Variant report

Variant	rs61839727
Chromosome Location	chr10:6185867-6185868
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr10:6185728-6185928	HepG2	liver:	n/a	n/a
2	POLR2A	chr10:6185186-6188515	IMR90	lung:	n/a	n/a
3	POLR2A	chr10:6185737-6186065	K562	blood:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:6183735..6189299-chr10:6241759..6246920,10	MCF-7	breast:
2	chr10:6155651..6158898-chr10:6185032..6187374,4	MCF-7	breast:
3	chr10:6183938..6190482-chr10:6242008..6247032,17	MCF-7	breast:
4	chr10:6150598..6153044-chr10:6184117..6186836,2	K562	blood:
5	chr10:6130589..6132639-chr10:6184439..6189476,5	K562	blood:
6	chr10:5930398..5933295-chr10:6184026..6187985,3	K562	blood:
7	chr10:6185856..6188791-chr10:6189568..6196117,9	MCF-7	breast:
8	chr10:6130591..6133050-chr10:6185385..6187497,2	MCF-7	breast:

No data

Variant related genes	Relation type
PFKFB3	TF binding region
ENSG00000170525	Chromatin interaction
ENSG00000134453	Chromatin interaction
ENSG00000201581	Chromatin interaction
ENSG00000263628	Chromatin interaction
ENSG00000134461	Chromatin interaction
ENSG00000213994	Chromatin interaction
ENSG00000134452	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs3750670	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34061	chr10:5726821-6225187	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1042286	chr10:5795129-6578445	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
3	nsv1040721	chr10:6155144-6322566	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv540476	chr10:6155144-6322566	Genic enhancers Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	nsv1054044	chr10:6155144-6487217	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
6	nsv894816	chr10:6173416-6190343	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv894817	chr10:6173416-6251252	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
8	nsv437656	chr10:6183805-6189362	Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:6182800-6186200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr10:6183000-6186000	Weak transcription	Primary hematopoietic stem cells	blood
3	chr10:6183000-6186200	Weak transcription	Brain Angular Gyrus	brain
4	chr10:6183000-6186200	Weak transcription	HUVEC	blood vessel
5	chr10:6183600-6186000	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr10:6183600-6186200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr10:6183600-6186200	Weak transcription	Rectal Smooth Muscle	rectum
8	chr10:6183800-6186200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr10:6183800-6186200	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr10:6183800-6186200	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr10:6183800-6186200	Weak transcription	Right Atrium	heart
12	chr10:6183800-6186400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr10:6183800-6186400	Weak transcription	Esophagus	oesophagus
14	chr10:6183800-6186400	Weak transcription	HMEC	breast
15	chr10:6184000-6186000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr10:6184000-6186000	Enhancers	Adipose Nuclei	Adipose
17	chr10:6184000-6186000	Weak transcription	Stomach Smooth Muscle	stomach
18	chr10:6184000-6186000	Weak transcription	A549	lung
19	chr10:6184000-6186200	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr10:6184000-6186200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr10:6184000-6186200	Weak transcription	Aorta	Aorta
22	chr10:6184000-6186200	Weak transcription	Right Ventricle	heart
23	chr10:6184000-6186400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr10:6184000-6186400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr10:6184000-6186400	Weak transcription	Brain Anterior Caudate	brain
26	chr10:6184200-6186200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr10:6184400-6186000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr10:6184400-6186000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr10:6184400-6186200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr10:6184400-6186200	Enhancers	Muscle Satellite Cultured Cells	--
31	chr10:6184400-6186200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr10:6184400-6186200	Weak transcription	Liver	Liver
33	chr10:6184400-6186200	Weak transcription	Duodenum Mucosa	Duodenum
34	chr10:6184400-6186200	Enhancers	GM12878-XiMat	blood
35	chr10:6184600-6186000	Weak transcription	Primary B cells from peripheral blood	blood
36	chr10:6184600-6186000	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr10:6184600-6186400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr10:6185000-6186000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
39	chr10:6185000-6186000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr10:6185000-6186200	Enhancers	Primary B cells from cord blood	blood
41	chr10:6185000-6186200	Enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr10:6185000-6186200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr10:6185000-6186200	Bivalent Enhancer	Fetal Kidney	kidney
44	chr10:6185000-6186400	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr10:6185200-6186000	Bivalent Enhancer	Fetal Muscle Leg	muscle
46	chr10:6185200-6186000	Enhancers	Spleen	Spleen
47	chr10:6185200-6186200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr10:6185200-6186200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr10:6185200-6186200	Enhancers	Primary monocytes fromperipheralblood	blood
50	chr10:6185200-6186200	Weak transcription	Primary T helper cells PMA-I stimulated	--

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