Variant report

Variant	rs9258251
Chromosome Location	chr6:29721020-29721021
allele	A/G
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	YY1	chr6:29720781-29721125	H1-hESC	embryonic stem cell:	n/a	n/a
2	WRNIP1	chr6:29720853-29721156	GM12878	blood:	n/a	n/a
3	SMC3	chr6:29720762-29721200	GM12878	blood:	n/a	chr6:29720978-29720986
4	POLR2A	chr6:29719953-29721132	GM18505	blood:	n/a	n/a
5	RAD21	chr6:29720670-29721180	H1-hESC	embryonic stem cell:	n/a	chr6:29720801-29720815
6	CTCF	chr6:29720821-29721197	GM19238	blood:	n/a	chr6:29720979-29720988 chr6:29721022-29721038
7	RAD21	chr6:29720887-29721095	K562	blood:	n/a	n/a
8	JUN	chr6:29720926-29721126	H1-hESC	embryonic stem cell:	n/a	n/a
9	BRCA1	chr6:29720902-29721093	HepG2	liver:	n/a	n/a
10	E2F6	chr6:29720260-29721197	K562	blood:	n/a	chr6:29720335-29720346 chr6:29720335-29720346 chr6:29720335-29720346
11	ZNF263	chr6:29719869-29721144	HEK293-T-REx	kidney:	n/a	chr6:29719945-29719954
12	HDAC2	chr6:29720859-29721132	H1-hESC	embryonic stem cell:	n/a	n/a
13	NR2F2	chr6:29720830-29721179	K562	blood:	n/a	n/a
14	SIN3A	chr6:29720884-29721104	GM12878	blood:	n/a	n/a
15	RFX5	chr6:29720932-29721139	GM12878	blood:	n/a	n/a
16	MAX	chr6:29720701-29721273	MCF-7	breast:	n/a	chr6:29720727-29720737
17	TEAD4	chr6:29720484-29721155	H1-hESC	embryonic stem cell:	n/a	n/a
18	BCL3	chr6:29720746-29721261	A549	lung:	n/a	n/a
19	ZNF143	chr6:29720329-29721183	K562	blood:	n/a	n/a
20	POLR2A	chr6:29720057-29721137	GM12891	blood:	n/a	n/a
21	MYC	chr6:29720989-29721056	MCF-7	breast:	n/a	n/a
22	CTCF	chr6:29720920-29721070	AG09309	skin:	n/a	chr6:29720979-29720988 chr6:29721022-29721038
23	CTCF	chr6:29720740-29721135	A549	lung:	n/a	chr6:29720979-29720988 chr6:29721022-29721038 chr6:29720801-29720814
24	JUND	chr6:29720857-29721172	HepG2	liver:	n/a	n/a
25	POU2F2	chr6:29720840-29721097	GM12878	blood:	n/a	n/a
26	TFAP2A	chr6:29720186-29721347	Hela-S3	cervix:	n/a	chr6:29720555-29720566 chr6:29721050-29721060 chr6:29721050-29721060 chr6:29721050-29721060 chr6:29720437-29720449 chr6:29720555-29720566 chr6:29721048-29721060 chr6:29721050-29721060
27	CTCF	chr6:29720940-29721090	SAEC	small airway:	n/a	chr6:29720979-29720988 chr6:29721022-29721038
28	GATA1	chr6:29719758-29721098	PBDE	blood:	n/a	n/a
29	CTCF	chr6:29720567-29721252	GM12878	blood:	n/a	chr6:29720979-29720988 chr6:29721022-29721038 chr6:29720801-29720814
30	CTCF	chr6:29720712-29721264	HepG2	liver:	n/a	chr6:29720979-29720988 chr6:29721022-29721038 chr6:29720801-29720814
31	STAT3	chr6:29720658-29721080	MCF10A-Er-Src	breast:	n/a	chr6:29720723-29720735
32	CTCF	chr6:29720853-29721221	A549	lung:	n/a	chr6:29720979-29720988 chr6:29721022-29721038
33	TAF1	chr6:29720170-29721099	K562	blood:	n/a	n/a
34	CTCF	chr6:29720960-29721110	HPF	lung:	n/a	chr6:29720979-29720988 chr6:29721022-29721038
35	RAD21	chr6:29720784-29721232	IMR90	lung:	n/a	chr6:29720801-29720815
36	POLR2A	chr6:29720074-29721167	Hela-S3	cervix:	n/a	n/a
37	RAD21	chr6:29720690-29721196	Hela-S3	cervix:	n/a	chr6:29720801-29720815
38	NR2F2	chr6:29720181-29721219	K562	blood:	n/a	n/a
39	IRF1	chr6:29720748-29721139	K562	blood:	n/a	chr6:29720887-29720901
40	YY1	chr6:29720346-29721135	K562	blood:	n/a	n/a
41	MAX	chr6:29720208-29721234	K562	blood:	n/a	chr6:29720727-29720737
42	POLR2A	chr6:29720452-29721086	A549	lung:	n/a	n/a
43	CTCF	chr6:29720980-29721130	GM12878	blood:	n/a	chr6:29721022-29721038
44	CTCF	chr6:29720940-29721090	HepG2	liver:	n/a	chr6:29720979-29720988 chr6:29721022-29721038
45	CTCF	chr6:29720940-29721090	NHEK	skin:	n/a	chr6:29720979-29720988 chr6:29721022-29721038
46	TCF12	chr6:29720894-29721157	H1-hESC	embryonic stem cell:	n/a	n/a
47	TAF1	chr6:29720243-29721033	Hela-S3	cervix:	n/a	n/a
48	CTCF	chr6:29720980-29721130	GM12870	blood:	n/a	chr6:29721022-29721038
49	CTCF	chr6:29720940-29721090	HA-sp	spinal cord:	n/a	chr6:29720979-29720988 chr6:29721022-29721038
50	POLR2A	chr6:29720026-29721255	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:29720989-29721039	HEK293	kidney:	embryo
2	chr6:29721015-29721065	HMEC	breast:	n/a
3	chr6:29720989-29721039	U87	brain:	n/a
4	chr6:29721015-29721065	Hepatocyte	liver:	n/a
5	chr6:29720989-29721039	GM06990	blood:	n/a
6	chr6:29720996-29721046	AG09319	gingival:	n/a
7	chr6:29720989-29721039	MCF10A-Er-Src	breast:	n/a
8	chr6:29721015-29721065	ovcar-3	ovarian:	n/a
9	chr6:29721001-29721051	SAEC	small airway:	n/a
10	chr6:29721015-29721065	HepG2	liver:	n/a
11	chr6:29721015-29721065	AG04450	lung:	fetal
12	chr6:29720996-29721046	HMEC	breast:	n/a
13	chr6:29720989-29721039	CMK	blood:	n/a
14	chr6:29720989-29721039	AG04450	lung:	fetal
15	chr6:29721001-29721051	H1-hESC	embryonic stem cell:	embryo
16	chr6:29720996-29721046	ProgFib	skin:	n/a
17	chr6:29721001-29721051	HRPEpiC	eye:	n/a
18	chr6:29721001-29721051	HL-60	blood:	n/a
19	chr6:29720996-29721046	Jurkat	blood:	n/a
20	chr6:29720989-29721039	RPTEC	kidney:	n/a
21	chr6:29720989-29721039	HepG2	liver:	n/a
22	chr6:29721001-29721051	NT2-D1	testis:	n/a
23	chr6:29721001-29721051	GM19239	blood:	n/a
24	chr6:29721001-29721051	HCF	heart:	n/a
25	chr6:29720996-29721046	HCM	heart:	n/a
26	chr6:29721015-29721065	SK-N-SH_RA	brain:	n/a
27	chr6:29721001-29721051	PFSK-1	brain:	n/a
28	chr6:29720989-29721039	H1-hESC	embryonic stem cell:	embryo
29	chr6:29720989-29721039	IMR90	lung:	fetal
30	chr6:29720996-29721046	HEK293	kidney:	embryo
31	chr6:29721001-29721051	Caco-2	colon:	n/a
32	chr6:29720996-29721046	NHBE	bronchial:	n/a
33	chr6:29720989-29721039	HRCEpiC	kidney:	n/a
34	chr6:29720996-29721046	HepG2	liver:	n/a
35	chr6:29721015-29721065	MCF10A-Er-Src	breast:	n/a
36	chr6:29720989-29721039	PrEC	prostate:	n/a
37	chr6:29720989-29721039	AoSMC	blood vessel:	n/a
38	chr6:29721015-29721065	HAEpiC	amniotic membrane:	n/a
39	chr6:29721015-29721065	A549	lung:	n/a
40	chr6:29721015-29721065	NHBE	bronchial:	n/a
41	chr6:29720989-29721039	Jurkat	blood:	n/a
42	chr6:29721001-29721051	AG09319	gingival:	n/a
43	chr6:29720996-29721046	ECC-1	luminal epithelium:	n/a
44	chr6:29720996-29721046	GM12892	blood:	n/a
45	chr6:29720989-29721039	A549	lung:	n/a
46	chr6:29721001-29721051	AG10803	skin:	n/a
47	chr6:29721015-29721065	SK-N-MC	brain:	n/a
48	chr6:29721001-29721051	GM12878	blood:	n/a
49	chr6:29720996-29721046	AG09309	skin:	n/a
50	chr6:29720989-29721039	HCF	heart:	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:29720902..29721504-chr6:29815550..29816084,2	K562	blood:
2	chr6:29719431..29722230-chr6:29728984..29731849,2	MCF-7	breast:
3	chr6:29720457..29721452-chr8:47957248..47957748,2	MCF-7	breast:
4	chr6:29709930..29711722-chr6:29720449..29722464,2	K562	blood:
5	chr6:29705500..29706511-chr6:29720185..29721437,3	K562	blood:
6	chr6:29716316..29718223-chr6:29719581..29721724,2	MCF-7	breast:
7	chr5:126448355..126449191-chr6:29720417..29721209,2	MCF-7	breast:

Variant related genes	Relation type
MICE	TF binding region
IFITM4P	TF binding region
HLA-F-AS1	TF binding region
ENSG00000272236	TF binding region
HLA-F-AS1	CpG island
IFITM4P	CpG island
MICE	CpG island
ENSG00000272236	CpG island
ENSG00000214922	Chromatin interaction
ENSG00000199290	Chromatin interaction
ENSG00000273340	Chromatin interaction
ENSG00000270896	Chromatin interaction

Extended variants
information (count: 90 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs17178224	1.00[ASN][1000 genomes]
rs17179080	1.00[ASN][1000 genomes]
rs17184633	1.00[ASN][1000 genomes]
rs17185104	1.00[ASN][1000 genomes]
rs17185118	1.00[ASN][1000 genomes]
rs2535231	1.00[ASN][1000 genomes]
rs2535234	1.00[ASN][1000 genomes]
rs2535247	1.00[ASN][1000 genomes]
rs2535248	1.00[ASN][1000 genomes]
rs2535250	1.00[ASN][1000 genomes]
rs2535251	1.00[ASN][1000 genomes]
rs2535252	1.00[ASN][1000 genomes]
rs2535255	1.00[ASN][1000 genomes]
rs2535256	1.00[ASN][1000 genomes]
rs2535257	1.00[ASN][1000 genomes]
rs2535259	1.00[ASN][1000 genomes]
rs2747417	1.00[ASN][1000 genomes]
rs2747418	1.00[ASN][1000 genomes]
rs2747419	1.00[ASN][1000 genomes]
rs2747437	1.00[ASN][1000 genomes]
rs2747439	1.00[ASN][1000 genomes]
rs2747441	1.00[ASN][1000 genomes]
rs2747444	1.00[ASN][1000 genomes]
rs2747446	1.00[ASN][1000 genomes]
rs2747450	1.00[ASN][1000 genomes]
rs2747452	1.00[ASN][1000 genomes]
rs2747458	1.00[ASN][1000 genomes]
rs2747459	1.00[ASN][1000 genomes]
rs2747461	1.00[ASN][1000 genomes]
rs2747462	1.00[ASN][1000 genomes]
rs2747464	1.00[ASN][1000 genomes]
rs2747465	1.00[ASN][1000 genomes]
rs2747466	1.00[ASN][1000 genomes]
rs2857767	1.00[ASN][1000 genomes]
rs2857768	1.00[ASN][1000 genomes]
rs2857770	1.00[ASN][1000 genomes]
rs2857780	1.00[ASN][1000 genomes]
rs2857783	1.00[ASN][1000 genomes]
rs2857784	1.00[ASN][1000 genomes]
rs2907893	1.00[ASN][1000 genomes]
rs2907895	1.00[ASN][1000 genomes]
rs2907896	1.00[ASN][1000 genomes]
rs2982834	1.00[ASN][1000 genomes]
rs2982835	1.00[ASN][1000 genomes]
rs2982838	1.00[ASN][1000 genomes]
rs3117286	1.00[ASN][1000 genomes]
rs3117287	1.00[ASN][1000 genomes]
rs3117300	1.00[ASN][1000 genomes]
rs3117302	1.00[ASN][1000 genomes]
rs3117304	1.00[ASN][1000 genomes]
rs3117305	1.00[ASN][1000 genomes]
rs3117306	1.00[ASN][1000 genomes]
rs3117308	1.00[ASN][1000 genomes]
rs3117309	1.00[ASN][1000 genomes]
rs3117314	1.00[ASN][1000 genomes]
rs3117316	1.00[ASN][1000 genomes]
rs3129040	1.00[ASN][1000 genomes]
rs3129050	1.00[ASN][1000 genomes]
rs3129051	1.00[ASN][1000 genomes]
rs3129186	1.00[ASN][1000 genomes]
rs385743	1.00[ASN][1000 genomes]
rs387603	1.00[ASN][1000 genomes]
rs398931	1.00[ASN][1000 genomes]
rs406424	1.00[ASN][1000 genomes]
rs416560	1.00[ASN][1000 genomes]
rs422369	1.00[ASN][1000 genomes]
rs423281	1.00[ASN][1000 genomes]
rs423369	1.00[ASN][1000 genomes]
rs6899997	1.00[ASN][1000 genomes]
rs6923039	1.00[ASN][1000 genomes]
rs6938073	1.00[ASN][1000 genomes]
rs6938099	1.00[ASN][1000 genomes]
rs7741746	1.00[ASN][1000 genomes]
rs7745991	1.00[ASN][1000 genomes]
rs7757644	1.00[ASN][1000 genomes]
rs7758022	1.00[ASN][1000 genomes]
rs9468579	1.00[ASN][1000 genomes]
rs9468581	1.00[ASN][1000 genomes]
rs9500953	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv20940	chr6:29653954-29923410	Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv428475	chr6:29659525-29763392	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv428139	chr6:29659525-29892317	Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
4	nsv427749	chr6:29659525-29975144	Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
5	nsv508397	chr6:29663132-29761448	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
6	esv1821077	chr6:29670915-29726207	Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers 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	23 gene(s)	inside rSNPs	diseases
7	esv1794141	chr6:29670915-29765814	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
8	nsv10809	chr6:29692573-29794119	Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
9	nsv883532	chr6:29703262-29814963	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
10	nsv883534	chr6:29708222-29724310	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
11	esv3441842	chr6:29715749-29942950	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:29717800-29721200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr6:29719200-29721200	Active TSS	GM12878-XiMat	blood
3	chr6:29719400-29721200	Active TSS	H9 Cell Line	embryonic stem cell
4	chr6:29719400-29721200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr6:29719600-29721200	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
6	chr6:29719600-29721200	Active TSS	NHLF	lung
7	chr6:29719600-29721400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr6:29719600-29721400	Active TSS	HSMM	muscle
9	chr6:29719600-29721400	Active TSS	NHDF-Ad	bronchial
10	chr6:29719600-29721800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr6:29719800-29721200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr6:29719800-29721200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr6:29719800-29721200	Active TSS	Colonic Mucosa	Colon
14	chr6:29719800-29721200	Active TSS	Fetal Lung	lung
15	chr6:29719800-29721200	Active TSS	Psoas Muscle	Psoas
16	chr6:29719800-29721400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
17	chr6:29719800-29721600	Active TSS	Brain Cingulate Gyrus	brain
18	chr6:29719800-29721600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
19	chr6:29719800-29721600	Active TSS	HSMMtube	muscle
20	chr6:29720000-29721200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
21	chr6:29720000-29721200	Flanking Active TSS	Primary B cells from cord blood	blood
22	chr6:29720000-29721200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
23	chr6:29720000-29721200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr6:29720000-29721200	Active TSS	Brain Anterior Caudate	brain
25	chr6:29720000-29721200	Bivalent/Poised TSS	Brain Germinal Matrix	brain
26	chr6:29720000-29721200	Active TSS	Colon Smooth Muscle	Colon
27	chr6:29720000-29721200	Active TSS	Duodenum Smooth Muscle	Duodenum
28	chr6:29720000-29721200	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
29	chr6:29720000-29721200	Active TSS	Pancreatic Islets	Pancreatic Islet
30	chr6:29720000-29721200	Active TSS	Left Ventricle	heart
31	chr6:29720000-29721200	Active TSS	Ovary	ovary
32	chr6:29720000-29721200	Active TSS	Right Atrium	heart
33	chr6:29720000-29721200	Bivalent/Poised TSS	Thymus	Thymus
34	chr6:29720000-29721200	Active TSS	A549	lung
35	chr6:29720000-29721200	Active TSS	NH-A	brain
36	chr6:29720000-29721200	Active TSS	Osteobl	bone
37	chr6:29720000-29721400	Bivalent/Poised TSS	Fetal Stomach	stomach
38	chr6:29720000-29721400	Flanking Bivalent TSS/Enh	Dnd41	blood
39	chr6:29720200-29721200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr6:29720200-29721200	Active TSS	Primary monocytes fromperipheralblood	blood
41	chr6:29720200-29721200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr6:29720200-29721200	Active TSS	Muscle Satellite Cultured Cells	--
43	chr6:29720200-29721200	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
44	chr6:29720200-29721200	Active TSS	Liver	Liver
45	chr6:29720200-29721200	Active TSS	Brain Substantia Nigra	brain
46	chr6:29720200-29721200	Bivalent/Poised TSS	Fetal Kidney	kidney
47	chr6:29720200-29721200	Active TSS	Right Ventricle	heart
48	chr6:29720200-29721200	Active TSS	Skeletal Muscle Female	skeletal muscle
49	chr6:29720200-29721200	Active TSS	HUVEC	blood vessel
50	chr6:29720200-29721400	Active TSS	Breast Myoepithelial Primary Cells	Breast

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