Variant report

Variant	rs11593331
Chromosome Location	chr10:6184190-6184191
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:22)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:22 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NFIC	chr10:6182771-6184235	GM12878	blood:	n/a	n/a
2	FOXM1	chr10:6182764-6184342	GM12878	blood:	n/a	n/a
3	CHD1	chr10:6182777-6184233	IMR90	lung:	n/a	n/a
4	BCL11A	chr10:6182829-6184316	GM12878	blood:	n/a	n/a
5	IRF4	chr10:6182862-6184208	GM12878	blood:	n/a	n/a
6	IKZF1	chr10:6182317-6184632	GM12878	blood:	n/a	n/a
7	RUNX3	chr10:6182401-6184334	GM12878	blood:	n/a	chr10:6183700-6183709
8	POLR2A	chr10:6184177-6184471	K562	blood:	n/a	n/a
9	RUNX3	chr10:6182319-6184374	GM12878	blood:	n/a	chr10:6183700-6183709
10	ZNF384	chr10:6183115-6184345	GM12878	blood:	n/a	n/a
11	RELA	chr10:6183017-6184337	GM12878	blood:	n/a	n/a
12	ATF2	chr10:6182908-6184226	GM12878	blood:	n/a	n/a
13	RELA	chr10:6182936-6184311	GM18951	blood:	n/a	n/a
14	BCL3	chr10:6183637-6184202	GM12878	blood:	n/a	n/a
15	RELA	chr10:6182910-6184190	GM19193	blood:	n/a	n/a
16	EP300	chr10:6182404-6184252	GM12878	blood:	n/a	chr10:6182450-6182460
17	EBF1	chr10:6182511-6184195	GM12878	blood:	n/a	n/a
18	RELA	chr10:6183080-6184328	GM19099	blood:	n/a	n/a
19	MTA3	chr10:6182294-6184476	GM12878	blood:	n/a	n/a
20	JUND	chr10:6182287-6184410	GM12878	blood:	n/a	chr10:6183319-6183331
21	MTA3	chr10:6182771-6184388	GM12878	blood:	n/a	n/a
22	BATF	chr10:6182368-6184471	GM12878	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	chr10:6182309..6185774-chr10:6185942..6188983,5	MCF-7	breast:
3	chr10:6171947..6174676-chr10:6182111..6184339,3	MCF-7	breast:
4	chr10:6183938..6190482-chr10:6242008..6247032,17	MCF-7	breast:
5	chr10:6150598..6153044-chr10:6184117..6186836,2	K562	blood:
6	chr10:6182985..6185643-chr10:6203385..6205220,2	K562	blood:
7	chr10:5930398..5933295-chr10:6184026..6187985,3	K562	blood:
8	chr10:6180971..6185195-chr10:6203384..6207419,4	MCF-7	breast:

No data

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

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10905876	0.80[AMR][1000 genomes]
rs11256966	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs1972408	0.81[EUR][1000 genomes]
rs35040156	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71479760	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[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:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:6176600-6185000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr10:6182000-6184400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
3	chr10:6182000-6185400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr10:6182400-6184200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr10:6182400-6184200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr10:6182600-6185000	Enhancers	Placenta Amnion	Placenta Amnion
7	chr10:6182800-6186200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr10:6183000-6184200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr10:6183000-6184400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr10:6183000-6185000	Weak transcription	Primary B cells from cord blood	blood
11	chr10:6183000-6185200	Weak transcription	Pancreas	Pancrea
12	chr10:6183000-6185400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr10:6183000-6185800	Weak transcription	Primary T cells from cord blood	blood
14	chr10:6183000-6186000	Weak transcription	Primary hematopoietic stem cells	blood
15	chr10:6183000-6186200	Weak transcription	Brain Angular Gyrus	brain
16	chr10:6183000-6186200	Weak transcription	HUVEC	blood vessel
17	chr10:6183200-6185600	Enhancers	Primary neutrophils fromperipheralblood	blood
18	chr10:6183200-6185600	Weak transcription	Fetal Thymus	thymus
19	chr10:6183200-6185600	Weak transcription	Dnd41	blood
20	chr10:6183200-6185800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr10:6183400-6184200	Active TSS	Psoas Muscle	Psoas
22	chr10:6183400-6185000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr10:6183600-6184400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr10:6183600-6184400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr10:6183600-6184400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr10:6183600-6185000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr10:6183600-6185200	Weak transcription	Spleen	Spleen
28	chr10:6183600-6185800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr10:6183600-6186000	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr10:6183600-6186200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr10:6183600-6186200	Weak transcription	Rectal Smooth Muscle	rectum
32	chr10:6183800-6184200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
33	chr10:6183800-6184400	Bivalent Enhancer	Fetal Muscle Leg	muscle
34	chr10:6183800-6185200	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr10:6183800-6185800	Weak transcription	Ovary	ovary
36	chr10:6183800-6186200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr10:6183800-6186200	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr10:6183800-6186200	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr10:6183800-6186200	Weak transcription	Right Atrium	heart
40	chr10:6183800-6186400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr10:6183800-6186400	Weak transcription	Esophagus	oesophagus
42	chr10:6183800-6186400	Weak transcription	HMEC	breast
43	chr10:6184000-6184200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr10:6184000-6184200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr10:6184000-6184200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr10:6184000-6184200	Enhancers	Primary T helper cells PMA-I stimulated	--
47	chr10:6184000-6184200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
48	chr10:6184000-6184200	Active TSS	Muscle Satellite Cultured Cells	--
49	chr10:6184000-6184200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr10:6184000-6184200	Enhancers	GM12878-XiMat	blood

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