Variant report

Variant	rs74116017
Chromosome Location	chr10:6117098-6117099
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TEAD4	chr10:6116769-6117108	K562	blood:	n/a	n/a
2	RCOR1	chr10:6116781-6117238	K562	blood:	n/a	n/a
3	GATA3	chr10:6116790-6117311	MCF-7	breast:	n/a	n/a
4	JUND	chr10:6116761-6117101	K562	blood:	n/a	n/a
5	BHLHE40	chr10:6116820-6117144	K562	blood:	n/a	n/a
6	GATA3	chr10:6116750-6117250	MCF-7	breast:	n/a	n/a
7	PBX3	chr10:6116660-6117247	SK-N-SH	brain:	n/a	n/a
8	GATA3	chr10:6116636-6117405	SK-N-SH	brain:	n/a	n/a
9	GATA3	chr10:6116688-6117344	SK-N-SH	brain:	n/a	n/a
10	TCF12	chr10:6116590-6117359	SK-N-SH	brain:	n/a	n/a
11	PBX3	chr10:6116672-6117207	SK-N-SH	brain:	n/a	n/a
12	ZNF217	chr10:6116595-6117142	MCF-7	breast:	n/a	n/a
13	CEBPB	chr10:6116787-6117102	IMR90	lung:	n/a	n/a
14	EGR1	chr10:6116719-6117197	MCF-7	breast:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:6114985..6117778-chr10:6128679..6130430,2	MCF-7	breast:
2	chr10:6116771..6117539-chr10:6130301..6130858,2	MCF-7	breast:
3	chr10:6115957..6118076-chr10:6129404..6132278,2	K562	blood:
4	chr10:6114486..6117388-chr10:6118975..6120679,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000214015	TF binding region
ENSG00000134453	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11256192	1.00[AMR][1000 genomes]
rs12722616	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12722617	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12722645	1.00[AMR][1000 genomes]
rs12722646	1.00[AMR][1000 genomes]
rs12722652	1.00[AMR][1000 genomes]
rs12722655	1.00[AMR][1000 genomes]
rs12722656	1.00[AMR][1000 genomes]
rs12722662	1.00[AMR][1000 genomes]
rs12722668	1.00[AMR][1000 genomes]
rs12722685	1.00[AMR][1000 genomes]
rs41309776	1.00[AMR][1000 genomes]
rs74116010	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74116012	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74116013	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74116014	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8177601	1.00[AMR][1000 genomes]
rs8177602	1.00[AMR][1000 genomes]
rs8177605	1.00[AMR][1000 genomes]
rs8177616	1.00[AMR][1000 genomes]
rs8177659	1.00[AMR][1000 genomes]
rs8177678	1.00[AMR][1000 genomes]
rs8177686	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	nsv894815	chr10:6108439-6161781	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:6109400-6117400	Enhancers	Fetal Thymus	thymus
2	chr10:6114400-6117200	Weak transcription	Left Ventricle	heart
3	chr10:6115000-6118000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
4	chr10:6115000-6124600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr10:6115600-6124200	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr10:6115600-6127800	Weak transcription	Primary B cells from peripheral blood	blood
7	chr10:6116600-6117200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr10:6116600-6117200	Enhancers	Esophagus	oesophagus
9	chr10:6116600-6117400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr10:6116600-6117400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr10:6116600-6117400	Bivalent Enhancer	Osteobl	bone
12	chr10:6116800-6117200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr10:6116800-6117400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr10:6117000-6117200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr10:6117000-6117200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr10:6117000-6117200	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
17	chr10:6117000-6117200	Bivalent Enhancer	Duodenum Mucosa	Duodenum
18	chr10:6117000-6117200	Bivalent Enhancer	Fetal Stomach	stomach
19	chr10:6117000-6117200	Enhancers	Lung	lung
20	chr10:6117000-6117200	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr10:6117000-6117200	Enhancers	Thymus	Thymus
22	chr10:6117000-6117400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
23	chr10:6117000-6117400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
24	chr10:6117000-6117400	Bivalent Enhancer	HSMMtube	muscle
25	chr10:6117000-6117400	Bivalent/Poised TSS	NHLF	lung

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