Variant report

Variant	rs550636522
Chromosome Location	chr2:113914219-113914220
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:43)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:43 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TBP	chr2:113913864-113914282	HepG2	liver:	n/a	n/a
2	POLR2A	chr2:113913788-113914377	HepG2	liver:	n/a	n/a
3	POLR2A	chr2:113913787-113914569	HepG2	liver:	n/a	n/a
4	FOXA1	chr2:113913795-113914444	HepG2	liver:	n/a	n/a
5	HDAC2	chr2:113913887-113915314	HepG2	liver:	n/a	n/a
6	MAFK	chr2:113913957-113914321	HepG2	liver:	n/a	n/a
7	STAT3	chr2:113914208-113914479	MCF10A-Er-Src	breast:	n/a	chr2:113914290-113914301 chr2:113914393-113914404
8	NFYB	chr2:113913908-113914270	K562	blood:	n/a	n/a
9	HEY1	chr2:113913691-113915323	HepG2	liver:	n/a	chr2:113915191-113915206
10	MAFF	chr2:113913940-113914342	HepG2	liver:	n/a	n/a
11	TEAD4	chr2:113913734-113914731	HepG2	liver:	n/a	n/a
12	MAX	chr2:113913879-113915739	HepG2	liver:	n/a	n/a
13	FOXA1	chr2:113913913-113914395	HepG2	liver:	n/a	n/a
14	SP1	chr2:113913875-113914234	H1-hESC	embryonic stem cell:	n/a	n/a
15	STAT3	chr2:113914129-113914375	MCF10A-Er-Src	breast:	n/a	chr2:113914290-113914301
16	POLR2A	chr2:113913911-113914262	HCT-116	colon:	n/a	n/a
17	HNF4A	chr2:113913806-113914291	HepG2	liver:	n/a	n/a
18	FOXA1	chr2:113913794-113914460	HepG2	liver:	n/a	n/a
19	NFIC	chr2:113913798-113914396	HepG2	liver:	n/a	n/a
20	FOXA1	chr2:113913783-113914319	HepG2	liver:	n/a	n/a
21	SMC3	chr2:113913944-113914268	HepG2	liver:	n/a	n/a
22	CEBPB	chr2:113913984-113914289	HepG2	liver:	n/a	n/a
23	SP1	chr2:113913751-113914424	HepG2	liver:	n/a	n/a
24	MBD4	chr2:113913910-113914731	HepG2	liver:	n/a	n/a
25	RCOR1	chr2:113913970-113914299	HepG2	liver:	n/a	n/a
26	HNF4A	chr2:113913878-113914276	HepG2	liver:	n/a	n/a
27	NFIC	chr2:113913797-113914411	HepG2	liver:	n/a	n/a
28	HNF4G	chr2:113913826-113914325	HepG2	liver:	n/a	n/a
29	MAFK	chr2:113913931-113914304	HepG2	liver:	n/a	n/a
30	ARID3A	chr2:113913930-113914725	HepG2	liver:	n/a	n/a
31	TCF7L2	chr2:113914112-113914457	HepG2	liver:	n/a	n/a
32	EP300	chr2:113913847-113914424	HepG2	liver:	n/a	n/a
33	POLR2A	chr2:113913839-113914300	HepG2	liver:	n/a	n/a
34	EP300	chr2:113913902-113914363	HepG2	liver:	n/a	n/a
35	MYBL2	chr2:113913715-113914848	HepG2	liver:	n/a	n/a
36	MXI1	chr2:113913979-113914314	HepG2	liver:	n/a	n/a
37	HEY1	chr2:113913847-113914367	HepG2	liver:	n/a	n/a
38	TCF7L2	chr2:113914070-113914396	PANC-1	pancreas:	n/a	n/a
39	BHLHE40	chr2:113914155-113914358	HepG2	liver:	n/a	n/a
40	MYBL2	chr2:113913666-113914965	HepG2	liver:	n/a	n/a
41	POLR2A	chr2:113913855-113914276	HCT-116	colon:	n/a	n/a
42	HDAC2	chr2:113913830-113914459	HepG2	liver:	n/a	n/a
43	FOXA2	chr2:113913951-113914350	HepG2	liver:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:113912322..113918193-chr2:113953978..113958305,10	MCF-7	breast:
2	chr2:113913826..113916797-chr2:113930139..113933348,3	K562	blood:
3	chr2:113913193..113914847-chr2:113997714..113999799,2	K562	blood:
4	chr2:113882796..113885709-chr2:113913605..113916421,2	MCF-7	breast:
5	chr2:113914021..113918016-chr2:113931911..113937619,8	MCF-7	breast:
6	chr2:113913340..113916449-chr2:113931202..113934969,5	MCF-7	breast:
7	chr2:113913769..113918338-chr2:113954843..113958220,11	MCF-7	breast:

No data

Variant related genes	Relation type
PSD4	TF binding region
ENSG00000258395	Chromatin interaction
ENSG00000125637	Chromatin interaction
ENSG00000234174	Chromatin interaction
ENSG00000136689	Chromatin interaction
ENSG00000125618	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997348	chr2:113688093-113986508	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv582711	chr2:113895516-113984503	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	esv3374293	chr2:113913906-113916454	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
4	esv3380010	chr2:113913981-113916129	Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113913400-113914400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr2:113913400-113914600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:113913400-113914600	Enhancers	Pancreas	Pancrea
4	chr2:113913600-113915000	Weak transcription	Gastric	stomach
5	chr2:113913800-113914400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr2:113913800-113914400	Enhancers	Primary T helper naive cells from peripheral blood	blood
7	chr2:113913800-113914400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
8	chr2:113913800-113914400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr2:113913800-113914600	Enhancers	Primary B cells from peripheral blood	blood
10	chr2:113913800-113914800	Flanking Active TSS	HepG2	liver
11	chr2:113914000-113914400	Enhancers	Primary T cells fromperipheralblood	blood
12	chr2:113914000-113914400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr2:113914000-113914400	Enhancers	Fetal Intestine Small	intestine
14	chr2:113914000-113914400	Enhancers	Fetal Thymus	thymus
15	chr2:113914000-113914400	Enhancers	NHEK	skin
16	chr2:113914000-113914600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
17	chr2:113914000-113914600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr2:113914000-113914600	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
19	chr2:113914000-113914600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
20	chr2:113914000-113914600	Enhancers	Fetal Intestine Large	intestine
21	chr2:113914000-113914600	Enhancers	Placenta	Placenta
22	chr2:113914000-113914800	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
23	chr2:113914000-113914800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
24	chr2:113914000-113914800	Flanking Active TSS	K562	blood
25	chr2:113914000-113915200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
26	chr2:113914000-113916400	Active TSS	Pancreatic Islets	Pancreatic Islet
27	chr2:113914200-113914400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
28	chr2:113914200-113914400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
29	chr2:113914200-113914400	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
30	chr2:113914200-113914400	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
31	chr2:113914200-113914400	Flanking Active TSS	Primary T cells from cord blood	blood
32	chr2:113914200-113914400	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr2:113914200-113914400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr2:113914200-113914400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr2:113914200-113914400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
36	chr2:113914200-113914400	Enhancers	Duodenum Mucosa	Duodenum
37	chr2:113914200-113914400	Enhancers	Fetal Kidney	kidney
38	chr2:113914200-113914400	Enhancers	Fetal Lung	lung
39	chr2:113914200-113914400	Enhancers	Fetal Stomach	stomach
40	chr2:113914200-113914400	Enhancers	Rectal Mucosa Donor 29	rectum
41	chr2:113914200-113914400	Enhancers	Rectal Mucosa Donor 31	rectum
42	chr2:113914200-113914400	Enhancers	A549	lung
43	chr2:113914200-113914600	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
44	chr2:113914200-113914600	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
45	chr2:113914200-113914600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr2:113914200-113914600	Enhancers	Primary hematopoietic stem cells short term culture	blood
47	chr2:113914200-113914600	Flanking Active TSS	Liver	Liver
48	chr2:113914200-113914600	Flanking Active TSS	Stomach Mucosa	stomach
49	chr2:113914200-113914600	Enhancers	HMEC	breast
50	chr2:113914200-113914800	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell

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