12878	blood:	n/a	n/a
12	POLR2A	chr6:30679240-30680024	GM12892	blood:	n/a	n/a
13	RUNX3	chr6:30679493-30680333	GM12878	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr6:30613572..30615692-chr6:30679736..30682346,2	MCF-7	breast:
2	chr6:30582954..30585144-chr6:30679590..30682672,3	K562	blood:
3	chr6:30652587..30660257-chr6:30673612..30681352,12	MCF-7	breast:

No data

Variant related genes	Relation type
MDC1	TF binding region
ENSG00000204564	Chromatin interaction
ENSG00000222894	Chromatin interaction
ENSG00000204569	Chromatin interaction
ENSG00000146112	Chromatin interaction
ENSG00000137404	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1264422	1.00[EUR][1000 genomes]
rs1264430	1.00[EUR][1000 genomes]
rs14350	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17195432	1.00[EUR][1000 genomes]
rs2252845	1.00[EUR][1000 genomes]
rs2394393	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2394394	1.00[AMR][1000 genomes]
rs2429643	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2517562	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2517563	1.00[EUR][1000 genomes]
rs2517567	1.00[EUR][1000 genomes]
rs2534688	1.00[EUR][1000 genomes]
rs3094103	1.00[EUR][1000 genomes]
rs3094105	1.00[EUR][1000 genomes]
rs3094107	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3129999	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3130674	1.00[EUR][1000 genomes]
rs3130675	1.00[EUR][1000 genomes]
rs34377509	1.00[EUR][1000 genomes]
rs9262167	0.83[EUR][1000 genomes]
rs9262217	0.83[EUR][1000 genomes]
rs9262222	0.83[EUR][1000 genomes]
rs9262223	0.83[EUR][1000 genomes]
rs9262225	0.83[EUR][1000 genomes]
rs9262234	0.83[EUR][1000 genomes]
rs9262239	0.83[EUR][1000 genomes]
rs9262242	0.83[EUR][1000 genomes]
rs9262256	0.83[EUR][1000 genomes]
rs9262257	1.00[EUR][1000 genomes]
rs9262268	0.83[EUR][1000 genomes]
rs9262270	0.83[EUR][1000 genomes]
rs9262280	0.83[EUR][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	chr6:30659400-30684400	Weak transcription	Stomach Mucosa	stomach
3	chr6:30659600-30680600	Weak transcription	Fetal Heart	heart
4	chr6:30659600-30684200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr6:30659600-30684200	Weak transcription	Fetal Brain Male	brain
6	chr6:30659600-30684800	Weak transcription	Small Intestine	intestine
7	chr6:30666200-30683000	Strong transcription	Fetal Muscle Trunk	muscle
8	chr6:30666200-30683000	Strong transcription	Fetal Muscle Leg	muscle
9	chr6:30666200-30683000	Strong transcription	Fetal Stomach	stomach
10	chr6:30666200-30683800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr6:30666400-30682600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr6:30666400-30683200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr6:30666400-30683200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr6:30666600-30680600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr6:30666800-30683400	Strong transcription	Cortex derived primary cultured neurospheres	brain
16	chr6:30667200-30683000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr6:30667200-30683200	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr6:30667400-30680000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr6:30667400-30683000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
20	chr6:30667400-30683000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr6:30667600-30683000	Strong transcription	HUES48 Cell Line	embryonic stem cell
22	chr6:30667600-30683200	Strong transcription	Dnd41	blood
23	chr6:30668400-30684400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr6:30668600-30682000	Strong transcription	Fetal Intestine Small	intestine
25	chr6:30669200-30681800	Strong transcription	Brain Germinal Matrix	brain
26	chr6:30669200-30682800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr6:30669200-30683200	Strong transcription	HUES6 Cell Line	embryonic stem cell
28	chr6:30669200-30683200	Strong transcription	Placenta	Placenta
29	chr6:30669800-30682600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr6:30669800-30683000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr6:30670000-30682400	Strong transcription	Brain Anterior Caudate	brain
32	chr6:30670000-30683200	Strong transcription	Primary T cells from cord blood	blood
33	chr6:30670000-30683200	Strong transcription	Fetal Brain Female	brain
34	chr6:30670200-30680000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr6:30670200-30681800	Strong transcription	Fetal Intestine Large	intestine
36	chr6:30670200-30682600	Strong transcription	HepG2	liver
37	chr6:30670200-30683000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr6:30670200-30683000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
39	chr6:30670200-30683000	Strong transcription	Spleen	Spleen
40	chr6:30670200-30683200	Strong transcription	H9 Cell Line	embryonic stem cell
41	chr6:30670200-30683400	Strong transcription	H1 Cell Line	embryonic stem cell
42	chr6:30672800-30683000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr6:30672800-30683000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr6:30674400-30682400	Strong transcription	K562	blood
45	chr6:30674600-30682800	Strong transcription	Skeletal Muscle Female	skeletal muscle
46	chr6:30674600-30683000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr6:30674600-30683000	Strong transcription	Fetal Lung	lung
48	chr6:30674600-30683200	Strong transcription	Skeletal Muscle Male	skeletal muscle
49	chr6:30674800-30682200	Strong transcription	Brain Cingulate Gyrus	brain
50	chr6:30674800-30683000	Strong transcription	Duodenum Smooth Muscle	Duodenum

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