Variant report

Variant	rs10553377
Chromosome Location	chr11:73072966-73072967
allele	-/CACA
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	MAX	chr11:73072874-73073499	H1-hESC	embryonic stem cell:	n/a	chr11:73073375-73073385
2	CTCF	chr11:73072856-73073264	H1-hESC	embryonic stem cell:	n/a	n/a
3	RAD21	chr11:73072867-73073279	H1-hESC	embryonic stem cell:	n/a	n/a
4	TBP	chr11:73072962-73073621	H1-hESC	embryonic stem cell:	n/a	n/a
5	RAD21	chr11:73072862-73073336	H1-hESC	embryonic stem cell:	n/a	chr11:73073312-73073325
6	CTCF	chr11:73072960-73073110	HepG2	liver:	n/a	n/a
7	CTCF	chr11:73072940-73073090	HEK293	kidney:	n/a	n/a
8	MYC	chr11:73072938-73073022	MCF-7	breast:	n/a	n/a
9	CTCF	chr11:73072960-73073110	HRE	kidney:	n/a	n/a
10	SP4	chr11:73072885-73073553	H1-hESC	embryonic stem cell:	n/a	chr11:73073405-73073421 chr11:73073374-73073385 chr11:73073403-73073419 chr11:73073392-73073408 chr11:73073372-73073388 chr11:73073394-73073405
11	SIN3A	chr11:73072923-73073799	H1-hESC	embryonic stem cell:	n/a	n/a
12	RAD21	chr11:73072903-73073255	H1-hESC	embryonic stem cell:	n/a	n/a
13	BACH1	chr11:73072923-73073322	H1-hESC	embryonic stem cell:	n/a	n/a
14	CTCF	chr11:73072952-73073131	HepG2	liver:	n/a	n/a
15	CREB1	chr11:73072931-73073634	H1-hESC	embryonic stem cell:	n/a	n/a
16	ZNF143	chr11:73072939-73073285	H1-hESC	embryonic stem cell:	n/a	n/a
17	SP4	chr11:73072927-73073575	H1-hESC	embryonic stem cell:	n/a	chr11:73073405-73073421 chr11:73073374-73073385 chr11:73073403-73073419 chr11:73073392-73073408 chr11:73073372-73073388 chr11:73073394-73073405
18	TEAD4	chr11:73072912-73073354	H1-hESC	embryonic stem cell:	n/a	n/a
19	CTCF	chr11:73072918-73073222	H1-hESC	embryonic stem cell:	n/a	n/a
20	CTCF	chr11:73072950-73073204	K562	blood:	n/a	n/a
21	CTCF	chr11:73072960-73073110	HCPEpiC	choroid plexus:	n/a	n/a
22	TAF1	chr11:73072920-73073651	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:73071635..73074523-chr11:73081652..73084521,2	MCF-7	breast:
2	chr11:73072856..73074800-chr11:73103670..73106366,2	K562	blood:
3	chr11:73064557..73071332-chr11:73071606..73076683,10	K562	blood:
4	chr11:73071618..73073385-chr11:73077416..73079992,2	K562	blood:
5	chr11:73067211..73073171-chr11:73086403..73091347,7	K562	blood:
6	chr11:73065144..73069347-chr11:73069926..73075014,6	MCF-7	breast:
7	chr11:73018905..73020845-chr11:73070622..73074766,3	MCF-7	breast:
8	chr11:73051769..73054322-chr11:73072717..73075301,2	MCF-7	breast:
9	chr11:73072848..73076565-chr11:73085578..73089791,6	MCF-7	breast:
10	chr11:73002085..73004189-chr11:73070534..73073198,2	MCF-7	breast:

Variant related genes	Relation type
ARHGEF17	TF binding region
ENSG00000054967	Chromatin interaction
ENSG00000266866	Chromatin interaction
ENSG00000257038	Chromatin interaction
ENSG00000171631	Chromatin interaction
ENSG00000110237	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832208	chr11:72876184-73091003	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
2	esv1821041	chr11:72937162-73113080	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
3	nsv825993	chr11:73029209-73091929	Active TSS Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS 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	29 gene(s)	inside rSNPs	diseases
4	nsv897911	chr11:73044351-73108276	Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
5	esv3376212	chr11:73071829-73074677	Strong transcription Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	esv2546067	chr11:73072966-73072969	Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
7	nsv29843	chr11:73072966-73072969	Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
8	esv2343268	chr11:73072966-73072970	Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
9	nsv38433	chr11:73072967-73072970	Flanking Active TSS Strong transcription Weak transcription Active TSS Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	n/a	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73046600-73075400	Weak transcription	A549	lung
2	chr11:73054600-73081800	Strong transcription	Fetal Intestine Small	intestine
3	chr11:73056000-73077200	Weak transcription	Right Atrium	heart
4	chr11:73059000-73074000	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr11:73059200-73087400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr11:73059800-73083000	Weak transcription	Fetal Heart	heart
7	chr11:73060200-73077000	Weak transcription	GM12878-XiMat	blood
8	chr11:73062200-73075000	Weak transcription	Primary B cells from cord blood	blood
9	chr11:73062200-73077600	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr11:73062600-73073000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr11:73062600-73077000	Weak transcription	Fetal Brain Male	brain
12	chr11:73062600-73078400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr11:73062600-73082200	Strong transcription	Fetal Stomach	stomach
14	chr11:73062600-73087400	Weak transcription	Liver	Liver
15	chr11:73063400-73080600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr11:73063400-73081200	Strong transcription	Fetal Intestine Large	intestine
17	chr11:73063600-73077200	Strong transcription	Ovary	ovary
18	chr11:73063600-73081000	Strong transcription	Cortex derived primary cultured neurospheres	brain
19	chr11:73063600-73081400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr11:73063800-73079000	Strong transcription	Fetal Lung	lung
21	chr11:73063800-73081000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr11:73063800-73081000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr11:73063800-73081400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr11:73064000-73076800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr11:73064200-73077000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
26	chr11:73064600-73073000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr11:73065800-73077600	Strong transcription	Rectal Smooth Muscle	rectum
28	chr11:73066400-73073600	Genic enhancers	Placenta	Placenta
29	chr11:73066400-73077200	Strong transcription	Right Ventricle	heart
30	chr11:73066400-73077600	Strong transcription	Gastric	stomach
31	chr11:73066400-73079800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr11:73066600-73073400	Strong transcription	Pancreas	Pancrea
33	chr11:73066600-73078000	Strong transcription	Lung	lung
34	chr11:73066600-73081400	Strong transcription	Placenta Amnion	Placenta Amnion
35	chr11:73066800-73077200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr11:73066800-73079200	Strong transcription	Colon Smooth Muscle	Colon
37	chr11:73067200-73073800	Weak transcription	Colonic Mucosa	Colon
38	chr11:73067600-73077400	Weak transcription	Thymus	Thymus
39	chr11:73068000-73073600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr11:73068600-73078200	Weak transcription	Small Intestine	intestine
41	chr11:73068800-73081000	Strong transcription	Fetal Brain Female	brain
42	chr11:73069800-73076600	Strong transcription	Spleen	Spleen
43	chr11:73069800-73081000	Strong transcription	Brain Germinal Matrix	brain
44	chr11:73070400-73075200	Strong transcription	Primary neutrophils fromperipheralblood	blood
45	chr11:73070400-73079400	Strong transcription	Duodenum Smooth Muscle	Duodenum
46	chr11:73070600-73077600	Strong transcription	Brain Cingulate Gyrus	brain
47	chr11:73070600-73079400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr11:73070800-73077000	Strong transcription	Sigmoid Colon	Sigmoid Colon
49	chr11:73070800-73077600	Strong transcription	NH-A	brain
50	chr11:73070800-73080400	Strong transcription	Aorta	Aorta

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