Variant report

Variant	rs528786580
Chromosome Location	chr2:191207998-191207999
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	ELF1	chr2:191207890-191209226	GM12878	blood:	n/a	chr2:191208376-191208388 chr2:191208332-191208344 chr2:191208422-191208434 chr2:191208381-191208390
2	MAX	chr2:191207877-191209437	HCT-116	colon:	n/a	chr2:191208347-191208356
3	MAX	chr2:191207884-191209428	A549	lung:	n/a	chr2:191208347-191208356
4	MAX	chr2:191207970-191209346	HepG2	liver:	n/a	chr2:191208347-191208356
5	NR3C1	chr2:191207852-191208180	A549	lung:	n/a	chr2:191208069-191208090 chr2:191208096-191208122
6	PML	chr2:191207914-191209349	GM12878	blood:	n/a	n/a
7	POLR2A	chr2:191207989-191208088	MCF-7	breast:	n/a	n/a
8	POLR2A	chr2:191207977-191208834	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr2:191207854-191209161	HUVEC	blood vessel:	n/a	n/a
10	MAX	chr2:191207992-191209277	NB4	blood:	n/a	chr2:191208347-191208356
11	GATA2	chr2:191207906-191208321	HUVEC	blood vessel:	n/a	chr2:191207968-191207985
12	RCOR1	chr2:191207971-191208771	Hela-S3	cervix:	n/a	n/a
13	MBD4	chr2:191207883-191209386	HepG2	liver:	n/a	n/a
14	MAX	chr2:191207959-191209312	A549	lung:	n/a	chr2:191208347-191208356
15	POLR2A	chr2:191207896-191209102	Hela-S3	cervix:	n/a	n/a
16	HDAC2	chr2:191207946-191209314	HepG2	liver:	n/a	n/a
17	NR3C1	chr2:191207783-191208275	A549	lung:	n/a	chr2:191208069-191208090 chr2:191208096-191208122
18	NR3C1	chr2:191207791-191208274	A549	lung:	n/a	chr2:191208069-191208090 chr2:191208096-191208122
19	MAX	chr2:191207980-191209314	MCF-7	breast:	n/a	chr2:191208347-191208356
20	E2F6	chr2:191207951-191209110	H1-hESC	embryonic stem cell:	n/a	chr2:191208994-191209006 chr2:191208413-191208420 chr2:191208413-191208420 chr2:191208413-191208420 chr2:191208425-191208435 chr2:191208599-191208608 chr2:191208547-191208557
21	RAD21	chr2:191207982-191209672	SK-N-SH	brain:	n/a	n/a
22	MXI1	chr2:191207884-191209582	SK-N-SH	brain:	n/a	n/a
23	POLR2A	chr2:191207894-191209157	HUVEC	blood vessel:	n/a	n/a
24	SMARCB1	chr2:191207941-191209209	Hela-S3	cervix:	n/a	n/a
25	ZNF263	chr2:191207970-191209355	HEK293-T-REx	kidney:	n/a	chr2:191208607-191208616 chr2:191208524-191208545 chr2:191208604-191208613
26	MYBL2	chr2:191207973-191209477	HepG2	liver:	n/a	n/a
27	NFIC	chr2:191207930-191208363	GM12878	blood:	n/a	n/a
28	POLR2A	chr2:191207980-191209241	MCF-7	breast:	n/a	n/a
29	POLR2A	chr2:191207956-191209083	HepG2	liver:	n/a	n/a
30	CREB1	chr2:191207924-191208678	A549	lung:	n/a	n/a
31	SIN3A	chr2:191207976-191209305	H1-hESC	embryonic stem cell:	n/a	chr2:191208382-191208393 chr2:191208562-191208575
32	MTA3	chr2:191207975-191208701	GM12878	blood:	n/a	n/a
33	POLR2A	chr2:191207905-191209252	GM12892	blood:	n/a	n/a
34	RUNX3	chr2:191207903-191208852	GM12878	blood:	n/a	n/a
35	POLR2A	chr2:191207931-191209207	HCT-116	colon:	n/a	n/a
36	POLR2A	chr2:191207975-191208990	HUVEC	blood vessel:	n/a	n/a
37	MTA3	chr2:191207925-191208358	GM12878	blood:	n/a	n/a
38	MAX	chr2:191207837-191209385	HepG2	liver:	n/a	chr2:191208347-191208356
39	RUNX3	chr2:191207938-191208290	GM12878	blood:	n/a	n/a
40	FOXP2	chr2:191207995-191208998	PFSK-1	brain:	n/a	n/a
41	ELF1	chr2:191207933-191208232	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:191207151..191209417-chr2:191272894..191274824,2	MCF-7	breast:
2	chr2:191184511..191186549-chr2:191207772..191209465,2	MCF-7	breast:

Variant related genes	Relation type
INPP1	TF binding region
ENSG00000151690	Chromatin interaction
ENSG00000198130	Chromatin interaction

Extended variants
information (count: 1 )
Associated
traits (count: 0)

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3405665	chr2:191207532-191210080	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:191191600-191208000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:191198600-191208000	Weak transcription	Aorta	Aorta
3	chr2:191198800-191208000	Weak transcription	Ovary	ovary
4	chr2:191199600-191208000	Weak transcription	HMEC	breast
5	chr2:191200600-191208000	Weak transcription	Left Ventricle	heart
6	chr2:191204200-191208000	Enhancers	HepG2	liver
7	chr2:191205800-191216200	Weak transcription	K562	blood
8	chr2:191206800-191208000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr2:191206800-191208200	Enhancers	Small Intestine	intestine
10	chr2:191207200-191208000	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
11	chr2:191207200-191208000	Enhancers	Brain Substantia Nigra	brain
12	chr2:191207200-191208000	Enhancers	Fetal Intestine Small	intestine
13	chr2:191207200-191208000	Enhancers	Fetal Stomach	stomach
14	chr2:191207400-191208000	Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr2:191207400-191208000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:191207400-191208000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
17	chr2:191207400-191208000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
18	chr2:191207400-191208000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
19	chr2:191207400-191208000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
20	chr2:191207400-191208000	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr2:191207400-191208000	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr2:191207400-191208000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
23	chr2:191207400-191208000	Enhancers	Liver	Liver
24	chr2:191207400-191208000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
25	chr2:191207400-191208000	Enhancers	Esophagus	oesophagus
26	chr2:191207400-191208000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr2:191207400-191208000	Enhancers	Fetal Muscle Leg	muscle
28	chr2:191207400-191208000	Enhancers	Placenta	Placenta
29	chr2:191207400-191208000	Enhancers	Fetal Thymus	thymus
30	chr2:191207400-191208000	Enhancers	Pancreas	Pancrea
31	chr2:191207400-191208000	Enhancers	Right Atrium	heart
32	chr2:191207400-191208000	Enhancers	Right Ventricle	heart
33	chr2:191207400-191208000	Enhancers	Stomach Mucosa	stomach
34	chr2:191207400-191208200	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr2:191207400-191208200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr2:191207400-191208200	Enhancers	Spleen	Spleen
37	chr2:191207400-191208800	Active TSS	Primary T cells from cord blood	blood
38	chr2:191207400-191209200	Active TSS	Fetal Kidney	kidney
39	chr2:191207400-191209200	Active TSS	Osteobl	bone
40	chr2:191207400-191210000	Active TSS	Rectal Mucosa Donor 29	rectum
41	chr2:191207600-191208000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
42	chr2:191207600-191208000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr2:191207600-191208000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr2:191207600-191208000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
45	chr2:191207600-191208000	Enhancers	Primary T helper cells fromperipheralblood	blood
46	chr2:191207600-191208000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
47	chr2:191207600-191208000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr2:191207600-191208000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr2:191207600-191208000	Enhancers	Adipose Nuclei	Adipose
50	chr2:191207600-191208000	Enhancers	Brain Germinal Matrix	brain

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