Variant report

Variant	rs7396248
Chromosome Location	chr11:67029223-67029224
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:120)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:120 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr11:67029160-67029310	HVMF	connective:	n/a	n/a
2	CTCF	chr11:67029160-67029310	WI-38	lung:	n/a	n/a
3	CTCF	chr11:67029160-67029310	HRPEpiC	eye:	n/a	n/a
4	CTCF	chr11:67029180-67029330	SAEC	small airway:	n/a	n/a
5	CTCF	chr11:67029100-67029338	K562	blood:	n/a	n/a
6	CTCF	chr11:67029160-67029310	BJ	skin:	n/a	n/a
7	CTCF	chr11:67029160-67029310	NHDF-neo	bronchial:	n/a	n/a
8	CTCF	chr11:67029161-67029326	MCF-7	breast:	n/a	n/a
9	CTCF	chr11:67029140-67029290	NHEK	skin:	n/a	n/a
10	CTCF	chr11:67029130-67029362	GM19238	blood:	n/a	n/a
11	CTCF	chr11:67029140-67029290	HA-sp	spinal cord:	n/a	n/a
12	CTCF	chr11:67029140-67029290	HPF	lung:	n/a	n/a
13	CTCF	chr11:67029180-67029306	K562	blood:	n/a	n/a
14	CTCF	chr11:67029220-67029370	HFF-Myc	foreskin:	n/a	n/a
15	CTCF	chr11:67029178-67029293	GM12878	blood:	n/a	n/a
16	CTCF	chr11:67029160-67029310	HUVEC	blood vessel:	n/a	n/a
17	MAX	chr11:67028608-67029295	A549	lung:	n/a	n/a
18	ZBTB7A	chr11:67029147-67029380	K562	blood:	n/a	n/a
19	CTCF	chr11:67029200-67029350	K562	blood:	n/a	n/a
20	CTCF	chr11:67029140-67029290	HCFaa	heart:	n/a	n/a
21	CTCF	chr11:67029106-67029289	SK-N-SH_RA	brain:	n/a	n/a
22	CTCF	chr11:67029140-67029290	AG04449	skin:	n/a	n/a
23	CTCF	chr11:67028793-67031439	SK-N-SH	brain:	n/a	n/a
24	CTCF	chr11:67029160-67029310	GM12875	blood:	n/a	n/a
25	CTCF	chr11:67029203-67029236	Medullo	brain:	n/a	n/a
26	CTCF	chr11:67029140-67029290	HEK293	kidney:	n/a	n/a
27	CTCF	chr11:67029140-67029290	AoAF	blood vessel:	n/a	n/a
28	CTCF	chr11:67029160-67029310	AG04449	skin:	n/a	n/a
29	CTCF	chr11:67029180-67029319	HUVEC	blood vessel:	n/a	n/a
30	CTCF	chr11:67029140-67029290	HAc	cerebellar:	n/a	n/a
31	CTCF	chr11:67029180-67029328	ProgFib	skin:	n/a	n/a
32	CTCF	chr11:67029140-67029430	Hela-S3	cervix:	n/a	n/a
33	CTCF	chr11:67029140-67029290	GM06990	blood:	n/a	n/a
34	CTCF	chr11:67029160-67029310	Hela-S3	cervix:	n/a	n/a
35	CTCF	chr11:67029160-67029310	NHEK	skin:	n/a	n/a
36	CTCF	chr11:67029140-67029290	HFF	foreskin:	n/a	n/a
37	CTCF	chr11:67029099-67029373	K562	blood:	n/a	n/a
38	POLR2A	chr11:67028684-67029235	SK-N-MC	brain:	n/a	n/a
39	CTCF	chr11:67029140-67029290	HPAF	blood vessel:	n/a	n/a
40	CTCF	chr11:67029120-67029270	GM12866	blood:	n/a	n/a
41	ZBTB7A	chr11:67029165-67029366	HepG2	liver:	n/a	n/a
42	CTCF	chr11:67029080-67029230	HRE	kidney:	n/a	n/a
43	CTCF	chr11:67029160-67029310	HPAF	blood vessel:	n/a	n/a
44	CTCF	chr11:67029160-67029310	HBMEC	blood vessel:	n/a	n/a
45	CTCF	chr11:67029200-67029350	AoAF	blood vessel:	n/a	n/a
46	CTCF	chr11:67029200-67029350	HMF	breast:	n/a	n/a
47	CTCF	chr11:67029176-67029295	Gliobla	brain:	n/a	n/a
48	CTCF	chr11:67029140-67029290	GM12869	blood:	n/a	n/a
49	CTCF	chr11:67029175-67029287	MCF-7	breast:	n/a	n/a
50	CTCF	chr11:67029140-67029290	HEEpiC	esophagus:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:67028634..67031744-chr11:67145224..67149338,6	MCF-7	breast:
2	chr11:67028872..67031497-chr11:67138430..67141652,4	K562	blood:
3	chr11:67029009..67031852-chr11:67147275..67148992,2	MCF-7	breast:
4	chr11:67028558..67031077-chr11:67114717..67116735,2	MCF-7	breast:
5	chr11:66822725..66824959-chr11:67028565..67030327,3	MCF-7	breast:
6	chr11:67028370..67030971-chr11:67119641..67121434,2	MCF-7	breast:
7	chr11:66789688..66792643-chr11:67028882..67030976,2	MCF-7	breast:
8	chr11:67028622..67031232-chr21:39798788..39801234,2	MCF-7	breast:
9	chr11:67029054..67030834-chr11:67119446..67121966,2	MCF-7	breast:

No data

Variant related genes	Relation type
ADRBK1	TF binding region
ENSG00000175505	Chromatin interaction
ENSG00000175482	Chromatin interaction
ENSG00000173227	Chromatin interaction
ENSG00000173156	Chromatin interaction
ENSG00000256514	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs11227699	0.84[MEX][hapmap]
rs12279818	0.87[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12285097	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12417116	0.90[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs12417770	0.91[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12417887	0.86[ASN][1000 genomes]
rs12418407	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes]
rs12419315	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12420479	0.86[ASN][1000 genomes]
rs12420556	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12420594	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs12420763	1.00[JPT][hapmap];0.82[AMR][1000 genomes]
rs12421018	0.90[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12421536	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.94[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1573536	0.86[ASW][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1574103	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17148080	1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes]
rs17148183	0.84[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes]
rs2066494	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.82[AFR][1000 genomes]
rs3730140	1.00[CHB][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4084238	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4382915	0.87[AMR][1000 genomes]
rs4567468	0.87[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4930198	0.86[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes]
rs4930414	0.90[AMR][1000 genomes]
rs4930415	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4930416	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61525626	0.90[AMR][1000 genomes]
rs61731786	0.91[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs61758493	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61759803	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61759806	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61763963	1.00[EUR][1000 genomes]
rs868167	0.83[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap]
rs885833	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs887315	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs887316	0.86[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap]
rs887318	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 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	nsv897798	chr11:67024534-67065858	Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
6	nsv897799	chr11:67024534-67072623	Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers 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	41 gene(s)	inside rSNPs	diseases
7	nsv897800	chr11:67024534-67086298	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
8	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67022400-67030000	Weak transcription	Fetal Brain Male	brain
2	chr11:67023800-67030200	Weak transcription	Fetal Kidney	kidney
3	chr11:67024400-67034000	Weak transcription	Small Intestine	intestine
4	chr11:67025000-67029600	Weak transcription	Dnd41	blood
5	chr11:67025000-67029800	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr11:67025000-67029800	Weak transcription	Hela-S3	cervix
7	chr11:67026400-67030400	Weak transcription	Gastric	stomach
8	chr11:67028000-67031000	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr11:67028200-67029600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
10	chr11:67028600-67029400	Active TSS	H9 Cell Line	embryonic stem cell
11	chr11:67028600-67029400	Active TSS	iPS-15b Cell Line	embryonic stem cell
12	chr11:67028600-67029400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
13	chr11:67028600-67029400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr11:67028600-67029400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr11:67028600-67029400	Active TSS	Stomach Smooth Muscle	stomach
16	chr11:67028600-67029400	Active TSS	A549	lung
17	chr11:67028600-67029400	Active TSS	NHLF	lung
18	chr11:67028600-67029600	Active TSS	HUES6 Cell Line	embryonic stem cell
19	chr11:67028600-67029600	Active TSS	HUES64 Cell Line	embryonic stem cell
20	chr11:67028600-67029600	Enhancers	HUVEC	blood vessel
21	chr11:67028600-67029800	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr11:67028600-67030000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr11:67028600-67030000	Enhancers	Adipose Nuclei	Adipose
24	chr11:67028600-67030000	Enhancers	Rectal Mucosa Donor 29	rectum
25	chr11:67028600-67031400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr11:67028600-67032200	Enhancers	Primary hematopoietic stem cells	blood
27	chr11:67028600-67033600	Enhancers	HMEC	breast
28	chr11:67028800-67029400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr11:67028800-67029400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr11:67028800-67029400	Active TSS	iPS-18 Cell Line	embryonic stem cell
31	chr11:67028800-67029400	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr11:67028800-67029400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr11:67028800-67029400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
34	chr11:67028800-67029400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr11:67028800-67029400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr11:67028800-67029400	Flanking Active TSS	Brain Hippocampus Middle	brain
37	chr11:67028800-67029400	Active TSS	Duodenum Smooth Muscle	Duodenum
38	chr11:67028800-67029400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
39	chr11:67028800-67029400	Flanking Active TSS	Fetal Brain Female	brain
40	chr11:67028800-67029400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
41	chr11:67028800-67029400	Flanking Active TSS	Fetal Muscle Leg	muscle
42	chr11:67028800-67029400	Active TSS	Right Atrium	heart
43	chr11:67028800-67029400	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
44	chr11:67028800-67029400	Active TSS	Osteobl	bone
45	chr11:67028800-67029600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr11:67028800-67029600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
47	chr11:67028800-67029600	Active TSS	Rectal Smooth Muscle	rectum
48	chr11:67028800-67029800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
49	chr11:67028800-67029800	Enhancers	Primary hematopoietic stem cells short term culture	blood
50	chr11:67028800-67030000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell

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