Variant report

Variant	rs794792
Chromosome Location	chr6:15314010-15314011
allele	A/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	RUNX3	chr6:15313590-15314064	GM12878	blood:	n/a	n/a
2	SPI1	chr6:15313498-15314143	HL-60	blood:	n/a	chr6:15313919-15313928
3	POLR2A	chr6:15312645-15314261	GM12878	blood:	n/a	n/a
4	SPI1	chr6:15313545-15314033	GM12878	blood:	n/a	chr6:15313919-15313928
5	MXI1	chr6:15313722-15314063	GM12878	blood:	n/a	n/a
6	MTA3	chr6:15312480-15314109	GM12878	blood:	n/a	n/a
7	POLR2A	chr6:15312487-15314519	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr6:15313167-15314020	GM18505	blood:	n/a	n/a
9	SPI1	chr6:15313580-15314026	GM12891	blood:	n/a	chr6:15313919-15313928
10	STAT3	chr6:15313769-15314030	GM12878	blood:	n/a	chr6:15313922-15313929
11	POLR2A	chr6:15313234-15314014	GM12891	blood:	n/a	n/a
12	PML	chr6:15312615-15314127	GM12878	blood:	n/a	n/a
13	POLR2A	chr6:15312704-15314473	GM12891	blood:	n/a	n/a
14	POU2F2	chr6:15313700-15314019	GM12878	blood:	n/a	n/a
15	TBP	chr6:15313576-15314036	GM12878	blood:	n/a	n/a
16	RUNX3	chr6:15313384-15314091	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:15244134..15247491-chr6:15313536..15316337,3	K562	blood:
2	chr6:15089709..15092214-chr6:15313838..15315490,2	MCF-7	breast:

Variant related genes	Relation type
RNU6-522P	TF binding region
ENSG00000234261	Chromatin interaction
ENSG00000008083	Chromatin interaction
ENSG00000271888	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs2282816	0.90[JPT][hapmap]
rs2282823	1.00[JPT][hapmap]
rs2299055	1.00[JPT][hapmap]
rs3915734	0.81[JPT][hapmap]
rs707828	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs707829	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs707830	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs707831	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs707835	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs707836	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs707838	0.81[CHB][hapmap]
rs707839	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs760658	0.90[JPT][hapmap]
rs760659	0.91[JPT][hapmap]
rs794775	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs794776	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs794777	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs794778	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs794779	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs794783	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs794784	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs794785	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs794786	0.89[CHB][hapmap];0.82[JPT][hapmap]
rs794788	0.81[CHB][hapmap]
rs794789	0.81[CHB][hapmap];0.83[JPT][hapmap]
rs794793	0.81[CHB][hapmap];0.82[JPT][hapmap]
rs794795	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs794797	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9383048	1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027010	chr6:15201803-15425629	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv538140	chr6:15217899-15547127	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1030558	chr6:15234675-15449137	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv538141	chr6:15234675-15509163	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv538142	chr6:15243960-15404893	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
6	nsv949448	chr6:15279490-15449441	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv1025512	chr6:15291551-15452395	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv538143	chr6:15291551-15452395	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
9	nsv538144	chr6:15310696-15364984	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:15306000-15318600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:15307000-15314800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr6:15307400-15314400	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr6:15308800-15314800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr6:15309200-15320600	Weak transcription	A549	lung
6	chr6:15310200-15318200	Weak transcription	Fetal Kidney	kidney
7	chr6:15310600-15315000	Enhancers	H1 Cell Line	embryonic stem cell
8	chr6:15311000-15314600	Enhancers	Primary T cells fromperipheralblood	blood
9	chr6:15311000-15315200	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr6:15311000-15322200	Weak transcription	Fetal Intestine Small	intestine
11	chr6:15311200-15314400	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr6:15311200-15317600	Weak transcription	Stomach Mucosa	stomach
13	chr6:15311200-15330600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr6:15311800-15314400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
15	chr6:15311800-15314600	Enhancers	Primary B cells from peripheral blood	blood
16	chr6:15311800-15315200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr6:15312000-15314200	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
18	chr6:15312000-15314400	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr6:15312000-15314400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr6:15312200-15314200	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr6:15312200-15314400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr6:15312200-15314600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr6:15312200-15315000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
24	chr6:15312200-15317400	Enhancers	Primary T helper cells PMA-I stimulated	--
25	chr6:15312400-15314200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr6:15312400-15314400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr6:15312400-15314400	Enhancers	Small Intestine	intestine
28	chr6:15312400-15314600	Enhancers	Fetal Thymus	thymus
29	chr6:15312400-15315000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr6:15312400-15315800	Enhancers	Primary hematopoietic stem cells	blood
31	chr6:15312600-15314200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr6:15312600-15314200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr6:15312600-15314200	Enhancers	Brain Inferior Temporal Lobe	brain
34	chr6:15312600-15314200	Enhancers	Ovary	ovary
35	chr6:15312600-15314200	Enhancers	HSMMtube	muscle
36	chr6:15312600-15314400	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr6:15312600-15314400	Enhancers	Primary neutrophils fromperipheralblood	blood
38	chr6:15312600-15314400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr6:15312600-15314400	Enhancers	Brain Angular Gyrus	brain
40	chr6:15312600-15314400	Enhancers	Brain Hippocampus Middle	brain
41	chr6:15312600-15314400	Enhancers	Colon Smooth Muscle	Colon
42	chr6:15312600-15314400	Enhancers	Duodenum Mucosa	Duodenum
43	chr6:15312600-15314400	Enhancers	Esophagus	oesophagus
44	chr6:15312600-15314400	Enhancers	Fetal Brain Female	brain
45	chr6:15312600-15314400	Enhancers	Pancreas	Pancrea
46	chr6:15312600-15314400	Enhancers	Right Ventricle	heart
47	chr6:15312600-15314400	Enhancers	Skeletal Muscle Male	skeletal muscle
48	chr6:15312600-15314400	Enhancers	Skeletal Muscle Female	skeletal muscle
49	chr6:15312600-15314400	Enhancers	Spleen	Spleen
50	chr6:15312600-15314400	Flanking Active TSS	GM12878-XiMat	blood

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