Variant report

Variant	rs190397287
Chromosome Location	chr11:67139443-67139444
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	YY1	chr11:67139287-67139469	K562	blood:	n/a	chr11:67139415-67139426
2	POLR2A	chr11:67138563-67140098	HL-60	blood:	n/a	n/a
3	SP1	chr11:67138681-67140293	A549	lung:	n/a	chr11:67139670-67139684 chr11:67139762-67139776 chr11:67139211-67139221
4	BCL3	chr11:67138621-67140141	A549	lung:	n/a	chr11:67139091-67139104
5	CTCF	chr11:67139300-67139450	HEEpiC	esophagus:	n/a	n/a
6	CTCF	chr11:67139340-67139490	HCM	heart:	n/a	n/a
7	USF1	chr11:67138844-67139527	A549	lung:	n/a	n/a
8	POLR2A	chr11:67134317-67140357	U87	brain:	n/a	n/a
9	EP300	chr11:67138695-67140234	A549	lung:	n/a	chr11:67140185-67140201
10	FOSL2	chr11:67138547-67139777	A549	lung:	n/a	n/a
11	TAF1	chr11:67138969-67141226	A549	lung:	n/a	n/a
12	POLR2A	chr11:67139261-67139474	MCF-7	breast:	n/a	n/a
13	MYC	chr11:67139178-67139594	MCF-7	breast:	n/a	chr11:67139214-67139223
14	POLR2A	chr11:67131258-67139775	A549	lung:	n/a	n/a
15	POLR2A	chr11:67138593-67142764	PANC-1	pancreas:	n/a	n/a
16	REST	chr11:67138541-67140080	A549	lung:	n/a	n/a
17	RAD21	chr11:67138772-67139839	A549	lung:	n/a	chr11:67139107-67139117 chr11:67139136-67139150 chr11:67139066-67139075
18	TCF12	chr11:67137930-67144339	A549	lung:	n/a	chr11:67138193-67138203 chr11:67139958-67139965 chr11:67139242-67139249 chr11:67141661-67141671 chr11:67144056-67144066 chr11:67138192-67138199 chr11:67142524-67142532 chr11:67139957-67139967 chr11:67142516-67142526 chr11:67139956-67139963
19	POLR2A	chr11:67138898-67140078	A549	lung:	n/a	n/a
20	HEY1	chr11:67139391-67139642	K562	blood:	n/a	n/a
21	POLR2A	chr11:67139103-67139640	ProgFib	skin:	n/a	n/a
22	POLR2A	chr11:67138915-67142701	MCF-7	breast:	n/a	n/a
23	CTCF	chr11:67139420-67139570	GM12874	blood:	n/a	n/a
24	REST	chr11:67138734-67139713	A549	lung:	n/a	n/a
25	SP1	chr11:67138783-67140235	A549	lung:	n/a	chr11:67139670-67139684 chr11:67139762-67139776 chr11:67139211-67139221
26	MXI1	chr11:67136428-67142794	IMR90	lung:	n/a	n/a
27	MAX	chr11:67139387-67141420	K562	blood:	n/a	chr11:67141256-67141266 chr11:67141367-67141377
28	POLR2A	chr11:67139410-67139575	HUVEC	blood vessel:	n/a	n/a
29	POLR2A	chr11:67137865-67142671	K562	blood:	n/a	n/a
30	SIN3AK20	chr11:67138937-67139637	A549	lung:	n/a	n/a
31	CTCF	chr11:67138358-67139875	A549	lung:	n/a	chr11:67139137-67139150
32	MAZ	chr11:67138879-67142345	K562	blood:	n/a	chr11:67141256-67141266 chr11:67141367-67141377 chr11:67139214-67139223
33	POLR2A	chr11:67138890-67139455	HCT-116	colon:	n/a	n/a
34	POLR2A	chr11:67139125-67139733	A549	lung:	n/a	n/a
35	CTCF	chr11:67138752-67139463	SK-N-SH	brain:	n/a	chr11:67139137-67139150
36	POLR2A	chr11:67138754-67139881	U87	brain:	n/a	n/a
37	PBX3	chr11:67138788-67140664	A549	lung:	n/a	n/a
38	ZNF263	chr11:67138933-67139565	HEK293-T-REx	kidney:	n/a	chr11:67139445-67139454 chr11:67139145-67139166 chr11:67139223-67139232
39	ZBTB7A	chr11:67138888-67140220	ECC-1	luminal epithelium:	n/a	n/a
40	POLR2A	chr11:67135652-67140351	U87	brain:	n/a	n/a
41	POLR2A	chr11:67138770-67141183	A549	lung:	n/a	n/a
42	SMARCC1	chr11:67138580-67139722	Hela-S3	cervix:	n/a	n/a
43	YY1	chr11:67138883-67139580	A549	lung:	n/a	chr11:67139415-67139426
44	CREB1	chr11:67139249-67139618	A549	lung:	n/a	n/a
45	MYC	chr11:67139440-67139443	MCF-7	breast:	n/a	n/a
46	CTCF	chr11:67138960-67139596	GM19239	blood:	n/a	chr11:67139137-67139150
47	ELF1	chr11:67138830-67139726	GM12878	blood:	n/a	n/a
48	MAX	chr11:67137318-67145655	A549	lung:	n/a	chr11:67138167-67138177 chr11:67141256-67141266 chr11:67138019-67138029 chr11:67141367-67141377 chr11:67139214-67139223
49	POLR2A	chr11:67138953-67139763	A549	lung:	n/a	n/a
50	JUND	chr11:67138885-67143692	A549	lung:	n/a	chr11:67141685-67141694 chr11:67141991-67142001 chr11:67141990-67142002 chr11:67141990-67142001 chr11:67141992-67142000 chr11:67141993-67142004 chr11:67142329-67142340 chr11:67141991-67142001 chr11:67140956-67140965 chr11:67142827-67142836 chr11:67141991-67142001

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:67139423-67139473	HCM	heart:	n/a
2	chr11:67139423-67139473	PrEC	prostate:	n/a
3	chr11:67139423-67139473	K562	blood:	n/a
4	chr11:67139423-67139473	ovcar-3	ovarian:	n/a
5	chr11:67139423-67139473	HEK293	kidney:	embryo
6	chr11:67139423-67139473	SK-N-SH	brain:	n/a
7	chr11:67139423-67139473	HRCEpiC	kidney:	n/a
8	chr11:67139423-67139473	CMK	blood:	n/a
9	chr11:67139423-67139473	AG09309	skin:	n/a
10	chr11:67139423-67139473	NHDF-neo	bronchial:	n/a
11	chr11:67139423-67139473	HAEpiC	amniotic membrane:	n/a
12	chr11:67139423-67139473	HMEC	breast:	n/a
13	chr11:67139423-67139473	Jurkat	blood:	n/a
14	chr11:67139423-67139473	HIPEpiC	eye:	n/a
15	chr11:67139423-67139473	AG09319	gingival:	n/a
16	chr11:67139423-67139473	NB4	blood:	n/a
17	chr11:67139423-67139473	A549	lung:	n/a
18	chr11:67139423-67139473	GM19239	blood:	n/a
19	chr11:67139423-67139473	SKMC	muscle:	n/a
20	chr11:67139423-67139473	Caco-2	colon:	n/a
21	chr11:67139423-67139473	IMR90	lung:	fetal
22	chr11:67139423-67139473	HRPEpiC	eye:	n/a
23	chr11:67139423-67139473	Hela-S3	cervix:	n/a
24	chr11:67139423-67139473	HCF	heart:	n/a
25	chr11:67139423-67139473	AG10803	skin:	n/a
26	chr11:67139423-67139473	AoSMC	blood vessel:	n/a
27	chr11:67139423-67139473	MCF10A-Er-Src	breast:	n/a
28	chr11:67139423-67139473	GM12892	blood:	n/a
29	chr11:67139423-67139473	HEEpiC	esophagus:	n/a
30	chr11:67139423-67139473	HPAEpiC	pulmonary alveolar:	n/a
31	chr11:67139423-67139473	HCPEpiC	choroid plexus:	n/a
32	chr11:67139423-67139473	HCT-116	colon:	n/a
33	chr11:67139423-67139473	GM06990	blood:	n/a
34	chr11:67139423-67139473	Hepatocyte	liver:	n/a
35	chr11:67139423-67139473	ProgFib	skin:	n/a
36	chr11:67139423-67139473	GM12878	blood:	n/a
37	chr11:67139423-67139473	AG04450	lung:	fetal
38	chr11:67139423-67139473	PANC-1	pancreas:	n/a
39	chr11:67139423-67139473	SAEC	small airway:	n/a
40	chr11:67139423-67139473	PFSK-1	brain:	n/a
41	chr11:67139423-67139473	HepG2	liver:	n/a
42	chr11:67139423-67139473	T-47D	breast:	n/a
43	chr11:67139423-67139473	NHBE	bronchial:	n/a
44	chr11:67139423-67139473	HL-60	blood:	n/a
45	chr11:67139423-67139473	NT2-D1	testis:	n/a
46	chr11:67139423-67139473	BE2_C	brain:	n/a
47	chr11:67139423-67139473	HNPCEpiC	eye:	n/a
48	chr11:67139423-67139473	GM12891	blood:	n/a
49	chr11:67139423-67139473	ECC-1	luminal epithelium:	n/a
50	chr11:67139423-67139473	HRE	kidney:	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:67078307..67080022-chr11:67137493..67139530,2	MCF-7	breast:
2	chr11:67085099..67087143-chr11:67137966..67139875,2	K562	blood:
3	chr11:67138591..67140616-chr11:67149692..67150721,9	MCF-7	breast:
4	chr11:66821897..66826528-chr11:67139094..67144065,11	MCF-7	breast:
5	chr11:67138235..67140028-chr11:67271265..67273106,2	MCF-7	breast:
6	chr11:66622570..66624423-chr11:67139168..67140990,2	MCF-7	breast:
7	chr11:67006828..67010582-chr11:67138867..67142453,4	MCF-7	breast:
8	chr11:67053474..67057507-chr11:67138689..67143945,8	MCF-7	breast:
9	chr11:67138872..67142169-chr11:67249496..67254071,4	MCF-7	breast:
10	chr11:66845534..66847277-chr11:67139384..67140950,2	MCF-7	breast:
11	chr11:67137032..67142528-chr11:67234580..67238729,6	MCF-7	breast:
12	chr11:67138903..67140672-chr11:67189332..67192243,2	K562	blood:
13	chr11:67124495..67124996-chr11:67138599..67139534,2	MCF-7	breast:
14	chr11:67138865..67141337-chr11:67205315..67206965,2	K562	blood:
15	chr11:67138692..67139585-chr11:67149707..67150561,3	MCF-7	breast:
16	chr11:67124026..67125141-chr11:67138743..67139521,3	MCF-7	breast:
17	chr11:67138430..67143112-chr11:67157518..67161987,7	K562	blood:
18	chr11:67088208..67091047-chr11:67138396..67140194,2	MCF-7	breast:
19	chr11:67138420..67140492-chr11:67271610..67274474,2	K562	blood:
20	chr11:67138426..67140382-chr11:67217472..67219205,2	K562	blood:
21	chr11:67044106..67046398-chr11:67138784..67140765,2	K562	blood:
22	chr11:66886882..66888512-chr11:67137835..67140678,2	MCF-7	breast:
23	chr11:67030856..67037366-chr11:67138319..67144892,13	MCF-7	breast:
24	chr11:67116951..67127260-chr11:67135118..67146037,42	K562	blood:
25	chr11:67139414..67143301-chr11:67273275..67276817,6	MCF-7	breast:

Variant related genes	Relation type
CLCF1	TF binding region
CLCF1	CpG island
ENSG00000173120	Chromatin interaction
ENSG00000110697	Chromatin interaction
ENSG00000167797	Chromatin interaction
ENSG00000172830	Chromatin interaction
ENSG00000173156	Chromatin interaction
ENSG00000172663	Chromatin interaction
ENSG00000175482	Chromatin interaction
ENSG00000172613	Chromatin interaction
ENSG00000110711	Chromatin interaction
ENSG00000172932	Chromatin interaction
ENSG00000213402	Chromatin interaction
ENSG00000173621	Chromatin interaction
ENSG00000173020	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531397	chr11:66653381-67465721	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
2	nsv933183	chr11:67008447-67160993	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	nsv897796	chr11:67021518-67186000	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
4	nsv897797	chr11:67023040-67293234	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	206 gene(s)	inside rSNPs	diseases
5	nsv1043037	chr11:67027193-67357425	Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
6	nsv468603	chr11:67033076-67164495	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
7	nsv555253	chr11:67033076-67164495	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
8	nsv897801	chr11:67033076-67432479	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
9	nsv1047890	chr11:67058231-67184436	Flanking Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
10	nsv1048230	chr11:67058231-67252397	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	146 gene(s)	inside rSNPs	diseases
11	nsv897804	chr11:67090571-67224278	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
12	nsv1039205	chr11:67135246-67252397	Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	122 gene(s)	inside rSNPs	diseases
13	esv1818769	chr11:67138811-67300457	Flanking Active TSS Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	167 gene(s)	inside rSNPs	diseases
14	esv3404685	chr11:67139076-67142024	Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	38 gene(s)	inside rSNPs	diseases
15	esv3326147	chr11:67139201-67141749	Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67132800-67139600	Weak transcription	Aorta	Aorta
2	chr11:67135400-67139600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
3	chr11:67136200-67139800	Weak transcription	NHEK	skin
4	chr11:67136600-67139600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr11:67136600-67139600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
6	chr11:67136600-67140000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr11:67136800-67139800	Transcr. at gene 5' and 3'	A549	lung
8	chr11:67136800-67143600	Bivalent Enhancer	Fetal Thymus	thymus
9	chr11:67137000-67139600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
10	chr11:67137000-67139600	Enhancers	Ovary	ovary
11	chr11:67137000-67140000	Flanking Active TSS	Stomach Smooth Muscle	stomach
12	chr11:67137200-67139600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr11:67137400-67139800	Enhancers	Fetal Heart	heart
14	chr11:67137600-67139600	Bivalent Enhancer	Brain Germinal Matrix	brain
15	chr11:67137600-67140200	Bivalent Enhancer	Dnd41	blood
16	chr11:67137800-67139800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr11:67138000-67139600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr11:67138000-67139600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
19	chr11:67138000-67139600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr11:67138000-67139600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
21	chr11:67138000-67139800	Flanking Active TSS	Colon Smooth Muscle	Colon
22	chr11:67138000-67139800	Enhancers	Stomach Mucosa	stomach
23	chr11:67138000-67139800	Flanking Active TSS	NHLF	lung
24	chr11:67138000-67140000	Flanking Active TSS	NH-A	brain
25	chr11:67138200-67139600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr11:67138200-67139600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
27	chr11:67138200-67139600	Enhancers	Placenta	Placenta
28	chr11:67138200-67139600	Flanking Active TSS	NHDF-Ad	bronchial
29	chr11:67138200-67139800	Flanking Active TSS	Fetal Lung	lung
30	chr11:67138200-67140000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr11:67138200-67140000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
32	chr11:67138400-67139600	Enhancers	Esophagus	oesophagus
33	chr11:67138400-67139600	Transcr. at gene 5' and 3'	Osteobl	bone
34	chr11:67138400-67139800	Flanking Active TSS	Placenta Amnion	Placenta Amnion
35	chr11:67138400-67140000	Flanking Active TSS	Hela-S3	cervix
36	chr11:67138600-67139600	Weak transcription	Primary T cells from cord blood	blood
37	chr11:67138800-67139600	Transcr. at gene 5' and 3'	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr11:67138800-67139600	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
39	chr11:67138800-67139600	Enhancers	Left Ventricle	heart
40	chr11:67138800-67139600	Enhancers	Sigmoid Colon	Sigmoid Colon
41	chr11:67138800-67139800	Enhancers	Liver	Liver
42	chr11:67138800-67139800	Enhancers	Brain Angular Gyrus	brain
43	chr11:67138800-67139800	Flanking Active TSS	Fetal Intestine Small	intestine
44	chr11:67138800-67139800	Flanking Active TSS	HMEC	breast
45	chr11:67138800-67140000	Flanking Active TSS	Primary B cells from cord blood	blood
46	chr11:67138800-67140000	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
47	chr11:67138800-67140000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
48	chr11:67139000-67139600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
49	chr11:67139000-67139600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
50	chr11:67139000-67139600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin

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