Variant report

Variant	rs547233570
Chromosome Location	chr2:191208002-191208003
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.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:191208002-191208052	MCF10A-Er-Src	breast:	n/a
2	chr2:191208002-191208052	ECC-1	luminal epithelium:	n/a
3	chr2:191208002-191208052	PrEC	prostate:	n/a
4	chr2:191208002-191208052	HCM	heart:	n/a
5	chr2:191208002-191208052	A549	lung:	n/a
6	chr2:191208002-191208052	PFSK-1	brain:	n/a
7	chr2:191208002-191208052	HCT-116	colon:	n/a
8	chr2:191208002-191208052	HMEC	breast:	n/a
9	chr2:191208002-191208052	HRCEpiC	kidney:	n/a
10	chr2:191208002-191208052	HL-60	blood:	n/a
11	chr2:191208002-191208052	U87	brain:	n/a
12	chr2:191208002-191208052	Hepatocyte	liver:	n/a
13	chr2:191208002-191208052	T-47D	breast:	n/a
14	chr2:191208002-191208052	HRE	kidney:	n/a
15	chr2:191208002-191208052	NT2-D1	testis:	n/a
16	chr2:191208002-191208052	HIPEpiC	eye:	n/a
17	chr2:191208002-191208052	H1-hESC	embryonic stem cell:	embryo
18	chr2:191208002-191208052	ProgFib	skin:	n/a
19	chr2:191208002-191208052	AoSMC	blood vessel:	n/a
20	chr2:191208002-191208052	SAEC	small airway:	n/a
21	chr2:191208002-191208052	PANC-1	pancreas:	n/a
22	chr2:191208002-191208052	GM12891	blood:	n/a
23	chr2:191208002-191208052	LNCaP	prostate:	n/a
24	chr2:191208002-191208052	HEK293	kidney:	embryo
25	chr2:191208002-191208052	CMK	blood:	n/a
26	chr2:191208002-191208052	GM12878	blood:	n/a
27	chr2:191208002-191208052	SK-N-MC	brain:	n/a
28	chr2:191208002-191208052	ovcar-3	ovarian:	n/a
29	chr2:191208002-191208052	IMR90	lung:	fetal
30	chr2:191208002-191208052	SK-N-SH_RA	brain:	n/a
31	chr2:191208002-191208052	GM19239	blood:	n/a
32	chr2:191208002-191208052	HAEpiC	amniotic membrane:	n/a
33	chr2:191208002-191208052	K562	blood:	n/a
34	chr2:191208002-191208052	AG04449	skin:	fetal
35	chr2:191208002-191208052	HEEpiC	esophagus:	n/a
36	chr2:191208002-191208052	Hela-S3	cervix:	n/a
37	chr2:191208002-191208052	GM06990	blood:	n/a
38	chr2:191208002-191208052	NHBE	bronchial:	n/a
39	chr2:191208002-191208052	AG10803	skin:	n/a
40	chr2:191208002-191208052	HCPEpiC	choroid plexus:	n/a
41	chr2:191208002-191208052	AG04450	lung:	fetal
42	chr2:191208002-191208052	GM12892	blood:	n/a
43	chr2:191208002-191208052	RPTEC	kidney:	n/a
44	chr2:191208002-191208052	NB4	blood:	n/a
45	chr2:191208002-191208052	SK-N-SH	brain:	n/a
46	chr2:191208002-191208052	HPAEpiC	pulmonary alveolar:	n/a
47	chr2:191208002-191208052	HUVEC	blood vessel:	n/a
48	chr2:191208002-191208052	AG09319	gingival:	n/a
49	chr2:191208002-191208052	HepG2	liver:	n/a
50	chr2:191208002-191208052	AG09309	skin:	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
INPP1	CpG island
ENSG00000198130	Chromatin interaction
ENSG00000151690	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:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:191205800-191216200	Weak transcription	K562	blood
2	chr2:191206800-191208200	Enhancers	Small Intestine	intestine
3	chr2:191207400-191208200	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr2:191207400-191208200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr2:191207400-191208200	Enhancers	Spleen	Spleen
6	chr2:191207400-191208800	Active TSS	Primary T cells from cord blood	blood
7	chr2:191207400-191209200	Active TSS	Fetal Kidney	kidney
8	chr2:191207400-191209200	Active TSS	Osteobl	bone
9	chr2:191207400-191210000	Active TSS	Rectal Mucosa Donor 29	rectum
10	chr2:191207600-191208200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr2:191207600-191208200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
12	chr2:191207600-191208200	Enhancers	Sigmoid Colon	Sigmoid Colon
13	chr2:191207600-191208400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr2:191207600-191208400	Enhancers	Fetal Heart	heart
15	chr2:191207600-191208600	Flanking Active TSS	Stomach Smooth Muscle	stomach
16	chr2:191207600-191209200	Active TSS	Brain Anterior Caudate	brain
17	chr2:191207800-191208200	Flanking Active TSS	Primary hematopoietic stem cells	blood
18	chr2:191207800-191208200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
19	chr2:191207800-191208200	Flanking Active TSS	Rectal Smooth Muscle	rectum
20	chr2:191207800-191208200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
21	chr2:191207800-191208200	Flanking Active TSS	Hela-S3	cervix
22	chr2:191207800-191208200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
23	chr2:191207800-191208400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
24	chr2:191207800-191209000	Active TSS	Fetal Brain Female	brain
25	chr2:191207800-191209200	Active TSS	Brain Hippocampus Middle	brain
26	chr2:191207800-191209200	Active TSS	Colon Smooth Muscle	Colon
27	chr2:191207800-191209400	Active TSS	H9 Cell Line	embryonic stem cell
28	chr2:191207800-191209400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr2:191207800-191209400	Active TSS	A549	lung
30	chr2:191207800-191209600	Active TSS	HSMM	muscle
31	chr2:191208000-191208200	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
32	chr2:191208000-191208200	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
33	chr2:191208000-191208200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
34	chr2:191208000-191208200	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
35	chr2:191208000-191208200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr2:191208000-191208200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr2:191208000-191208200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
38	chr2:191208000-191208200	Flanking Active TSS	Primary B cells from cord blood	blood
39	chr2:191208000-191208200	Enhancers	Primary B cells from peripheral blood	blood
40	chr2:191208000-191208200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
41	chr2:191208000-191208200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
42	chr2:191208000-191208200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
43	chr2:191208000-191208200	Enhancers	Primary T killer memory cells from peripheral blood	blood
44	chr2:191208000-191208200	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr2:191208000-191208200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr2:191208000-191208200	Flanking Active TSS	Liver	Liver
47	chr2:191208000-191208200	Flanking Active TSS	Brain Angular Gyrus	brain
48	chr2:191208000-191208200	Flanking Active TSS	Brain Cingulate Gyrus	brain
49	chr2:191208000-191208200	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
50	chr2:191208000-191208200	Flanking Active TSS	Duodenum Mucosa	Duodenum

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