Variant report

Variant	rs34178768
Chromosome Location	chr11:18548641-18548642
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:484)
CpG islands
(count:244)
Chromatin interactive
region (count:29)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:484 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYBL2	chr11:18547742-18548875	HepG2	liver:	n/a	n/a
2	YY1	chr11:18547816-18548870	SK-N-SH	brain:	n/a	chr11:18548413-18548424 chr11:18548280-18548294
3	ZNF143	chr11:18548127-18548777	GM12878	blood:	n/a	n/a
4	TCF3	chr11:18548316-18548687	GM12878	blood:	n/a	n/a
5	JUND	chr11:18548244-18548730	A549	lung:	n/a	n/a
6	BATF	chr11:18548313-18548641	GM12878	blood:	n/a	n/a
7	CEBPD	chr11:18548003-18548788	HepG2	liver:	n/a	n/a
8	MAX	chr11:18547890-18548849	Hela-S3	cervix:	n/a	chr11:18548119-18548129
9	JUN	chr11:18547649-18548948	K562	blood:	n/a	chr11:18548088-18548102
10	SPI1	chr11:18548116-18548914	HL-60	blood:	n/a	chr11:18548493-18548502 chr11:18548468-18548477 chr11:18548491-18548504
11	MXI1	chr11:18547900-18549507	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr11:18547886-18548835	SK-N-MC	brain:	n/a	n/a
13	GABPA	chr11:18547791-18549043	MCF-7	breast:	n/a	chr11:18548495-18548502
14	POLR2A	chr11:18547891-18549011	H1-neurons	neurons:	n/a	n/a
15	CHD2	chr11:18547904-18548939	GM12878	blood:	n/a	n/a
16	GABPA	chr11:18548036-18548701	H1-hESC	embryonic stem cell:	n/a	chr11:18548495-18548502
17	CHD2	chr11:18547887-18548913	Hela-S3	cervix:	n/a	n/a
18	POU2F2	chr11:18548233-18548735	GM12878	blood:	n/a	chr11:18548277-18548289
19	HMGN3	chr11:18547937-18548671	K562	blood:	n/a	n/a
20	MYC	chr11:18547850-18548928	K562	blood:	n/a	chr11:18548119-18548129
21	POU2F2	chr11:18547973-18548839	GM12891	blood:	n/a	chr11:18548277-18548289 chr11:18548125-18548137
22	POLR2A	chr11:18547893-18548891	HepG2	liver:	n/a	n/a
23	MXI1	chr11:18547960-18549193	GM12878	blood:	n/a	n/a
24	MXI1	chr11:18547866-18548840	H1-hESC	embryonic stem cell:	n/a	n/a
25	EBF1	chr11:18548306-18548935	GM12878	blood:	n/a	n/a
26	MYC	chr11:18548465-18548694	HepG2	liver:	n/a	n/a
27	POLR2A	chr11:18547944-18548897	GM12878	blood:	n/a	n/a
28	CHD2	chr11:18547969-18548743	HepG2	liver:	n/a	n/a
29	FOXM1	chr11:18548224-18548871	GM12878	blood:	n/a	n/a
30	TAL1	chr11:18548189-18548859	K562	blood:	n/a	n/a
31	MXI1	chr11:18547915-18548976	HepG2	liver:	n/a	n/a
32	MAX	chr11:18547870-18548949	A549	lung:	n/a	chr11:18548119-18548129
33	NFATC1	chr11:18547921-18548862	GM12878	blood:	n/a	n/a
34	BHLHE40	chr11:18548135-18548907	K562	blood:	n/a	n/a
35	RELA	chr11:18547791-18548902	GM19099	blood:	n/a	n/a
36	MAZ	chr11:18547998-18548881	Hela-S3	cervix:	n/a	chr11:18548119-18548129
37	ZNF143	chr11:18547885-18548865	Hela-S3	cervix:	n/a	n/a
38	MAX	chr11:18547836-18548946	ECC-1	luminal epithelium:	n/a	chr11:18548119-18548129
39	ZBTB7A	chr11:18547896-18548796	ECC-1	luminal epithelium:	n/a	chr11:18548280-18548291
40	NFIC	chr11:18547857-18548862	GM12878	blood:	n/a	n/a
41	HA-E2F1	chr11:18547898-18548940	MCF-7	breast:	n/a	chr11:18548284-18548298 chr11:18548265-18548280
42	POLR2A	chr11:18547906-18548925	U87	brain:	n/a	n/a
43	POLR2A	chr11:18547784-18548864	A549	lung:	n/a	n/a
44	SIN3AK20	chr11:18547623-18549044	MCF-7	breast:	n/a	n/a
45	ELF1	chr11:18547750-18549018	HCT-116	colon:	n/a	chr11:18548513-18548522 chr11:18548466-18548477 chr11:18548465-18548478 chr11:18548493-18548502 chr11:18548512-18548523
46	MYC	chr11:18548019-18548819	MCF-7	breast:	n/a	chr11:18548119-18548129
47	POLR2A	chr11:18548121-18548844	HepG2	liver:	n/a	n/a
48	GABPA	chr11:18547954-18548910	K562	blood:	n/a	chr11:18548495-18548502
49	SMC3	chr11:18548598-18548747	K562	blood:	n/a	n/a
50	GABPA	chr11:18548027-18548833	GM12878	blood:	n/a	chr11:18548495-18548502

(count:244 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:18548595-18548645	HMEC	breast:	n/a
2	chr11:18548609-18548659	AG10803	skin:	n/a
3	chr11:18548609-18548659	HCT-116	colon:	n/a
4	chr11:18548623-18548673	NH-A	brain:	n/a
5	chr11:18548628-18548678	MCF10A-Er-Src	breast:	n/a
6	chr11:18548609-18548659	AoSMC	blood vessel:	n/a
7	chr11:18548609-18548659	AG04449	skin:	fetal
8	chr11:18548623-18548673	HEEpiC	esophagus:	n/a
9	chr11:18548623-18548673	SK-N-SH_RA	brain:	n/a
10	chr11:18548609-18548659	HepG2	liver:	n/a
11	chr11:18548595-18548645	NHBE	bronchial:	n/a
12	chr11:18548609-18548659	GM06990	blood:	n/a
13	chr11:18548628-18548678	SKMC	muscle:	n/a
14	chr11:18548628-18548678	SAEC	small airway:	n/a
15	chr11:18548595-18548645	PFSK-1	brain:	n/a
16	chr11:18548609-18548659	SKMC	muscle:	n/a
17	chr11:18548623-18548673	GM12878	blood:	n/a
18	chr11:18548628-18548678	ovcar-3	ovarian:	n/a
19	chr11:18548609-18548659	HNPCEpiC	eye:	n/a
20	chr11:18548595-18548645	HUVEC	blood vessel:	n/a
21	chr11:18548609-18548659	ProgFib	skin:	n/a
22	chr11:18548595-18548645	HCM	heart:	n/a
23	chr11:18548595-18548645	HL-60	blood:	n/a
24	chr11:18548595-18548645	GM12878	blood:	n/a
25	chr11:18548628-18548678	HRCEpiC	kidney:	n/a
26	chr11:18548595-18548645	AG09309	skin:	n/a
27	chr11:18548623-18548673	AG10803	skin:	n/a
28	chr11:18548628-18548678	PFSK-1	brain:	n/a
29	chr11:18548609-18548659	A549	lung:	n/a
30	chr11:18548595-18548645	HEEpiC	esophagus:	n/a
31	chr11:18548595-18548645	NH-A	brain:	n/a
32	chr11:18548609-18548659	AG09319	gingival:	n/a
33	chr11:18548595-18548645	H1-hESC	embryonic stem cell:	embryo
34	chr11:18548628-18548678	BE2_C	brain:	n/a
35	chr11:18548623-18548673	GM19239	blood:	n/a
36	chr11:18548595-18548645	AG04449	skin:	fetal
37	chr11:18548628-18548678	NHDF-neo	bronchial:	n/a
38	chr11:18548628-18548678	Caco-2	colon:	n/a
39	chr11:18548595-18548645	GM12891	blood:	n/a
40	chr11:18548623-18548673	HCF	heart:	n/a
41	chr11:18548609-18548659	GM19239	blood:	n/a
42	chr11:18548595-18548645	U87	brain:	n/a
43	chr11:18548595-18548645	Hela-S3	cervix:	n/a
44	chr11:18548628-18548678	LNCaP	prostate:	n/a
45	chr11:18548595-18548645	PANC-1	pancreas:	n/a
46	chr11:18548628-18548678	AoSMC	blood vessel:	n/a
47	chr11:18548609-18548659	BE2_C	brain:	n/a
48	chr11:18548609-18548659	NB4	blood:	n/a
49	chr11:18548595-18548645	HEK293	kidney:	embryo
50	chr11:18548628-18548678	PrEC	prostate:	n/a

(count:29 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:18548142..18548670-chr11:18609940..18610633,2	MCF-7	breast:
2	chr11:18546372..18549758-chr11:18653531..18658575,7	K562	blood:
3	chr1:159894571..159895309-chr11:18547917..18548843,2	Hela-S3	cervix:
4	chr11:18546581..18551368-chr11:18654825..18657467,6	K562	blood:
5	chr11:18502477..18505271-chr11:18547847..18549412,2	K562	blood:
6	chr11:18341846..18344494-chr11:18547115..18549354,2	MCF-7	breast:
7	chr1:35658309..35659149-chr11:18548308..18548855,2	Hela-S3	cervix:
8	chr11:18548007..18548707-chr15:89877506..89878449,2	Hela-S3	cervix:
9	chr11:18432193..18433875-chr11:18547475..18550164,2	MCF-7	breast:
10	chr11:18547238..18549661-chr11:18600782..18603302,3	MCF-7	breast:
11	chr11:18548103..18548963-chr18:12702273..12702811,2	Hela-S3	cervix:
12	chr11:18414795..18417618-chr11:18546727..18549809,4	MCF-7	breast:
13	chr11:18546303..18549278-chr11:18609985..18612598,2	K562	blood:
14	chr11:18548392..18548985-chr16:58231117..58232045,2	Hela-S3	cervix:
15	chr11:18548256..18548930-chr9:130953663..130954444,2	Hela-S3	cervix:
16	chr11:18343253..18347316-chr11:18546908..18550670,5	K562	blood:
17	chr1:1334202..1334912-chr11:18547765..18548751,2	Hela-S3	cervix:
18	chr1:36396047..36396934-chr11:18547924..18549049,4	Hela-S3	cervix:
19	chr11:18531181..18534158-chr11:18547173..18549352,2	MCF-7	breast:
20	chr11:18547936..18548865-chr12:1800180..1800752,2	Hela-S3	cervix:
21	chr10:70091815..70092544-chr11:18548061..18548917,2	Hela-S3	cervix:
22	chr11:18415765..18417941-chr11:18547561..18549649,2	K562	blood:
23	chr11:18546489..18551340-chr11:18552893..18563258,14	MCF-7	breast:
24	chr11:18414231..18417142-chr11:18548434..18550099,2	K562	blood:
25	chr11:18548173..18549021-chr5:1633797..1634587,2	Hela-S3	cervix:
26	chr11:18548430..18549296-chr17:72199825..72200786,2	Hela-S3	cervix:
27	chr11:18548066..18548848-chr20:48789021..48789605,2	Hela-S3	cervix:
28	chr11:18547881..18548707-chr21:44313013..44313598,2	Hela-S3	cervix:
29	chr11:18415399..18418482-chr11:18547632..18550708,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LDHAL6A-1	chr11:18548579-18550760	NONHSAT018294

No data

Variant related genes	Relation type
TSG101	TF binding region
TSG101	CpG island
ENSG00000166796	Chromatin interaction
ENSG00000221978	Chromatin interaction
ENSG00000148337	Chromatin interaction
ENSG00000006831	Chromatin interaction
ENSG00000261441	Chromatin interaction
ENSG00000128789	Chromatin interaction
ENSG00000151116	Chromatin interaction
ENSG00000231742	Chromatin interaction
ENSG00000224870	Chromatin interaction
ENSG00000110768	Chromatin interaction
ENSG00000160194	Chromatin interaction
ENSG00000096746	Chromatin interaction
ENSG00000188002	Chromatin interaction
ENSG00000116560	Chromatin interaction
ENSG00000070770	Chromatin interaction
ENSG00000126070	Chromatin interaction
ENSG00000256361	Chromatin interaction
ENSG00000134333	Chromatin interaction
ENSG00000140521	Chromatin interaction
ENSG00000172809	Chromatin interaction
ENSG00000110756	Chromatin interaction
ENSG00000101624	Chromatin interaction
ENSG00000179119	Chromatin interaction
ENSG00000074319	Chromatin interaction
ENSG00000158710	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1845710	1.00[EUR][1000 genomes]
rs56382668	1.00[EUR][1000 genomes]
rs58490184	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59374382	1.00[EUR][1000 genomes]
rs7127716	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8018	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949248	chr11:17791822-18692687	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv553633	chr11:18311701-19058451	Weak transcription Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
3	nsv1038015	chr11:18435855-18558211	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv1042155	chr11:18435855-18697576	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
5	nsv1046886	chr11:18547568-18781448	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
6	nsv540956	chr11:18547568-18781448	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 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	chr11:18547000-18549000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr11:18547000-18549200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:18547000-18549600	Active TSS	GM12878-XiMat	blood
4	chr11:18547200-18549000	Active TSS	Muscle Satellite Cultured Cells	--
5	chr11:18547200-18549000	Active TSS	Brain Substantia Nigra	brain
6	chr11:18547200-18549000	Active TSS	Duodenum Smooth Muscle	Duodenum
7	chr11:18547200-18549000	Active TSS	Fetal Stomach	stomach
8	chr11:18547200-18549200	Active TSS	Fetal Brain Female	brain
9	chr11:18547200-18549400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr11:18547200-18549600	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr11:18547200-18549600	Active TSS	H1 Cell Line	embryonic stem cell
12	chr11:18547200-18549600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr11:18547200-18549600	Active TSS	HUES6 Cell Line	embryonic stem cell
14	chr11:18547200-18549600	Active TSS	HUES64 Cell Line	embryonic stem cell
15	chr11:18547200-18549600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr11:18547200-18549600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr11:18547200-18549600	Active TSS	Fetal Intestine Large	intestine
18	chr11:18547200-18549600	Active TSS	K562	blood
19	chr11:18547200-18549800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
20	chr11:18547200-18549800	Active TSS	Psoas Muscle	Psoas
21	chr11:18547200-18549800	Active TSS	Stomach Smooth Muscle	stomach
22	chr11:18547400-18548800	Active TSS	Hela-S3	cervix
23	chr11:18547400-18548800	Active TSS	HepG2	liver
24	chr11:18547400-18549000	Active TSS	Fetal Muscle Leg	muscle
25	chr11:18547400-18549000	Active TSS	Fetal Thymus	thymus
26	chr11:18547400-18549200	Active TSS	Placenta	Placenta
27	chr11:18547400-18549400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
28	chr11:18547400-18549400	Active TSS	H9 Cell Line	embryonic stem cell
29	chr11:18547400-18549400	Active TSS	Breast Myoepithelial Primary Cells	Breast
30	chr11:18547400-18549400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr11:18547400-18549400	Active TSS	Colonic Mucosa	Colon
32	chr11:18547400-18549400	Active TSS	Fetal Intestine Small	intestine
33	chr11:18547400-18549400	Active TSS	Fetal Muscle Trunk	muscle
34	chr11:18547400-18549400	Active TSS	Ovary	ovary
35	chr11:18547400-18549400	Active TSS	Right Atrium	heart
36	chr11:18547400-18549600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr11:18547400-18549600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr11:18547400-18549600	Active TSS	HUES48 Cell Line	embryonic stem cell
39	chr11:18547400-18549600	Active TSS	iPS-18 Cell Line	embryonic stem cell
40	chr11:18547400-18549600	Active TSS	iPS-20b Cell Line	embryonic stem cell
41	chr11:18547400-18549600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr11:18547400-18549600	Active TSS	HSMMtube	muscle
43	chr11:18547400-18549800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr11:18547400-18549800	Active TSS	Right Ventricle	heart
45	chr11:18547400-18549800	Active TSS	A549	lung
46	chr11:18547600-18548800	Active TSS	Primary hematopoietic stem cells short term culture	blood
47	chr11:18547600-18548800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
48	chr11:18547600-18548800	Active TSS	Primary T helper cells PMA-I stimulated	--
49	chr11:18547600-18548800	Active TSS	Brain Cingulate Gyrus	brain
50	chr11:18547600-18548800	Active TSS	Fetal Lung	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links