Variant report

Variant	rs111638205
Chromosome Location	chr2:86851288-86851289
allele	C/T
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	TEAD4	chr2:86850844-86851414	HepG2	liver:	n/a	n/a
2	MAX	chr2:86850630-86851413	ECC-1	luminal epithelium:	n/a	n/a
3	PML	chr2:86849582-86851472	GM12878	blood:	n/a	n/a
4	CHD2	chr2:86849581-86851301	Hela-S3	cervix:	n/a	chr2:86850312-86850322 chr2:86851099-86851109 chr2:86850188-86850198
5	MBD4	chr2:86850998-86851447	HepG2	liver:	n/a	n/a
6	MAX	chr2:86850680-86851360	SK-N-SH	brain:	n/a	n/a
7	POLR2A	chr2:86850082-86851293	HepG2	liver:	n/a	n/a
8	STAT3	chr2:86851143-86851346	MCF10A-Er-Src	breast:	n/a	n/a
9	TBP	chr2:86850771-86851307	HepG2	liver:	n/a	n/a
10	POLR2A	chr2:86849605-86851303	GM19193	blood:	n/a	n/a
11	MXI1	chr2:86849945-86851355	GM12878	blood:	n/a	n/a
12	E2F6	chr2:86849947-86851694	K562	blood:	n/a	chr2:86851018-86851028 chr2:86851097-86851108 chr2:86851049-86851061 chr2:86850621-86850631 chr2:86850454-86850463
13	MTA3	chr2:86851042-86851400	GM12878	blood:	n/a	n/a
14	POLR2A	chr2:86849673-86851504	NB4	blood:	n/a	n/a
15	TCF12	chr2:86850563-86851527	A549	lung:	n/a	n/a
16	MAZ	chr2:86850786-86851317	HepG2	liver:	n/a	n/a
17	HEY1	chr2:86849820-86851580	HepG2	liver:	n/a	chr2:86850693-86850708 chr2:86850664-86850679 chr2:86851009-86851024 chr2:86851063-86851078
18	CTCF	chr2:86851125-86851320	K562	blood:	n/a	n/a
19	TAF1	chr2:86850612-86851294	A549	lung:	n/a	n/a
20	REST	chr2:86849669-86851536	H1-neurons	neurons:	n/a	chr2:86850625-86850638 chr2:86850312-86850325
21	EGR1	chr2:86850574-86851381	HCT-116	colon:	n/a	chr2:86850908-86850918 chr2:86850903-86850918 chr2:86850717-86850727 chr2:86850905-86850914 chr2:86850634-86850641 chr2:86850901-86850915 chr2:86851044-86851057
22	POLR2A	chr2:86849571-86851319	Hela-S3	cervix:	n/a	n/a
23	HA-E2F1	chr2:86849785-86851416	MCF-7	breast:	n/a	chr2:86851018-86851028 chr2:86851049-86851061 chr2:86850621-86850631 chr2:86850454-86850463
24	POLR2A	chr2:86850790-86851330	K562	blood:	n/a	n/a
25	MAX	chr2:86850685-86851519	A549	lung:	n/a	n/a
26	POLR2A	chr2:86850779-86851288	HepG2	liver:	n/a	n/a
27	MAX	chr2:86850553-86851368	SK-N-SH	brain:	n/a	n/a
28	CUX1	chr2:86851052-86851580	K562	blood:	n/a	n/a
29	HEY1	chr2:86850277-86851337	K562	blood:	n/a	chr2:86850693-86850708 chr2:86850664-86850679 chr2:86851009-86851024 chr2:86851063-86851078
30	E2F4	chr2:86850352-86851313	MCF10A-Er-Src	breast:	n/a	chr2:86851018-86851028 chr2:86851049-86851061 chr2:86850621-86850631 chr2:86851050-86851061 chr2:86850454-86850463
31	MXI1	chr2:86848131-86851749	SK-N-SH	brain:	n/a	n/a
32	NFIC	chr2:86850737-86851585	HepG2	liver:	n/a	n/a
33	STAT5A	chr2:86850622-86851320	GM12878	blood:	n/a	chr2:86851097-86851109
34	POLR2A	chr2:86849657-86851308	K562	blood:	n/a	n/a
35	POLR2A	chr2:86850131-86851321	HEK293	kidney:	n/a	n/a
36	HEY1	chr2:86850244-86851291	K562	blood:	n/a	chr2:86850693-86850708 chr2:86850664-86850679 chr2:86851009-86851024 chr2:86851063-86851078
37	POLR2A	chr2:86849630-86851353	GM19099	blood:	n/a	n/a
38	POLR2A	chr2:86850620-86851305	H1-neurons	neurons:	n/a	n/a
39	CHD2	chr2:86849670-86851456	GM12878	blood:	n/a	chr2:86850312-86850322 chr2:86851099-86851109 chr2:86850188-86850198
40	POLR2A	chr2:86850107-86851320	HCT-116	colon:	n/a	n/a
41	MYC	chr2:86850563-86851307	MCF-7	breast:	n/a	n/a
42	MYC	chr2:86849726-86851557	NB4	blood:	n/a	n/a
43	POLR2A	chr2:86849374-86851332	H1-hESC	embryonic stem cell:	n/a	n/a
44	POLR2A	chr2:86850728-86851344	K562	blood:	n/a	n/a
45	MAX	chr2:86850669-86851588	HepG2	liver:	n/a	n/a
46	ZBTB7A	chr2:86850680-86851318	ECC-1	luminal epithelium:	n/a	n/a
47	SIN3AK20	chr2:86849225-86851491	MCF-7	breast:	n/a	n/a
48	TCF12	chr2:86850639-86851338	ECC-1	luminal epithelium:	n/a	n/a
49	TFAP2C	chr2:86849801-86851569	Hela-S3	cervix:	n/a	n/a
50	MAZ	chr2:86849747-86851472	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:86849761..86852664-chr2:86946875..86949825,4	MCF-7	breast:
2	chr2:86667874..86671580-chr2:86848738..86852940,5	K562	blood:
3	chr2:86676152..86678942-chr2:86849820..86852421,2	MCF-7	breast:
4	chr2:86849205..86851980-chr4:103788532..103791480,2	MCF-7	breast:
5	chr2:86849813..86851532-chr9:114391747..114393838,2	MCF-7	breast:
6	chr2:86850777..86851624-chr8:145550290..145550908,2	HCT-116	colon:
7	chr10:106097756..106098806-chr2:86850676..86851290,3	Hela-S3	cervix:
8	chr2:86850136..86852379-chr2:86973884..86976847,2	K562	blood:
9	chr2:86848500..86851973-chr2:86945425..86949651,4	MCF-7	breast:
10	chr2:86839004..86842325-chr2:86847581..86852030,6	MCF-7	breast:
11	chr2:86669498..86671776-chr2:86849448..86851643,2	MCF-7	breast:
12	chr2:86787885..86791617-chr2:86846945..86852237,10	MCF-7	breast:

Variant related genes	Relation type
RNF103	TF binding region
RNF103-CHMP3	TF binding region
ENSG00000115548	Chromatin interaction
ENSG00000153561	Chromatin interaction
ENSG00000249884	Chromatin interaction
ENSG00000148841	Chromatin interaction
ENSG00000228363	Chromatin interaction
ENSG00000145354	Chromatin interaction
ENSG00000115561	Chromatin interaction
ENSG00000204173	Chromatin interaction
ENSG00000244115	Chromatin interaction
ENSG00000239305	Chromatin interaction
ENSG00000059769	Chromatin interaction
ENSG00000109332	Chromatin interaction
ENSG00000185000	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3412938	chr2:86370969-86867936	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
2	nsv532724	chr2:86622295-87086407	Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv1011590	chr2:86824181-86906114	Active TSS Strong transcription Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	esv3498261	chr2:86849516-86851839	Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases
5	esv3498262	chr2:86849516-86851839	Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases
6	esv3404473	chr2:86849666-86852214	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases
7	nsv436305	chr2:86849862-86854021	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	22 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	chr2:86847200-86851400	Active TSS	Right Atrium	heart
2	chr2:86847400-86851600	Active TSS	Right Ventricle	heart
3	chr2:86847600-86851400	Active TSS	Stomach Smooth Muscle	stomach
4	chr2:86847800-86851400	Active TSS	Brain Angular Gyrus	brain
5	chr2:86848000-86851400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr2:86848000-86851400	Active TSS	Brain Anterior Caudate	brain
7	chr2:86848000-86851400	Active TSS	Brain Cingulate Gyrus	brain
8	chr2:86848000-86851400	Active TSS	Colon Smooth Muscle	Colon
9	chr2:86848000-86851400	Active TSS	Fetal Brain Female	brain
10	chr2:86848000-86851400	Active TSS	HSMMtube	muscle
11	chr2:86848000-86851600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr2:86848000-86851600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr2:86848200-86851400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr2:86848200-86851400	Active TSS	Colonic Mucosa	Colon
15	chr2:86848200-86851400	Active TSS	Left Ventricle	heart
16	chr2:86848200-86851400	Active TSS	Ovary	ovary
17	chr2:86848200-86851400	Active TSS	Psoas Muscle	Psoas
18	chr2:86848200-86851400	Active TSS	HSMM	muscle
19	chr2:86848200-86851600	Active TSS	Aorta	Aorta
20	chr2:86848200-86851600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
21	chr2:86848200-86851600	Active TSS	NH-A	brain
22	chr2:86848400-86851400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr2:86848400-86851400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr2:86848400-86851400	Active TSS	Skeletal Muscle Female	skeletal muscle
25	chr2:86848400-86851400	Active TSS	NHLF	lung
26	chr2:86848400-86851600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr2:86848400-86851600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr2:86848400-86851600	Active TSS	Fetal Muscle Trunk	muscle
29	chr2:86848400-86851600	Active TSS	Rectal Smooth Muscle	rectum
30	chr2:86848600-86851400	Active TSS	H1 Cell Line	embryonic stem cell
31	chr2:86848600-86851400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr2:86848600-86851400	Active TSS	Brain Substantia Nigra	brain
33	chr2:86848600-86851400	Active TSS	Duodenum Smooth Muscle	Duodenum
34	chr2:86848600-86851400	Active TSS	Pancreatic Islets	Pancreatic Islet
35	chr2:86848600-86851400	Active TSS	Thymus	Thymus
36	chr2:86848800-86851400	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
37	chr2:86848800-86851400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr2:86849200-86851400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr2:86849200-86851400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
40	chr2:86849400-86851400	Active TSS	HUES48 Cell Line	embryonic stem cell
41	chr2:86849400-86851400	Active TSS	Primary T helper naive cells from peripheral blood	blood
42	chr2:86849600-86851400	Active TSS	iPS-20b Cell Line	embryonic stem cell
43	chr2:86849600-86851400	Active TSS	Esophagus	oesophagus
44	chr2:86849600-86851400	Active TSS	Pancreas	Pancrea
45	chr2:86849600-86851600	Active TSS	HUES64 Cell Line	embryonic stem cell
46	chr2:86849800-86851400	Active TSS	iPS-15b Cell Line	embryonic stem cell
47	chr2:86850000-86851400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr2:86850000-86851400	Active TSS	Primary T cells from cord blood	blood
49	chr2:86850200-86851400	Active TSS	Primary hematopoietic stem cells	blood
50	chr2:86850200-86851600	Active TSS	Primary B cells from cord blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links