Variant report

Variant	rs911177
Chromosome Location	chr6:28616066-28616067
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:150)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:150 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	YY1	chr6:28615885-28616146	GM12878	blood:	n/a	n/a
2	RUNX3	chr6:28615770-28616294	GM12878	blood:	n/a	n/a
3	ZNF384	chr6:28615839-28616167	GM12878	blood:	n/a	n/a
4	HDAC2	chr6:28615808-28616230	HepG2	liver:	n/a	chr6:28615958-28615972 chr6:28615955-28615969 chr6:28615953-28615967 chr6:28615954-28615968
5	ZKSCAN1	chr6:28615883-28616804	Hela-S3	cervix:	n/a	n/a
6	ATF3	chr6:28615674-28616479	A549	lung:	n/a	n/a
7	YY1	chr6:28615917-28616146	A549	lung:	n/a	n/a
8	MAX	chr6:28616042-28616242	H1-hESC	embryonic stem cell:	n/a	n/a
9	TBP	chr6:28615853-28616373	H1-hESC	embryonic stem cell:	n/a	n/a
10	GTF2F1	chr6:28615875-28616148	H1-hESC	embryonic stem cell:	n/a	n/a
11	ETS1	chr6:28615874-28616202	A549	lung:	n/a	n/a
12	POLR2A	chr6:28615816-28616795	SK-N-MC	brain:	n/a	n/a
13	GTF2F1	chr6:28615896-28616616	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr6:28615942-28616209	K562	blood:	n/a	n/a
15	MYBL2	chr6:28615665-28616901	HepG2	liver:	n/a	chr6:28616636-28616646
16	USF1	chr6:28615784-28616308	A549	lung:	n/a	n/a
17	TEAD4	chr6:28615834-28616546	K562	blood:	n/a	n/a
18	MAFK	chr6:28615849-28616214	H1-hESC	embryonic stem cell:	n/a	n/a
19	MAX	chr6:28615887-28616814	NB4	blood:	n/a	n/a
20	ATF3	chr6:28615700-28616420	HCT-116	colon:	n/a	n/a
21	EP300	chr6:28615900-28616136	K562	blood:	n/a	n/a
22	POLR2A	chr6:28615922-28616325	K562	blood:	n/a	n/a
23	NFIC	chr6:28615787-28616715	HepG2	liver:	n/a	n/a
24	FOXA1	chr6:28615795-28616230	HepG2	liver:	n/a	n/a
25	SMC3	chr6:28615899-28616773	Hela-S3	cervix:	n/a	n/a
26	TEAD4	chr6:28615747-28616609	ECC-1	luminal epithelium:	n/a	n/a
27	MAFK	chr6:28615806-28616533	Hela-S3	cervix:	n/a	chr6:28616468-28616479
28	CEBPB	chr6:28615792-28616186	ECC-1	luminal epithelium:	n/a	n/a
29	CEBPB	chr6:28615902-28616887	Hela-S3	cervix:	n/a	chr6:28616559-28616571
30	TEAD4	chr6:28615807-28616331	MCF-7	breast:	n/a	n/a
31	KAP1	chr6:28615780-28617033	HEK293	kidney:	n/a	chr6:28616591-28616599
32	BRF1	chr6:28615885-28616261	Hela-S3	cervix:	n/a	n/a
33	STAT3	chr6:28615879-28616079	MCF10A-Er-Src	breast:	n/a	n/a
34	YY1	chr6:28615971-28616282	ECC-1	luminal epithelium:	n/a	n/a
35	ELF1	chr6:28615905-28616200	HepG2	liver:	n/a	n/a
36	CEBPB	chr6:28615853-28616222	HepG2	liver:	n/a	n/a
37	BACH1	chr6:28615864-28616599	H1-hESC	embryonic stem cell:	n/a	n/a
38	TCF12	chr6:28615912-28616109	GM12878	blood:	n/a	n/a
39	REST	chr6:28615900-28616179	SK-N-SH	brain:	n/a	n/a
40	HSF1	chr6:28615845-28616224	HepG2	liver:	n/a	n/a
41	TCF7L2	chr6:28615925-28616402	PANC-1	pancreas:	n/a	n/a
42	SIN3A	chr6:28615907-28617124	H1-hESC	embryonic stem cell:	n/a	n/a
43	TAF1	chr6:28615880-28616159	SK-N-SH	brain:	n/a	n/a
44	ZNF263	chr6:28616003-28617224	HEK293-T-REx	kidney:	n/a	n/a
45	ETS1	chr6:28615786-28616329	A549	lung:	n/a	n/a
46	CBX3	chr6:28615767-28616819	HCT-116	colon:	n/a	n/a
47	KAP1	chr6:28615780-28616928	U2OS	brain:	n/a	chr6:28616591-28616599
48	TAF7	chr6:28615848-28616258	H1-hESC	embryonic stem cell:	n/a	n/a
49	POU2F2	chr6:28615900-28616130	GM12891	blood:	n/a	n/a
50	ATF2	chr6:28615836-28616394	H1-hESC	embryonic stem cell:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:28579846..28585618-chr6:28609150..28616432,10	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SCAND3-1	chr6:28616063-28616428	XLOC_005663

No data

Variant related genes	Relation type
ENSG00000272278	TF binding region
ENSG00000232040	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs10080420	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10434846	1.00[ASN][1000 genomes]
rs10733177	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10755647	1.00[ASN][1000 genomes]
rs10807032	1.00[ASN][1000 genomes]
rs10807036	0.83[ASN][1000 genomes]
rs10807040	1.00[ASN][1000 genomes]
rs11758055	1.00[ASN][1000 genomes]
rs12332986	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1474986	0.94[ASN][1000 genomes]
rs2057295	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2191036	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2394119	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28382606	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34358978	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34931542	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3757180	1.00[EUR][1000 genomes]
rs381493	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs384399	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3852211	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs389603	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs392471	0.88[ASN][1000 genomes]
rs394772	1.00[ASN][1000 genomes]
rs399558	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3999023	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs402426	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs404343	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs408255	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs411538	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4121090	1.00[ASN][1000 genomes]
rs418628	1.00[ASN][1000 genomes]
rs418898	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs420436	1.00[ASN][1000 genomes]
rs420463	1.00[ASN][1000 genomes]
rs422089	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs424426	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs426922	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs429875	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs434636	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs442174	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs443924	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs449074	1.00[ASN][1000 genomes]
rs454746	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4711176	1.00[ASN][1000 genomes]
rs4713172	1.00[ASN][1000 genomes]
rs4713174	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5007575	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs55860825	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6456820	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6456829	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6456832	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6456833	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6899512	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6906826	1.00[ASN][1000 genomes]
rs6923163	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6925972	1.00[ASN][1000 genomes]
rs6927023	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6935589	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6937042	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6941222	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7381746	1.00[ASN][1000 genomes]
rs7382159	1.00[ASN][1000 genomes]
rs7382309	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7382583	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7761914	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7771490	1.00[ASN][1000 genomes]
rs7773193	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs911178	0.88[ASN][1000 genomes]
rs9393922	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9393923	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9461464	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9468375	1.00[EUR][1000 genomes]
rs9468384	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9468394	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1020689	chr6:28449137-28635171	Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv830621	chr6:28473951-28675709	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv1031671	chr6:28575172-28678126	Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:28615800-28616200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr6:28615800-28616200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
3	chr6:28615800-28616200	Active TSS	Fetal Kidney	kidney
4	chr6:28615800-28616400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr6:28615800-28616400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr6:28615800-28616600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr6:28615800-28616600	Active TSS	HUVEC	blood vessel
8	chr6:28615800-28616600	Active TSS	NHEK	skin
9	chr6:28615800-28616800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr6:28615800-28616800	Active TSS	Ovary	ovary
11	chr6:28615800-28616800	Enhancers	Placenta Amnion	Placenta Amnion
12	chr6:28615800-28616800	Bivalent/Poised TSS	HepG2	liver
13	chr6:28615800-28617000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr6:28615800-28617000	Active TSS	iPS-18 Cell Line	embryonic stem cell
15	chr6:28615800-28617000	Active TSS	Breast Myoepithelial Primary Cells	Breast
16	chr6:28615800-28617000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr6:28615800-28617000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr6:28615800-28617000	Active TSS	Brain Germinal Matrix	brain
19	chr6:28615800-28617000	Active TSS	Fetal Muscle Leg	muscle
20	chr6:28615800-28617000	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
21	chr6:28615800-28617200	Active TSS	ES-I3 Cell Line	embryonic stem cell
22	chr6:28615800-28617200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr6:28615800-28617200	Active TSS	iPS-20b Cell Line	embryonic stem cell
24	chr6:28615800-28617200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr6:28615800-28617200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr6:28615800-28617200	Active TSS	Brain Inferior Temporal Lobe	brain
27	chr6:28615800-28617200	Active TSS	Fetal Muscle Trunk	muscle
28	chr6:28615800-28617200	Active TSS	Rectal Smooth Muscle	rectum
29	chr6:28615800-28617200	Active TSS	Right Atrium	heart
30	chr6:28615800-28617200	Active TSS	HSMM	muscle
31	chr6:28615800-28617400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr6:28615800-28617400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr6:28615800-28617400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr6:28615800-28617400	Active TSS	HUES48 Cell Line	embryonic stem cell
35	chr6:28615800-28617400	Active TSS	HUES6 Cell Line	embryonic stem cell
36	chr6:28615800-28617400	Active TSS	Brain Hippocampus Middle	brain
37	chr6:28615800-28617600	Active TSS	HUES64 Cell Line	embryonic stem cell
38	chr6:28616000-28616200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
39	chr6:28616000-28616200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
40	chr6:28616000-28616200	Active TSS	Primary hematopoietic stem cells short term culture	blood
41	chr6:28616000-28616200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
42	chr6:28616000-28616200	Bivalent/Poised TSS	Primary T helper naive cells fromperipheralblood	blood
43	chr6:28616000-28616200	Bivalent/Poised TSS	Primary T helper cells PMA-I stimulated	--
44	chr6:28616000-28616200	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
45	chr6:28616000-28616200	Bivalent/Poised TSS	Primary T regulatory cells fromperipheralblood	blood
46	chr6:28616000-28616200	Bivalent/Poised TSS	Thymus	Thymus
47	chr6:28616000-28616400	Bivalent/Poised TSS	Primary T cells from cord blood	blood
48	chr6:28616000-28616400	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
49	chr6:28616000-28616400	Bivalent/Poised TSS	Fetal Intestine Small	intestine
50	chr6:28616000-28616400	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle

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