Variant report

Variant	rs544135699
Chromosome Location	chr11:63537381-63537382
allele	C/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	POLR2A	chr11:63537340-63537527	H1-hESC	embryonic stem cell:	n/a	n/a
2	SIN3A	chr11:63536294-63537618	H1-hESC	embryonic stem cell:	n/a	chr11:63536360-63536371
3	CTCF	chr11:63537240-63537390	GM12873	blood:	n/a	chr11:63537262-63537275
4	MAZ	chr11:63533898-63537592	IMR90	lung:	n/a	chr11:63535779-63535789 chr11:63535837-63535847
5	MAX	chr11:63537237-63537661	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr11:63537189-63537397	H1-hESC	embryonic stem cell:	n/a	n/a
7	REST	chr11:63534517-63537808	H1-neurons	neurons:	n/a	chr11:63535702-63535712 chr11:63535771-63535781 chr11:63535790-63535803 chr11:63536356-63536366 chr11:63535815-63535828 chr11:63535778-63535791 chr11:63535775-63535788 chr11:63534588-63534606
8	POLR2A	chr11:63537287-63537514	HepG2	liver:	n/a	n/a
9	GABPA	chr11:63536840-63537443	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr11:63534739-63537668	H1-neurons	neurons:	n/a	n/a
11	ZBTB7A	chr11:63536170-63537467	K562	blood:	n/a	chr11:63536601-63536610
12	MAX	chr11:63537184-63537699	H1-hESC	embryonic stem cell:	n/a	n/a
13	MXI1	chr11:63536688-63537604	HepG2	liver:	n/a	n/a
14	MAX	chr11:63535546-63537659	HepG2	liver:	n/a	chr11:63535779-63535789 chr11:63535837-63535847
15	CTCF	chr11:63535117-63537563	SK-N-SH	brain:	n/a	chr11:63536572-63536585 chr11:63535824-63535837 chr11:63536692-63536705 chr11:63535834-63535847 chr11:63537262-63537275 chr11:63535826-63535836 chr11:63535821-63535839 chr11:63535823-63535844 chr11:63535824-63535837 chr11:63535822-63535838 chr11:63536570-63536588 chr11:63535824-63535833
16	MAX	chr11:63537290-63537599	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr11:63535608-63537728	H1-neurons	neurons:	n/a	n/a
18	CTCF	chr11:63537340-63537490	Caco-2	colon:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:63537378-63537428	GM19239	blood:	n/a
2	chr11:63537378-63537428	HAEpiC	amniotic membrane:	n/a
3	chr11:63537378-63537428	GM12878	blood:	n/a
4	chr11:63537378-63537428	PrEC	prostate:	n/a
5	chr11:63537378-63537428	HUVEC	blood vessel:	n/a
6	chr11:63537378-63537428	SK-N-SH_RA	brain:	n/a
7	chr11:63537378-63537428	NHBE	bronchial:	n/a
8	chr11:63537378-63537428	HCF	heart:	n/a
9	chr11:63537378-63537428	NHDF-neo	bronchial:	n/a
10	chr11:63537378-63537428	HCM	heart:	n/a
11	chr11:63537378-63537428	CMK	blood:	n/a
12	chr11:63537378-63537428	Jurkat	blood:	n/a
13	chr11:63537378-63537428	ProgFib	skin:	n/a
14	chr11:63537378-63537428	HCPEpiC	choroid plexus:	n/a
15	chr11:63537378-63537428	HIPEpiC	eye:	n/a
16	chr11:63537378-63537428	LNCaP	prostate:	n/a
17	chr11:63537378-63537428	HepG2	liver:	n/a
18	chr11:63537378-63537428	BJ	skin:	n/a
19	chr11:63537378-63537428	HEEpiC	esophagus:	n/a
20	chr11:63537378-63537428	HRCEpiC	kidney:	n/a
21	chr11:63537378-63537428	AG10803	skin:	n/a
22	chr11:63537378-63537428	A549	lung:	n/a
23	chr11:63537378-63537428	SAEC	small airway:	n/a
24	chr11:63537378-63537428	BE2_C	brain:	n/a
25	chr11:63537378-63537428	AG09319	gingival:	n/a
26	chr11:63537378-63537428	HL-60	blood:	n/a
27	chr11:63537378-63537428	MCF-7	breast:	n/a
28	chr11:63537378-63537428	AG04450	lung:	fetal
29	chr11:63537378-63537428	Caco-2	colon:	n/a
30	chr11:63537378-63537428	HPAEpiC	pulmonary alveolar:	n/a
31	chr11:63537378-63537428	SK-N-MC	brain:	n/a
32	chr11:63537378-63537428	HCT-116	colon:	n/a
33	chr11:63537378-63537428	Hela-S3	cervix:	n/a
34	chr11:63537378-63537428	SK-N-SH	brain:	n/a
35	chr11:63537378-63537428	MCF10A-Er-Src	breast:	n/a
36	chr11:63537378-63537428	SKMC	muscle:	n/a
37	chr11:63537378-63537428	GM06990	blood:	n/a
38	chr11:63537378-63537428	H1-hESC	embryonic stem cell:	embryo
39	chr11:63537378-63537428	HEK293	kidney:	embryo
40	chr11:63537378-63537428	GM12892	blood:	n/a
41	chr11:63537378-63537428	AG04449	skin:	fetal
42	chr11:63537378-63537428	U87	brain:	n/a
43	chr11:63537378-63537428	NB4	blood:	n/a
44	chr11:63537378-63537428	ECC-1	luminal epithelium:	n/a
45	chr11:63537378-63537428	IMR90	lung:	fetal
46	chr11:63537378-63537428	AoSMC	blood vessel:	n/a
47	chr11:63537378-63537428	HRE	kidney:	n/a
48	chr11:63537378-63537428	PANC-1	pancreas:	n/a
49	chr11:63537378-63537428	AG09309	skin:	n/a
50	chr11:63537378-63537428	Hepatocyte	liver:	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:63536780..63538591-chr11:63740958..63743379,2	K562	blood:
2	chr11:63529280..63533473-chr11:63536389..63539836,6	MCF-7	breast:
3	chr11:63536047..63538392-chr11:63603133..63607498,3	MCF-7	breast:
4	chr11:63532131..63538052-chr11:63579345..63585604,10	K562	blood:
5	chr11:63532069..63539323-chr11:63579489..63583130,14	MCF-7	breast:
6	chr11:63533773..63537846-chr11:63579275..63583196,6	MCF-7	breast:
7	chr11:63535711..63538179-chr11:63649382..63651942,2	K562	blood:
8	chr11:63536537..63538641-chr11:63540593..63542800,2	MCF-7	breast:
9	chr11:63536948..63539321-chr11:63636062..63638062,2	K562	blood:

Variant related genes	Relation type
C11orf95	TF binding region
ENSG00000255651	TF binding region
C11orf95	CpG island
ENSG00000255651	CpG island
ENSG00000168005	Chromatin interaction
ENSG00000188070	Chromatin interaction
ENSG00000202089	Chromatin interaction
ENSG00000256100	Chromatin interaction
ENSG00000072518	Chromatin interaction
ENSG00000176340	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051171	chr11:62987064-63835715	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
2	nsv832183	chr11:63416678-63564565	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv468589	chr11:63515752-63713239	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv555180	chr11:63515752-63713239	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	esv1821734	chr11:63533300-63537509	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	esv3322085	chr11:63534376-63538774	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	esv3431841	chr11:63535026-63538474	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	esv3426231	chr11:63535201-63537749	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	esv1834145	chr11:63535620-63537509	Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	esv1840819	chr11:63535620-63537509	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63534200-63537400	Active TSS	Fetal Brain Female	brain
2	chr11:63534400-63537400	Active TSS	HSMMtube	muscle
3	chr11:63534400-63537600	Active TSS	Brain Angular Gyrus	brain
4	chr11:63534600-63537600	Active TSS	NHDF-Ad	bronchial
5	chr11:63534800-63537400	Active TSS	Primary T cells from cord blood	blood
6	chr11:63534800-63537400	Active TSS	Brain Substantia Nigra	brain
7	chr11:63534800-63537400	Active TSS	Left Ventricle	heart
8	chr11:63534800-63537400	Active TSS	Lung	lung
9	chr11:63534800-63537600	Active TSS	Psoas Muscle	Psoas
10	chr11:63534800-63537600	Active TSS	Rectal Mucosa Donor 31	rectum
11	chr11:63534800-63537800	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr11:63534800-63538000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr11:63535000-63537400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr11:63535000-63537400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr11:63535000-63537400	Active TSS	H9 Cell Line	embryonic stem cell
16	chr11:63535000-63537400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr11:63535000-63537400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr11:63535000-63537400	Active TSS	HUES48 Cell Line	embryonic stem cell
19	chr11:63535000-63537400	Active TSS	iPS-15b Cell Line	embryonic stem cell
20	chr11:63535000-63537400	Active TSS	Breast Myoepithelial Primary Cells	Breast
21	chr11:63535000-63537400	Active TSS	Brain Anterior Caudate	brain
22	chr11:63535000-63537400	Active TSS	Rectal Smooth Muscle	rectum
23	chr11:63535000-63537400	Active TSS	Hela-S3	cervix
24	chr11:63535000-63537400	Active TSS	K562	blood
25	chr11:63535000-63537400	Active TSS	Osteobl	bone
26	chr11:63535000-63537600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr11:63535000-63537600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr11:63535000-63537600	Active TSS	Muscle Satellite Cultured Cells	--
29	chr11:63535000-63537600	Active TSS	Aorta	Aorta
30	chr11:63535000-63537600	Active TSS	Gastric	stomach
31	chr11:63535000-63537600	Active TSS	Pancreas	Pancrea
32	chr11:63535000-63537600	Active TSS	Right Atrium	heart
33	chr11:63535000-63537600	Active TSS	Right Ventricle	heart
34	chr11:63535200-63537600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
35	chr11:63535200-63537600	Active TSS	Brain Cingulate Gyrus	brain
36	chr11:63535400-63537400	Active TSS	HSMM	muscle
37	chr11:63535600-63537400	Weak transcription	Fetal Heart	heart
38	chr11:63535600-63537400	Active TSS	Fetal Intestine Small	intestine
39	chr11:63535600-63537400	Active TSS	Placenta	Placenta
40	chr11:63535600-63537400	Active TSS	HepG2	liver
41	chr11:63535800-63537400	Active TSS	Brain Germinal Matrix	brain
42	chr11:63536400-63537400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr11:63536400-63537400	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
44	chr11:63536400-63537600	Flanking Active TSS	Primary hematopoietic stem cells	blood
45	chr11:63536600-63537400	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
46	chr11:63536600-63537400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr11:63536600-63537600	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
48	chr11:63536600-63537800	Flanking Bivalent TSS/Enh	Dnd41	blood
49	chr11:63536800-63537400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr11:63536800-63537400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links