Variant report

Variant	rs61736748
Chromosome Location	chr6:30680513-30680514
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:5)
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	MTA3	chr6:30679327-30680808	GM12878	blood:	n/a	n/a
2	POLR2A	chr6:30679502-30680893	K562	blood:	n/a	n/a
3	POLR2A	chr6:30679307-30680771	K562	blood:	n/a	n/a
4	POLR2A	chr6:30679017-30681049	K562	blood:	n/a	n/a
5	POLR2A	chr6:30679497-30680963	K562	blood:	n/a	n/a
6	GATA1	chr6:30680123-30680872	PBDE	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:30634661..30668428-chr6:30680318..30698953,145	MCF-7	breast:
2	chr6:30613572..30615692-chr6:30679736..30682346,2	MCF-7	breast:
3	chr6:30582954..30585144-chr6:30679590..30682672,3	K562	blood:
4	chr6:30652587..30660257-chr6:30673612..30681352,12	MCF-7	breast:
5	chr6:30577773..30589670-chr6:30680333..30700280,58	MCF-7	breast:

No data

Variant related genes	Relation type
MDC1	TF binding region
ENSG00000230449	Chromatin interaction
ENSG00000204564	Chromatin interaction
ENSG00000204569	Chromatin interaction
ENSG00000222894	Chromatin interaction
ENSG00000137404	Chromatin interaction
ENSG00000146112	Chromatin interaction
ENSG00000204568	Chromatin interaction
ENSG00000204560	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs61733209	1.00[AFR][1000 genomes]
rs61743771	0.89[AFR][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	chr6:30667400-30683000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
19	chr6:30667400-30683000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr6:30667600-30683000	Strong transcription	HUES48 Cell Line	embryonic stem cell
21	chr6:30667600-30683200	Strong transcription	Dnd41	blood
22	chr6:30668400-30684400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr6:30668600-30682000	Strong transcription	Fetal Intestine Small	intestine
24	chr6:30669200-30681800	Strong transcription	Brain Germinal Matrix	brain
25	chr6:30669200-30682800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr6:30669200-30683200	Strong transcription	HUES6 Cell Line	embryonic stem cell
27	chr6:30669200-30683200	Strong transcription	Placenta	Placenta
28	chr6:30669800-30682600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr6:30669800-30683000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr6:30670000-30682400	Strong transcription	Brain Anterior Caudate	brain
31	chr6:30670000-30683200	Strong transcription	Primary T cells from cord blood	blood
32	chr6:30670000-30683200	Strong transcription	Fetal Brain Female	brain
33	chr6:30670200-30681800	Strong transcription	Fetal Intestine Large	intestine
34	chr6:30670200-30682600	Strong transcription	HepG2	liver
35	chr6:30670200-30683000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr6:30670200-30683000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
37	chr6:30670200-30683000	Strong transcription	Spleen	Spleen
38	chr6:30670200-30683200	Strong transcription	H9 Cell Line	embryonic stem cell
39	chr6:30670200-30683400	Strong transcription	H1 Cell Line	embryonic stem cell
40	chr6:30672800-30683000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr6:30672800-30683000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr6:30674400-30682400	Strong transcription	K562	blood
43	chr6:30674600-30682800	Strong transcription	Skeletal Muscle Female	skeletal muscle
44	chr6:30674600-30683000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr6:30674600-30683000	Strong transcription	Fetal Lung	lung
46	chr6:30674600-30683200	Strong transcription	Skeletal Muscle Male	skeletal muscle
47	chr6:30674800-30682200	Strong transcription	Brain Cingulate Gyrus	brain
48	chr6:30674800-30683000	Strong transcription	Duodenum Smooth Muscle	Duodenum
49	chr6:30674800-30683000	Strong transcription	Left Ventricle	heart
50	chr6:30675000-30682000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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