Variant report

Variant	rs536413467
Chromosome Location	chr2:127412847-127412848
allele	A/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	RCOR1	chr2:127412474-127413615	K562	blood:	n/a	n/a
2	JUND	chr2:127412552-127412937	K562	blood:	n/a	n/a
3	UBTF	chr2:127412743-127412942	K562	blood:	n/a	n/a
4	ZNF143	chr2:127412762-127413103	K562	blood:	n/a	n/a
5	TBL1XR1	chr2:127412546-127413074	K562	blood:	n/a	n/a
6	TBL1XR1	chr2:127412785-127414219	K562	blood:	n/a	n/a
7	EGR1	chr2:127412704-127413010	K562	blood:	n/a	chr2:127412808-127412815
8	TAL1	chr2:127412632-127412928	K562	blood:	n/a	n/a
9	POLR2A	chr2:127412552-127417536	K562	blood:	n/a	n/a
10	MAX	chr2:127412432-127414432	K562	blood:	n/a	n/a
11	RELA	chr2:127412736-127416116	GM12891	blood:	n/a	n/a
12	EP300	chr2:127412607-127413838	K562	blood:	n/a	chr2:127413334-127413350 chr2:127412920-127412930
13	EGR1	chr2:127412724-127413014	K562	blood:	n/a	chr2:127412808-127412815
14	CBX3	chr2:127412716-127413774	K562	blood:	n/a	n/a
15	ZNF384	chr2:127412598-127414279	K562	blood:	n/a	n/a
16	YY1	chr2:127412428-127412962	K562	blood:	n/a	chr2:127412592-127412600
17	MYC	chr2:127412553-127416132	K562	blood:	n/a	chr2:127414864-127414873 chr2:127414671-127414680 chr2:127415837-127415846 chr2:127414843-127414853
18	POLR2A	chr2:127412455-127417302	IMR90	lung:	n/a	n/a
19	TBP	chr2:127412646-127412964	K562	blood:	n/a	n/a
20	TEAD4	chr2:127412425-127413992	K562	blood:	n/a	n/a
21	POLR2A	chr2:127412576-127416145	K562	blood:	n/a	n/a
22	POLR2A	chr2:127412644-127413057	K562	blood:	n/a	n/a
23	IRF1	chr2:127412725-127413858	K562	blood:	n/a	chr2:127413516-127413530 chr2:127413519-127413536 chr2:127413518-127413532 chr2:127413512-127413532 chr2:127413520-127413530
24	MAZ	chr2:127412659-127412892	K562	blood:	n/a	n/a
25	JUN	chr2:127412363-127417264	K562	blood:	n/a	chr2:127417211-127417222
26	POLR2A	chr2:127412576-127420620	PBDE	blood:	n/a	n/a
27	UBTF	chr2:127412613-127416015	K562	blood:	n/a	n/a
28	BHLHE40	chr2:127412638-127416254	K562	blood:	n/a	chr2:127413932-127413948 chr2:127413940-127413956
29	CEBPB	chr2:127412589-127412916	K562	blood:	n/a	n/a
30	MYC	chr2:127412453-127415923	K562	blood:	n/a	chr2:127414864-127414873 chr2:127414671-127414680 chr2:127415837-127415846 chr2:127414843-127414853
31	POLR2A	chr2:127412810-127417778	GM12891	blood:	n/a	n/a
32	ARID3A	chr2:127412458-127413073	K562	blood:	n/a	n/a
33	POLR2A	chr2:127412624-127416164	K562	blood:	n/a	n/a
34	RCOR1	chr2:127412678-127416249	IMR90	lung:	n/a	n/a
35	RCOR1	chr2:127412442-127414343	K562	blood:	n/a	n/a
36	MAX	chr2:127412559-127414357	K562	blood:	n/a	n/a
37	ZMIZ1	chr2:127412712-127412950	K562	blood:	n/a	n/a
38	CUX1	chr2:127412484-127412884	K562	blood:	n/a	n/a
39	GATA1	chr2:127412594-127415107	PBDE	blood:	n/a	n/a

Variant related genes	Relation type
GYPC	TF binding region

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	nsv1002265	chr2:127029745-127733458	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv535919	chr2:127029745-127733458	Strong transcription Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv583011	chr2:127386211-127489031	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv875000	chr2:127402833-127423066	Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv875001	chr2:127402833-127431312	Flanking Active TSS Genic enhancers Enhancers Weak transcription Active TSS Strong transcription 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	4 gene(s)	inside rSNPs	diseases
6	nsv875002	chr2:127412013-127420211	Active TSS Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv875003	chr2:127412495-127419582	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv875004	chr2:127412495-127420211	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh 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

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:127408000-127413000	Weak transcription	Aorta	Aorta
2	chr2:127410800-127414200	Weak transcription	Hela-S3	cervix
3	chr2:127411800-127413000	Enhancers	Primary hematopoietic stem cells	blood
4	chr2:127412000-127413000	Enhancers	Fetal Muscle Trunk	muscle
5	chr2:127412200-127413000	Enhancers	Primary T cells from cord blood	blood
6	chr2:127412200-127413000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr2:127412400-127413000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr2:127412400-127413000	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr2:127412400-127413000	Enhancers	Fetal Heart	heart
10	chr2:127412400-127413000	Enhancers	Fetal Muscle Leg	muscle
11	chr2:127412400-127413000	Enhancers	Fetal Stomach	stomach
12	chr2:127412400-127413000	Enhancers	Left Ventricle	heart
13	chr2:127412400-127413200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr2:127412400-127413200	Enhancers	Fetal Thymus	thymus
15	chr2:127412400-127413600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr2:127412600-127413000	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr2:127412600-127413000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
18	chr2:127412600-127413000	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
19	chr2:127412600-127413000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr2:127412600-127413000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr2:127412600-127413000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
22	chr2:127412600-127413000	Enhancers	Muscle Satellite Cultured Cells	--
23	chr2:127412600-127413000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr2:127412600-127413000	Enhancers	Colonic Mucosa	Colon
25	chr2:127412600-127413000	Enhancers	Rectal Smooth Muscle	rectum
26	chr2:127412600-127413000	Enhancers	GM12878-XiMat	blood
27	chr2:127412600-127413000	Enhancers	Monocytes-CD14+_RO01746	blood
28	chr2:127412600-127413000	Enhancers	NHDF-Ad	bronchial
29	chr2:127412600-127413000	Enhancers	NHLF	lung
30	chr2:127412600-127413200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
31	chr2:127412600-127413200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr2:127412600-127413200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr2:127412600-127413200	Enhancers	H9 Cell Line	embryonic stem cell
34	chr2:127412600-127413200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr2:127412600-127413200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr2:127412600-127413200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr2:127412600-127413200	Enhancers	Primary monocytes fromperipheralblood	blood
38	chr2:127412600-127413200	Enhancers	Primary T cells fromperipheralblood	blood
39	chr2:127412600-127413200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
40	chr2:127412600-127413200	Enhancers	Primary T helper cells fromperipheralblood	blood
41	chr2:127412600-127413200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
42	chr2:127412600-127413200	Enhancers	Primary T killer memory cells from peripheral blood	blood
43	chr2:127412600-127413200	Bivalent Enhancer	Fetal Intestine Large	intestine
44	chr2:127412600-127413200	Enhancers	Placenta	Placenta
45	chr2:127412600-127413200	Enhancers	Psoas Muscle	Psoas
46	chr2:127412600-127413200	Enhancers	Rectal Mucosa Donor 29	rectum
47	chr2:127412600-127413200	Enhancers	Right Atrium	heart
48	chr2:127412600-127413200	Enhancers	Right Ventricle	heart
49	chr2:127412600-127413200	Enhancers	Spleen	Spleen
50	chr2:127412600-127413400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links