Variant report

Variant	rs549574221
Chromosome Location	chr13:95362984-95362985
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr13:95362140-95363064	H1-neurons	neurons:	n/a	n/a
2	CHD1	chr13:95362173-95363002	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr13:95362784-95364277	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr13:95362428-95363398	H1-neurons	neurons:	n/a	n/a
5	TBP	chr13:95362736-95363048	H1-hESC	embryonic stem cell:	n/a	n/a
6	SIN3A	chr13:95362631-95363644	H1-hESC	embryonic stem cell:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr13:95362971-95363021	AG09309	skin:	n/a
2	chr13:95362971-95363021	H1-hESC	embryonic stem cell:	embryo
3	chr13:95362971-95363021	AG09319	gingival:	n/a
4	chr13:95362971-95363021	NB4	blood:	n/a
5	chr13:95362971-95363021	SAEC	small airway:	n/a
6	chr13:95362971-95363021	HEEpiC	esophagus:	n/a
7	chr13:95362971-95363021	HMEC	breast:	n/a
8	chr13:95362971-95363021	PFSK-1	brain:	n/a
9	chr13:95362971-95363021	ProgFib	skin:	n/a
10	chr13:95362971-95363021	ovcar-3	ovarian:	n/a
11	chr13:95362971-95363021	HepG2	liver:	n/a
12	chr13:95362971-95363021	RPTEC	kidney:	n/a
13	chr13:95362971-95363021	AG04449	skin:	fetal
14	chr13:95362971-95363021	AoSMC	blood vessel:	n/a
15	chr13:95362971-95363021	Caco-2	colon:	n/a
16	chr13:95362971-95363021	Jurkat	blood:	n/a
17	chr13:95362971-95363021	NHBE	bronchial:	n/a
18	chr13:95362971-95363021	NHDF-neo	bronchial:	n/a
19	chr13:95362971-95363021	GM12891	blood:	n/a
20	chr13:95362971-95363021	HIPEpiC	eye:	n/a
21	chr13:95362971-95363021	NH-A	brain:	n/a
22	chr13:95362971-95363021	T-47D	breast:	n/a
23	chr13:95362971-95363021	IMR90	lung:	fetal
24	chr13:95362971-95363021	HCM	heart:	n/a
25	chr13:95362971-95363021	A549	lung:	n/a
26	chr13:95362971-95363021	HCT-116	colon:	n/a
27	chr13:95362971-95363021	MCF-7	breast:	n/a
28	chr13:95362971-95363021	Hela-S3	cervix:	n/a
29	chr13:95362971-95363021	AG10803	skin:	n/a
30	chr13:95362971-95363021	HCF	heart:	n/a
31	chr13:95362971-95363021	CMK	blood:	n/a
32	chr13:95362971-95363021	HAEpiC	amniotic membrane:	n/a
33	chr13:95362971-95363021	MCF10A-Er-Src	breast:	n/a
34	chr13:95362971-95363021	BE2_C	brain:	n/a
35	chr13:95362971-95363021	HUVEC	blood vessel:	n/a
36	chr13:95362971-95363021	AG04450	lung:	fetal
37	chr13:95362971-95363021	Hepatocyte	liver:	n/a
38	chr13:95362971-95363021	K562	blood:	n/a
39	chr13:95362971-95363021	HEK293	kidney:	embryo
40	chr13:95362971-95363021	GM06990	blood:	n/a
41	chr13:95362971-95363021	HCPEpiC	choroid plexus:	n/a
42	chr13:95362971-95363021	HRCEpiC	kidney:	n/a
43	chr13:95362971-95363021	U87	brain:	n/a
44	chr13:95362971-95363021	BJ	skin:	n/a
45	chr13:95362971-95363021	GM12878	blood:	n/a
46	chr13:95362971-95363021	PANC-1	pancreas:	n/a
47	chr13:95362971-95363021	GM19239	blood:	n/a
48	chr13:95362971-95363021	HNPCEpiC	eye:	n/a
49	chr13:95362971-95363021	HRPEpiC	eye:	n/a
50	chr13:95362971-95363021	NT2-D1	testis:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr13:95357906..95359959-chr13:95361552..95364059,2	MCF-7	breast:
2	chr13:95355528..95357274-chr13:95361498..95363560,2	K562	blood:
3	chr13:95359884..95364398-chr13:95364758..95367708,4	MCF-7	breast:

No data

Variant related genes	Relation type
SOX21-AS1	TF binding region
SOX21-AS1	CpG island
ENSG00000227640	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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	esv34004	chr13:94906537-95392644	Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv832686	chr13:95206742-95400992	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	esv1813549	chr13:95333331-95377127	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv1824604	chr13:95357807-95365771	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv826750	chr13:95358502-95368070	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	esv3407787	chr13:95362576-95365124	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv1054343	chr13:95362727-95395486	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	esv3446235	chr13:95362851-95366749	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:95358800-95366200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr13:95359000-95368000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr13:95359200-95366600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr13:95359600-95366000	Active TSS	Cortex derived primary cultured neurospheres	brain
5	chr13:95359600-95366400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr13:95360000-95364000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
7	chr13:95360400-95363200	Active TSS	Brain Germinal Matrix	brain
8	chr13:95360800-95363000	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
9	chr13:95360800-95363600	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr13:95361000-95363600	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr13:95361400-95363200	Active TSS	Fetal Brain Female	brain
12	chr13:95361800-95363600	Bivalent/Poised TSS	Brain Anterior Caudate	brain
13	chr13:95361800-95366000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
14	chr13:95362200-95366000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
15	chr13:95362400-95363000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
16	chr13:95362400-95363000	Bivalent/Poised TSS	Fetal Brain Male	brain
17	chr13:95362400-95363200	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
18	chr13:95362400-95363200	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr13:95362400-95366200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
20	chr13:95362400-95366200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
21	chr13:95362400-95366600	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
22	chr13:95362400-95366800	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
23	chr13:95362600-95363000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
24	chr13:95362600-95363000	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr13:95362600-95363000	Flanking Bivalent TSS/Enh	NHEK	skin
26	chr13:95362600-95363200	Bivalent Enhancer	Primary hematopoietic stem cells	blood
27	chr13:95362600-95363200	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
28	chr13:95362600-95363200	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
29	chr13:95362600-95363200	Bivalent/Poised TSS	Fetal Stomach	stomach
30	chr13:95362600-95363400	Bivalent Enhancer	Fetal Heart	heart
31	chr13:95362600-95364000	Bivalent Enhancer	Fetal Muscle Leg	muscle
32	chr13:95362600-95364000	Bivalent/Poised TSS	NH-A	brain
33	chr13:95362600-95364800	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
34	chr13:95362600-95365200	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr13:95362600-95366200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
36	chr13:95362600-95366200	Bivalent/Poised TSS	Brain Angular Gyrus	brain
37	chr13:95362600-95366400	Active TSS	Brain Substantia Nigra	brain
38	chr13:95362800-95363000	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr13:95362800-95363000	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
40	chr13:95362800-95363000	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
41	chr13:95362800-95363000	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
42	chr13:95362800-95363000	Bivalent Enhancer	Fetal Lung	lung
43	chr13:95362800-95363000	Flanking Active TSS	Pancreas	Pancrea
44	chr13:95362800-95363000	Enhancers	Right Atrium	heart
45	chr13:95362800-95363200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr13:95362800-95363200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
47	chr13:95362800-95363200	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
48	chr13:95362800-95363200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr13:95362800-95363200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr13:95362800-95363200	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links