Variant report

Variant	rs9455091
Chromosome Location	chr6:71122679-71122680
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	CREB1	chr6:71122546-71123757	HepG2	liver:	n/a	n/a
2	MAX	chr6:71122434-71122977	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr6:71122516-71123483	ECC-1	luminal epithelium:	n/a	n/a
4	MXI1	chr6:71122656-71123092	K562	blood:	n/a	n/a
5	POU2F2	chr6:71122501-71123041	GM12891	blood:	n/a	n/a
6	CREB1	chr6:71122575-71123208	ECC-1	luminal epithelium:	n/a	n/a
7	POLR2A	chr6:71122296-71124175	SK-N-MC	brain:	n/a	n/a
8	ATF1	chr6:71122490-71123310	K562	blood:	n/a	n/a
9	POLR2A	chr6:71122572-71123587	HUVEC	blood vessel:	n/a	n/a
10	ATF2	chr6:71122536-71123169	H1-hESC	embryonic stem cell:	n/a	n/a
11	YY1	chr6:71122643-71123419	GM12892	blood:	n/a	n/a
12	POLR2A	chr6:71122582-71123432	GM12878	blood:	n/a	n/a
13	CREB1	chr6:71122509-71123388	K562	blood:	n/a	n/a
14	MAX	chr6:71122487-71124119	A549	lung:	n/a	chr6:71123792-71123808 chr6:71123800-71123811 chr6:71123796-71123815 chr6:71123801-71123811 chr6:71123092-71123102
15	POLR2A	chr6:71122120-71124084	K562	blood:	n/a	n/a
16	E2F6	chr6:71122427-71124217	K562	blood:	n/a	chr6:71122913-71122920 chr6:71123793-71123802 chr6:71122908-71122922 chr6:71122937-71122951 chr6:71122936-71122951
17	NFIC	chr6:71122615-71123088	GM12878	blood:	n/a	n/a
18	POLR2A	chr6:71122499-71124106	GM18505	blood:	n/a	n/a
19	POLR2A	chr6:71122488-71123356	GM12878	blood:	n/a	n/a
20	POLR2A	chr6:71122317-71124183	GM19099	blood:	n/a	n/a
21	GATA3	chr6:71122564-71123313	SK-N-SH	brain:	n/a	n/a
22	REST	chr6:71122605-71123018	HepG2	liver:	n/a	n/a
23	TAF1	chr6:71122553-71123366	K562	blood:	n/a	n/a
24	POLR2A	chr6:71121858-71124306	GM12878	blood:	n/a	n/a
25	REST	chr6:71122672-71122992	A549	lung:	n/a	n/a
26	POLR2A	chr6:71122572-71123018	H1-hESC	embryonic stem cell:	n/a	n/a
27	SIN3A	chr6:71122392-71124181	H1-hESC	embryonic stem cell:	n/a	chr6:71123005-71123014
28	SP4	chr6:71122665-71123278	H1-hESC	embryonic stem cell:	n/a	chr6:71123055-71123071 chr6:71123053-71123069
29	POLR2A	chr6:71122070-71123458	MCF10A-Er-Src	breast:	n/a	n/a
30	RCOR1	chr6:71122396-71123373	K562	blood:	n/a	n/a
31	POLR2A	chr6:71122627-71123414	GM10847	blood:	n/a	n/a
32	GTF2F1	chr6:71122644-71123312	K562	blood:	n/a	n/a
33	POLR2A	chr6:71122511-71124048	NB4	blood:	n/a	n/a
34	TCF12	chr6:71122666-71123430	ECC-1	luminal epithelium:	n/a	n/a
35	GTF2B	chr6:71122655-71123305	K562	blood:	n/a	n/a
36	YY1	chr6:71122611-71123078	SK-N-SH	brain:	n/a	n/a
37	POLR2A	chr6:71122605-71123470	HCT-116	colon:	n/a	n/a
38	POLR2A	chr6:71122458-71123456	GM12892	blood:	n/a	n/a
39	POLR2A	chr6:71122448-71123654	K562	blood:	n/a	n/a
40	FOXA2	chr6:71122645-71123500	A549	lung:	n/a	n/a
41	HCFC1	chr6:71122330-71123489	K562	blood:	n/a	n/a
42	SRF	chr6:71122658-71123205	ECC-1	luminal epithelium:	n/a	n/a
43	PBX3	chr6:71122591-71123193	SK-N-SH	brain:	n/a	n/a
44	POLR2A	chr6:71122480-71123390	GM12892	blood:	n/a	n/a
45	BCLAF1	chr6:71122461-71123071	GM12878	blood:	n/a	n/a
46	MAX	chr6:71122519-71123433	ECC-1	luminal epithelium:	n/a	chr6:71123092-71123102
47	CTCF	chr6:71122560-71122710	NHLF	lung:	n/a	n/a
48	CREB1	chr6:71122622-71123172	ECC-1	luminal epithelium:	n/a	n/a
49	POLR2A	chr6:71122659-71123824	HepG2	liver:	n/a	n/a
50	TAF1	chr6:71122527-71123415	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:16186106..16187092-chr6:71122372..71122959,2	Hela-S3	cervix:
2	chr6:71121490..71124764-chr6:71274758..71276919,3	K562	blood:
3	chr12:1058193..1058819-chr6:71122547..71123405,2	HCT-116	colon:
4	chr19:49468459..49469034-chr6:71122515..71123021,2	NB4	blood:
5	chr1:144533691..144534509-chr6:71122358..71122907,2	HCT-116	colon:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-COL9A1-1	chr6:71122531-71122765	ENSG00000224349.2
2	lnc-FAM135A-2	chr6:71122644-71122793	NONHSAT113446

Variant related genes	Relation type
FAM135A	TF binding region
ENSG00000002016	Chromatin interaction
ENSG00000201699	Chromatin interaction
ENSG00000154079	Chromatin interaction
ENSG00000167460	Chromatin interaction
ENSG00000087086	Chromatin interaction

Extended variants
information (count: 77 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10080714	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10440813	0.91[YRI][hapmap];0.84[AFR][1000 genomes]
rs10485117	0.86[ASW][hapmap];1.00[LWK][hapmap];0.92[MKK][hapmap];0.91[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12332812	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12332923	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs16869217	0.91[YRI][hapmap];0.84[AFR][1000 genomes]
rs16869242	0.91[YRI][hapmap];0.84[AFR][1000 genomes]
rs16869261	0.91[YRI][hapmap];0.84[AFR][1000 genomes]
rs16869301	1.00[ASW][hapmap];0.93[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs2207424	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs2223997	0.91[YRI][hapmap];0.84[AFR][1000 genomes]
rs3846749	0.91[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs747454	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9294867	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9294869	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9294870	0.91[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9294873	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs9446243	0.91[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9446244	0.89[YRI][hapmap];0.86[AFR][1000 genomes]
rs9446247	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9446251	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs9446253	0.82[AFR][1000 genomes]
rs9446255	0.90[AFR][1000 genomes]
rs9446256	0.91[YRI][hapmap];0.84[AFR][1000 genomes]
rs9446257	0.91[YRI][hapmap];0.84[AFR][1000 genomes]
rs9446259	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs9446260	0.91[YRI][hapmap]
rs9446261	0.91[YRI][hapmap]
rs9446262	0.91[YRI][hapmap]
rs9446264	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs9446265	0.91[YRI][hapmap]
rs9446266	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs9446277	0.92[LWK][hapmap]
rs9455096	0.91[YRI][hapmap]
rs9455102	0.91[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9455103	0.91[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9455107	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs9455109	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs9455110	0.90[AFR][1000 genomes]
rs9455112	0.90[AFR][1000 genomes]
rs9455115	0.89[YRI][hapmap];0.90[AFR][1000 genomes]
rs9455116	0.90[AFR][1000 genomes]
rs9455117	0.90[AFR][1000 genomes]
rs9455118	0.84[AFR][1000 genomes]
rs9455119	0.88[YRI][hapmap];0.90[AFR][1000 genomes]
rs9455120	0.86[ASW][hapmap];1.00[LWK][hapmap];0.92[MKK][hapmap];0.91[YRI][hapmap];0.84[AFR][1000 genomes]
rs9455122	0.91[YRI][hapmap];0.84[AFR][1000 genomes]
rs9455123	0.91[YRI][hapmap];0.84[AFR][1000 genomes]
rs9455124	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs9455126	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs9455127	0.91[YRI][hapmap];0.90[AFR][1000 genomes]
rs9455128	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs9455131	0.86[ASW][hapmap];1.00[LWK][hapmap];0.85[MKK][hapmap];0.91[YRI][hapmap];0.84[AFR][1000 genomes]
rs9455134	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs9455135	0.91[YRI][hapmap]
rs9455136	0.91[YRI][hapmap]
rs9455137	0.91[YRI][hapmap]
rs9455141	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs9455142	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs9455143	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs9455145	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs9455146	0.81[AFR][1000 genomes]
rs9455152	1.00[ASW][hapmap];1.00[LWK][hapmap];0.91[MKK][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs9455154	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs9455155	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs9455157	0.91[YRI][hapmap]
rs9455159	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932111	chr6:70736835-71633094	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv886142	chr6:70741209-71251421	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv1027049	chr6:70961610-71561488	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv524328	chr6:70961833-71558805	Flanking Bivalent TSS/Enh Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv917312	chr6:70961903-71601688	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' 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
6	nsv1026229	chr6:71016272-71183503	Flanking Active TSS Strong transcription Active TSS Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	nsv886144	chr6:71018467-71214201	Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
8	nsv1032876	chr6:71048428-71145166	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
9	nsv1027161	chr6:71106657-71145166	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
10	nsv886145	chr6:71119524-71317480	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:71121400-71125200	Active TSS	Rectal Smooth Muscle	rectum
2	chr6:71121600-71122800	Flanking Active TSS	Duodenum Mucosa	Duodenum
3	chr6:71121800-71124400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr6:71121800-71124600	Active TSS	Fetal Kidney	kidney
5	chr6:71121800-71124800	Active TSS	iPS-20b Cell Line	embryonic stem cell
6	chr6:71122000-71122800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr6:71122000-71122800	Flanking Active TSS	HUVEC	blood vessel
8	chr6:71122000-71123800	Active TSS	Muscle Satellite Cultured Cells	--
9	chr6:71122000-71124000	Active TSS	Skeletal Muscle Male	skeletal muscle
10	chr6:71122000-71124000	Active TSS	Hela-S3	cervix
11	chr6:71122000-71124000	Active TSS	NHLF	lung
12	chr6:71122000-71124200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr6:71122000-71124400	Active TSS	H9 Cell Line	embryonic stem cell
14	chr6:71122000-71124400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr6:71122000-71124400	Active TSS	HUES64 Cell Line	embryonic stem cell
16	chr6:71122000-71124400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr6:71122000-71124600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr6:71122000-71124600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr6:71122000-71124600	Active TSS	Colonic Mucosa	Colon
20	chr6:71122000-71124600	Active TSS	Stomach Smooth Muscle	stomach
21	chr6:71122000-71124800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr6:71122000-71124800	Active TSS	iPS-18 Cell Line	embryonic stem cell
23	chr6:71122000-71125000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr6:71122000-71125200	Active TSS	HUES6 Cell Line	embryonic stem cell
25	chr6:71122000-71126200	Active TSS	GM12878-XiMat	blood
26	chr6:71122200-71122800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr6:71122200-71122800	Flanking Active TSS	Adipose Nuclei	Adipose
28	chr6:71122200-71122800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
29	chr6:71122200-71123000	Flanking Active TSS	Primary hematopoietic stem cells	blood
30	chr6:71122200-71123000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr6:71122200-71123800	Active TSS	Cortex derived primary cultured neurospheres	brain
32	chr6:71122200-71123800	Active TSS	Fetal Muscle Leg	muscle
33	chr6:71122200-71124000	Active TSS	NHDF-Ad	bronchial
34	chr6:71122200-71124200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
35	chr6:71122200-71124200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr6:71122200-71124200	Active TSS	Colon Smooth Muscle	Colon
37	chr6:71122200-71124200	Active TSS	Fetal Brain Male	brain
38	chr6:71122200-71124200	Active TSS	HSMMtube	muscle
39	chr6:71122200-71124200	Active TSS	NH-A	brain
40	chr6:71122200-71124400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr6:71122200-71124400	Active TSS	Fetal Muscle Trunk	muscle
42	chr6:71122200-71124600	Active TSS	Fetal Stomach	stomach
43	chr6:71122200-71124600	Active TSS	Ovary	ovary
44	chr6:71122200-71124600	Active TSS	Right Atrium	heart
45	chr6:71122200-71124600	Active TSS	Right Ventricle	heart
46	chr6:71122200-71124600	Active TSS	Thymus	Thymus
47	chr6:71122200-71124800	Active TSS	HUES48 Cell Line	embryonic stem cell
48	chr6:71122200-71124800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr6:71122200-71124800	Active TSS	A549	lung
50	chr6:71122200-71124800	Active TSS	K562	blood

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