Variant report

Variant	rs13216122
Chromosome Location	chr6:167321104-167321105
allele	C/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	chr6:167320721-167321518	GM12878	blood:	n/a	n/a
2	TAF1	chr6:167320835-167321198	GM12891	blood:	n/a	n/a
3	IRF1	chr6:167320792-167321198	K562	blood:	n/a	chr6:167321084-167321095 chr6:167321079-167321093
4	TAF1	chr6:167320982-167321208	GM12892	blood:	n/a	n/a
5	NFATC1	chr6:167320810-167321256	GM12878	blood:	n/a	n/a
6	ATF2	chr6:167320633-167321310	GM12878	blood:	n/a	n/a
7	POLR2A	chr6:167320812-167321201	GM12878	blood:	n/a	n/a
8	POLR2A	chr6:167321000-167321255	GM12891	blood:	n/a	n/a
9	BATF	chr6:167320864-167321175	GM12878	blood:	n/a	n/a
10	POLR2A	chr6:167321026-167321235	GM12878	blood:	n/a	n/a
11	MEF2A	chr6:167320760-167321277	GM12878	blood:	n/a	chr6:167320991-167321012 chr6:167320998-167321009 chr6:167320991-167321012 chr6:167320996-167321010
12	POLR2A	chr6:167320766-167321439	GM12892	blood:	n/a	n/a
13	POLR2A	chr6:167320903-167321275	GM12891	blood:	n/a	n/a
14	SPI1	chr6:167320794-167321183	GM12891	blood:	n/a	chr6:167321078-167321087 chr6:167321161-167321174 chr6:167321077-167321090
15	ELF1	chr6:167320941-167321233	K562	blood:	n/a	chr6:167321076-167321089 chr6:167321078-167321089
16	MTA3	chr6:167320739-167321318	GM12878	blood:	n/a	n/a
17	POU2F2	chr6:167320811-167321301	GM12878	blood:	n/a	chr6:167321249-167321261
18	SPI1	chr6:167320941-167321198	GM12878	blood:	n/a	chr6:167321078-167321087 chr6:167321161-167321174 chr6:167321077-167321090
19	MAX	chr6:167321083-167321218	K562	blood:	n/a	n/a
20	SPI1	chr6:167320958-167321200	K562	blood:	n/a	chr6:167321078-167321087 chr6:167321161-167321174 chr6:167321077-167321090
21	POLR2A	chr6:167320847-167321264	GM12878	blood:	n/a	n/a
22	RUNX3	chr6:167320731-167321423	GM12878	blood:	n/a	n/a
23	POLR2A	chr6:167320867-167321341	GM12892	blood:	n/a	n/a
24	TAF1	chr6:167320853-167321371	GM12878	blood:	n/a	n/a
25	ELF1	chr6:167320764-167321305	GM12878	blood:	n/a	chr6:167321076-167321089 chr6:167321078-167321089 chr6:167321249-167321261
26	SPI1	chr6:167320842-167321309	HL-60	blood:	n/a	chr6:167321078-167321087 chr6:167321161-167321174 chr6:167321077-167321090
27	MTA3	chr6:167320614-167321423	GM12878	blood:	n/a	n/a
28	CUX1	chr6:167320843-167321192	GM12878	blood:	n/a	n/a
29	BCLAF1	chr6:167320785-167321324	GM12878	blood:	n/a	chr6:167321196-167321205
30	POLR2A	chr6:167320870-167321121	GM12891	blood:	n/a	n/a
31	PML	chr6:167320684-167321358	GM12878	blood:	n/a	chr6:167321325-167321334
32	SPI1	chr6:167320619-167321441	GM12878	blood:	n/a	chr6:167321078-167321087 chr6:167321161-167321174 chr6:167321077-167321090
33	SPI1	chr6:167320797-167321228	GM12891	blood:	n/a	chr6:167321078-167321087 chr6:167321161-167321174 chr6:167321077-167321090
34	SPI1	chr6:167320856-167321244	GM12878	blood:	n/a	chr6:167321078-167321087 chr6:167321161-167321174 chr6:167321077-167321090
35	ATF1	chr6:167320881-167321225	K562	blood:	n/a	n/a
36	YY1	chr6:167321033-167321382	GM12892	blood:	n/a	chr6:167321249-167321263
37	POLR2A	chr6:167320946-167321232	GM12892	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:167316933..167319053-chr6:167320800..167322909,2	K562	blood:
2	chr6:167320098..167322424-chr6:167348297..167350309,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FGFR1OP-1	chr6:167319514-167321259	l_3322_chr6:167314133-167321259_testes

Variant related genes	Relation type
RPS6KA2	TF binding region
ENSG00000231654	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11159	0.81[EUR][1000 genomes]
rs13202098	0.82[EUR][1000 genomes]
rs13213544	0.92[TSI][hapmap]
rs34078068	1.00[EUR][1000 genomes]
rs34101156	0.85[EUR][1000 genomes]
rs35147976	0.86[EUR][1000 genomes]
rs35614625	0.85[EUR][1000 genomes]
rs35731380	0.87[EUR][1000 genomes]
rs7740833	0.87[EUR][1000 genomes]
rs9295380	0.83[EUR][1000 genomes]
rs9295382	0.85[EUR][1000 genomes]
rs9457239	0.85[EUR][1000 genomes]
rs9457244	0.87[EUR][1000 genomes]
rs9457245	0.82[EUR][1000 genomes]
rs9459800	0.87[EUR][1000 genomes]
rs9459802	0.87[EUR][1000 genomes]
rs9459803	0.87[EUR][1000 genomes]
rs9459804	0.89[EUR][1000 genomes]
rs9459806	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv605260	chr6:166984094-167455139	Enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1019381	chr6:167090236-167558598	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
3	nsv538541	chr6:167090236-167558598	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
4	nsv1022866	chr6:167108740-167345629	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv482525	chr6:167151805-167324406	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv605327	chr6:167185674-167360389	Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv1027314	chr6:167194653-167355961	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv538542	chr6:167194653-167355961	Strong transcription Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv605332	chr6:167198027-167353701	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv948634	chr6:167200671-167838993	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
11	nsv605333	chr6:167201033-167321693	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
12	nsv482507	chr6:167282376-167474915	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
13	nsv532074	chr6:167320656-167781977	Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:167315400-167321200	Weak transcription	Gastric	stomach
2	chr6:167315800-167341600	Weak transcription	Pancreas	Pancrea
3	chr6:167318000-167321400	Weak transcription	Right Atrium	heart
4	chr6:167318400-167321600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr6:167318400-167343800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr6:167318600-167323400	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr6:167318600-167342400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr6:167318800-167321200	Weak transcription	Fetal Brain Male	brain
9	chr6:167318800-167324400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr6:167318800-167326800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr6:167319000-167321800	Weak transcription	Brain Germinal Matrix	brain
12	chr6:167319200-167327600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr6:167320000-167321200	Enhancers	Primary neutrophils fromperipheralblood	blood
14	chr6:167320200-167321200	Weak transcription	Brain Hippocampus Middle	brain
15	chr6:167320200-167321600	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr6:167320200-167322000	Enhancers	Primary T cells fromperipheralblood	blood
17	chr6:167320200-167322200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr6:167320200-167322200	Enhancers	Fetal Thymus	thymus
19	chr6:167320200-167322400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
20	chr6:167320200-167322600	Enhancers	Brain Anterior Caudate	brain
21	chr6:167320200-167323000	Enhancers	Primary B cells from peripheral blood	blood
22	chr6:167320400-167321800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr6:167320400-167322000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
24	chr6:167320400-167322000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
25	chr6:167320400-167322200	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr6:167320400-167322200	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr6:167320400-167322600	Enhancers	Spleen	Spleen
28	chr6:167320400-167322800	Enhancers	Primary B cells from cord blood	blood
29	chr6:167320400-167326000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr6:167320400-167327400	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr6:167320600-167321800	Enhancers	Primary T helper naive cells from peripheral blood	blood
32	chr6:167320600-167321800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
33	chr6:167320600-167321800	Enhancers	K562	blood
34	chr6:167320600-167322400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
35	chr6:167320600-167323000	Enhancers	Monocytes-CD14+_RO01746	blood
36	chr6:167320800-167321200	Enhancers	Primary T cells from cord blood	blood
37	chr6:167320800-167321200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr6:167320800-167321200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
39	chr6:167320800-167321200	Weak transcription	Brain Cingulate Gyrus	brain
40	chr6:167320800-167321400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
41	chr6:167320800-167321400	Enhancers	Duodenum Mucosa	Duodenum
42	chr6:167320800-167321400	Enhancers	Dnd41	blood
43	chr6:167320800-167321400	Flanking Active TSS	GM12878-XiMat	blood
44	chr6:167320800-167321600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr6:167320800-167321600	Enhancers	Primary T killer memory cells from peripheral blood	blood
46	chr6:167320800-167321800	Enhancers	Brain Angular Gyrus	brain
47	chr6:167320800-167322400	Enhancers	Primary hematopoietic stem cells	blood
48	chr6:167320800-167322600	Enhancers	Primary monocytes fromperipheralblood	blood
49	chr6:167320800-167322600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr6:167320800-167322600	Enhancers	Placenta	Placenta

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