Variant report

Variant	rs17074125
Chromosome Location	chr6:145074257-145074258
allele	A/C
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	SPI1	chr6:145074128-145074510	GM12891	blood:	n/a	n/a
2	RUNX3	chr6:145074150-145074625	GM12878	blood:	n/a	n/a
3	EP300	chr6:145074212-145074544	GM12878	blood:	n/a	chr6:145074342-145074356 chr6:145074343-145074352
4	SPI1	chr6:145074204-145074469	GM12878	blood:	n/a	n/a
5	ATF2	chr6:145074115-145074593	GM12878	blood:	n/a	n/a
6	MEF2A	chr6:145074143-145074622	GM12878	blood:	n/a	chr6:145074453-145074468
7	MAFF	chr6:145074153-145074348	HepG2	liver:	n/a	n/a
8	TBL1XR1	chr6:145074246-145074536	GM12878	blood:	n/a	n/a
9	NFIC	chr6:145074134-145074631	GM12878	blood:	n/a	n/a
10	FOXM1	chr6:145074151-145074590	GM12878	blood:	n/a	n/a
11	MAFK	chr6:145074142-145074282	HepG2	liver:	n/a	n/a
12	SPI1	chr6:145074029-145074552	GM12878	blood:	n/a	n/a
13	IKZF1	chr6:145074181-145074311	GM12878	blood:	n/a	n/a
14	SPI1	chr6:145074190-145074557	GM12891	blood:	n/a	n/a
15	ZNF143	chr6:145074169-145074371	GM12878	blood:	n/a	n/a
16	MAFK	chr6:145074056-145074344	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
UTRN	TF binding region

Extended variants
information (count: 27 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10046132	0.85[CHD][hapmap];1.00[JPT][hapmap]
rs10499234	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10499236	1.00[CHB][hapmap];0.88[TSI][hapmap];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13198393	0.83[ASW][hapmap];1.00[LWK][hapmap];0.83[MKK][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs13202460	0.85[YRI][hapmap]
rs13204138	0.83[CHD][hapmap];1.00[JPT][hapmap]
rs13214975	1.00[JPT][hapmap]
rs17074101	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17074126	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17074127	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17074128	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17074139	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17074162	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17074207	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17074234	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17074279	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3924754	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4130560	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4131501	1.00[LWK][hapmap];0.81[MKK][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs4416688	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4499950	0.81[ASW][hapmap]
rs56256643	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73779119	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016747	chr6:144917411-145599874	Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv1032838	chr6:144978504-145110121	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv830833	chr6:145001310-145201143	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	nsv1021098	chr6:145017386-145106441	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:145011800-145090200	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr6:145011800-145096600	Weak transcription	Thymus	Thymus
3	chr6:145024000-145087200	Weak transcription	Psoas Muscle	Psoas
4	chr6:145040000-145094600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr6:145040000-145114600	Weak transcription	NHLF	lung
6	chr6:145046000-145122200	Weak transcription	Colonic Mucosa	Colon
7	chr6:145047200-145077400	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr6:145047600-145075000	Weak transcription	Gastric	stomach
9	chr6:145047600-145083400	Weak transcription	Right Ventricle	heart
10	chr6:145047600-145096600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr6:145047600-145115000	Weak transcription	Esophagus	oesophagus
12	chr6:145047600-145115000	Weak transcription	Rectal Smooth Muscle	rectum
13	chr6:145047800-145079600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr6:145047800-145079600	Weak transcription	NHEK	skin
15	chr6:145049400-145098400	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr6:145049600-145088800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr6:145053000-145079800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr6:145054000-145095600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr6:145054200-145093400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr6:145054400-145100000	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr6:145056600-145078600	Weak transcription	Duodenum Mucosa	Duodenum
22	chr6:145059600-145096600	Weak transcription	Lung	lung
23	chr6:145059600-145097400	Weak transcription	Spleen	Spleen
24	chr6:145059800-145096600	Weak transcription	Fetal Stomach	stomach
25	chr6:145066200-145075400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr6:145066200-145077400	Weak transcription	Colon Smooth Muscle	Colon
27	chr6:145066200-145090200	Weak transcription	Fetal Kidney	kidney
28	chr6:145066200-145126200	Weak transcription	Stomach Mucosa	stomach
29	chr6:145066400-145087800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr6:145066400-145090400	Weak transcription	Pancreas	Pancrea
31	chr6:145066400-145090600	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr6:145066600-145076800	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr6:145066800-145076400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr6:145066800-145077800	Weak transcription	Brain Anterior Caudate	brain
35	chr6:145067000-145075800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr6:145067000-145083800	Weak transcription	Fetal Lung	lung
37	chr6:145067800-145078000	Strong transcription	Primary T helper cells PMA-I stimulated	--
38	chr6:145067800-145115800	Strong transcription	Monocytes-CD14+_RO01746	blood
39	chr6:145068000-145082200	Strong transcription	Primary T helper cells fromperipheralblood	blood
40	chr6:145068200-145081000	Strong transcription	Primary T cells fromperipheralblood	blood
41	chr6:145068200-145081200	Strong transcription	Dnd41	blood
42	chr6:145068400-145074400	Strong transcription	Primary hematopoietic stem cells	blood
43	chr6:145068800-145078000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr6:145068800-145080600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr6:145068800-145090600	Weak transcription	Small Intestine	intestine
46	chr6:145068800-145115000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr6:145069000-145076200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr6:145069000-145089200	Weak transcription	HSMMtube	muscle
49	chr6:145069200-145078200	Strong transcription	HepG2	liver
50	chr6:145069400-145074400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood

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