Variant report

Variant	rs681699
Chromosome Location	chr10:6242176-6242177
allele	A/G
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:17)
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	WRNIP1	chr10:6242091-6242182	GM12878	blood:	n/a	n/a
2	TCF7L2	chr10:6241761-6242221	HEK293	kidney:	n/a	n/a
3	KAP1	chr10:6241861-6242387	HEK293	kidney:	n/a	n/a

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:6241225..6242996-chr3:9850651..9852489,2	MCF-7	breast:
2	chr10:6129825..6133257-chr10:6241985..6247329,10	MCF-7	breast:
3	chr10:6183735..6189299-chr10:6241759..6246920,10	MCF-7	breast:
4	chr10:6236526..6239091-chr10:6241197..6242988,2	K562	blood:
5	chr10:6193518..6195996-chr10:6241964..6244930,2	MCF-7	breast:
6	chr10:6152733..6154775-chr10:6241861..6244257,2	K562	blood:
7	chr10:6183938..6190482-chr10:6242008..6247032,17	MCF-7	breast:
8	chr10:6239790..6243643-chr10:6244316..6247669,6	K562	blood:
9	chr10:6234379..6237357-chr10:6241010..6243643,2	K562	blood:
10	chr10:6149017..6157788-chr10:6241652..6246346,17	MCF-7	breast:
11	chr10:6128377..6132115-chr10:6241834..6247197,6	MCF-7	breast:
12	chr10:6142377..6145249-chr10:6240299..6242424,2	MCF-7	breast:
13	chr10:6240729..6242580-chr10:6245113..6247243,2	K562	blood:
14	chr10:6149112..6154904-chr10:6241492..6247373,13	MCF-7	breast:
15	chr10:6242059..6244389-chr6:31867421..31869441,2	MCF-7	breast:
16	chr10:6242075..6244740-chr10:27530620..27532882,2	MCF-7	breast:
17	chr10:6237461..6239091-chr10:6241197..6244129,2	K562	blood:

No data

Variant related genes	Relation type
PFKFB3	TF binding region
ENSG00000213994	Chromatin interaction
ENSG00000170525	Chromatin interaction
ENSG00000107897	Chromatin interaction
ENSG00000166278	Chromatin interaction
ENSG00000134453	Chromatin interaction
ENSG00000214021	Chromatin interaction
ENSG00000263628	Chromatin interaction
ENSG00000262412	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11258317	1.00[CHB][hapmap]
rs2516624	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	nsv1041039	chr10:6217724-6354858	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Bivalent Enhancer 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 target site	28 gene(s)	inside rSNPs	diseases
7	nsv894832	chr10:6237156-6253651	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
8	nsv894833	chr10:6237156-6261704	Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
9	nsv894834	chr10:6237156-6272169	Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
10	nsv521145	chr10:6241803-6246678	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
11	nsv894835	chr10:6242176-6268422	Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:6207000-6244400	Weak transcription	Hela-S3	cervix
2	chr10:6219200-6242200	Weak transcription	Primary hematopoietic stem cells	blood
3	chr10:6219200-6242400	Weak transcription	NHEK	skin
4	chr10:6220400-6242600	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr10:6222800-6242800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr10:6224800-6242200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr10:6228600-6242400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr10:6230400-6242200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr10:6230800-6242200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr10:6231200-6242600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr10:6233200-6242200	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr10:6233800-6242200	Weak transcription	Esophagus	oesophagus
13	chr10:6234200-6242600	Weak transcription	Colonic Mucosa	Colon
14	chr10:6234600-6242200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr10:6234800-6242800	Weak transcription	Primary B cells from peripheral blood	blood
16	chr10:6235000-6242400	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr10:6235200-6242400	Weak transcription	Rectal Smooth Muscle	rectum
18	chr10:6236400-6242600	Enhancers	Primary T cells from cord blood	blood
19	chr10:6236800-6242200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr10:6237400-6242800	Weak transcription	Aorta	Aorta
21	chr10:6237600-6242400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr10:6237600-6242800	Weak transcription	Small Intestine	intestine
23	chr10:6237600-6243600	Weak transcription	HSMMtube	muscle
24	chr10:6237800-6242200	Weak transcription	Lung	lung
25	chr10:6237800-6242400	Weak transcription	HSMM	muscle
26	chr10:6237800-6242800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr10:6238000-6242800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr10:6238000-6242800	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr10:6238200-6242200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr10:6238200-6242200	Weak transcription	Fetal Thymus	thymus
31	chr10:6238200-6242400	Weak transcription	K562	blood
32	chr10:6238200-6242400	Weak transcription	NHLF	lung
33	chr10:6238400-6242800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr10:6238400-6242800	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr10:6238600-6242200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr10:6238600-6242400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr10:6238600-6242400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr10:6238600-6242800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr10:6238600-6242800	Weak transcription	Brain Hippocampus Middle	brain
40	chr10:6238600-6242800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr10:6238800-6242200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr10:6238800-6242200	Weak transcription	Stomach Smooth Muscle	stomach
43	chr10:6239400-6242800	Weak transcription	Ovary	ovary
44	chr10:6239800-6242200	Weak transcription	Spleen	Spleen
45	chr10:6239800-6242800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr10:6240000-6242800	Weak transcription	Colon Smooth Muscle	Colon
47	chr10:6240200-6242200	Enhancers	Monocytes-CD14+_RO01746	blood
48	chr10:6240200-6242600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr10:6240400-6242400	Weak transcription	Primary B cells from cord blood	blood
50	chr10:6240800-6242600	Enhancers	Pancreas	Pancrea

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