Variant report

Variant	rs3750671
Chromosome Location	chr10:6182423-6182424
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TEAD4	chr10:6182245-6182567	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr10:6182336-6182945	GM12878	blood:	n/a	n/a
3	CHD1	chr10:6182327-6184009	GM12878	blood:	n/a	n/a
4	IKZF1	chr10:6182317-6184632	GM12878	blood:	n/a	n/a
5	NRF1	chr10:6182379-6182434	GM12878	blood:	n/a	n/a
6	SIN3A	chr10:6182381-6182650	H1-hESC	embryonic stem cell:	n/a	n/a
7	RUNX3	chr10:6182401-6184334	GM12878	blood:	n/a	chr10:6183700-6183709
8	MXI1	chr10:6182340-6182592	H1-hESC	embryonic stem cell:	n/a	n/a
9	RUNX3	chr10:6182319-6184374	GM12878	blood:	n/a	chr10:6183700-6183709
10	POLR2A	chr10:6182374-6182496	K562	blood:	n/a	n/a
11	ZNF143	chr10:6182353-6182590	H1-hESC	embryonic stem cell:	n/a	n/a
12	EP300	chr10:6182404-6184252	GM12878	blood:	n/a	chr10:6182450-6182460
13	ELF1	chr10:6182101-6182921	GM12878	blood:	n/a	chr10:6182623-6182632
14	SIN3A	chr10:6182399-6183818	GM12878	blood:	n/a	chr10:6182646-6182659
15	STAT5A	chr10:6182336-6184064	GM12878	blood:	n/a	chr10:6182678-6182686
16	MTA3	chr10:6182294-6184476	GM12878	blood:	n/a	n/a
17	JUND	chr10:6182287-6184410	GM12878	blood:	n/a	chr10:6183319-6183331
18	TEAD4	chr10:6182171-6182629	H1-hESC	embryonic stem cell:	n/a	n/a
19	TCF3	chr10:6182401-6182822	GM12878	blood:	n/a	chr10:6182641-6182651
20	BATF	chr10:6182368-6184471	GM12878	blood:	n/a	n/a
21	POLR2A	chr10:6182381-6184149	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:6181525..6183322-chr10:6221078..6223708,2	MCF-7	breast:
2	chr10:6060947..6063701-chr10:6181512..6183483,2	K562	blood:
3	chr10:6182309..6185774-chr10:6185942..6188983,5	MCF-7	breast:
4	chr10:6171947..6174676-chr10:6182111..6184339,3	MCF-7	breast:
5	chr10:6171306..6174580-chr10:6176089..6182503,5	MCF-7	breast:
6	chr10:6180971..6185195-chr10:6203384..6207419,4	MCF-7	breast:

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

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11256933	0.96[CEU][hapmap];0.92[GIH][hapmap];0.81[MEX][hapmap];0.90[TSI][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11256942	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1571022	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17150879	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4515866	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7095926	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7905327	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7905816	0.84[CEU][hapmap]

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	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

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:6171400-6183200	Weak transcription	Right Atrium	heart
2	chr10:6172200-6182800	Weak transcription	Brain Angular Gyrus	brain
3	chr10:6176600-6185000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr10:6179400-6182600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr10:6180600-6183400	Weak transcription	Esophagus	oesophagus
6	chr10:6181600-6182600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr10:6181600-6182800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr10:6181600-6183200	Enhancers	Fetal Thymus	thymus
9	chr10:6181600-6183600	Enhancers	Spleen	Spleen
10	chr10:6181600-6184000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
11	chr10:6181800-6183600	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr10:6182000-6182600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
13	chr10:6182000-6182800	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
14	chr10:6182000-6182800	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr10:6182000-6182800	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr10:6182000-6182800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr10:6182000-6182800	Flanking Active TSS	Dnd41	blood
18	chr10:6182000-6183000	Enhancers	H1 Cell Line	embryonic stem cell
19	chr10:6182000-6183000	Enhancers	Primary hematopoietic stem cells	blood
20	chr10:6182000-6183200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr10:6182000-6183200	Bivalent Enhancer	Fetal Muscle Leg	muscle
22	chr10:6182000-6183400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr10:6182000-6183400	Enhancers	Psoas Muscle	Psoas
24	chr10:6182000-6183600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
25	chr10:6182000-6183800	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr10:6182000-6184000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr10:6182000-6184400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
28	chr10:6182000-6185400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr10:6182200-6182600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr10:6182200-6182600	Enhancers	Primary T cells from cord blood	blood
31	chr10:6182200-6182600	Enhancers	Primary T killer memory cells from peripheral blood	blood
32	chr10:6182200-6182600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr10:6182200-6182600	Enhancers	HSMM	muscle
34	chr10:6182200-6182800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr10:6182200-6183000	Enhancers	Primary B cells from cord blood	blood
36	chr10:6182200-6183000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr10:6182200-6183200	Flanking Active TSS	Duodenum Mucosa	Duodenum
38	chr10:6182200-6183600	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr10:6182200-6183600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
40	chr10:6182200-6184000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
41	chr10:6182200-6184000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
42	chr10:6182200-6184000	Flanking Active TSS	GM12878-XiMat	blood
43	chr10:6182400-6182600	Active TSS	Colonic Mucosa	Colon
44	chr10:6182400-6182600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
45	chr10:6182400-6182600	Flanking Active TSS	Thymus	Thymus
46	chr10:6182400-6182600	Bivalent Enhancer	NHDF-Ad	bronchial
47	chr10:6182400-6182800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
48	chr10:6182400-6182800	Enhancers	iPS-20b Cell Line	embryonic stem cell
49	chr10:6182400-6183000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
50	chr10:6182400-6183000	Enhancers	Muscle Satellite Cultured Cells	--

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