Variant report

Variant	rs140840179
Chromosome Location	chr2:191044686-191044687
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	KAP1	chr2:191044490-191045576	HEK293	kidney:	n/a	n/a
2	RCOR1	chr2:191044568-191045567	GM12878	blood:	n/a	n/a
3	MAX	chr2:191044294-191046089	HepG2	liver:	n/a	chr2:191045708-191045718 chr2:191045362-191045372
4	MXI1	chr2:191044566-191045986	GM12878	blood:	n/a	chr2:191045634-191045649
5	CTCF	chr2:191044681-191045578	HCT-116	colon:	n/a	chr2:191045026-191045044 chr2:191045468-191045486 chr2:191045028-191045041
6	EP300	chr2:191044444-191045208	GM12878	blood:	n/a	n/a
7	IKZF1	chr2:191044591-191044729	GM12878	blood:	n/a	n/a
8	BHLHE40	chr2:191044450-191044725	GM12878	blood:	n/a	n/a
9	CHD2	chr2:191044672-191045530	GM12878	blood:	n/a	n/a
10	MAX	chr2:191044452-191046036	ECC-1	luminal epithelium:	n/a	chr2:191045708-191045718 chr2:191045362-191045372
11	RCOR1	chr2:191044545-191045988	HepG2	liver:	n/a	n/a
12	RFX5	chr2:191044608-191045916	HepG2	liver:	n/a	chr2:191045815-191045829
13	MAX	chr2:191044660-191045038	H1-hESC	embryonic stem cell:	n/a	n/a
14	CHD2	chr2:191044559-191045748	HepG2	liver:	n/a	n/a
15	MBD4	chr2:191044427-191045242	HepG2	liver:	n/a	n/a
16	TEAD4	chr2:191044604-191045202	HepG2	liver:	n/a	n/a
17	EBF1	chr2:191044396-191045263	GM12878	blood:	n/a	chr2:191044620-191044631 chr2:191044619-191044632
18	POLR2A	chr2:191044542-191045955	GM19099	blood:	n/a	n/a
19	MAX	chr2:191044492-191045881	HepG2	liver:	n/a	chr2:191045708-191045718 chr2:191045362-191045372
20	BATF	chr2:191044407-191044741	GM12878	blood:	n/a	n/a
21	POLR2A	chr2:191044556-191045847	HepG2	liver:	n/a	n/a
22	TBP	chr2:191044501-191045270	GM12878	blood:	n/a	n/a
23	BRCA1	chr2:191044546-191045090	HepG2	liver:	n/a	n/a
24	USF2	chr2:191044529-191045694	GM12878	blood:	n/a	chr2:191045441-191045457 chr2:191045670-191045686
25	MAX	chr2:191044473-191046063	HepG2	liver:	n/a	chr2:191045708-191045718 chr2:191045362-191045372
26	CUX1	chr2:191044394-191044725	GM12878	blood:	n/a	n/a
27	CREB1	chr2:191044663-191046085	HepG2	liver:	n/a	n/a
28	MBD4	chr2:191044417-191045568	HepG2	liver:	n/a	n/a
29	CTCF	chr2:191044660-191044810	AG04450	lung:	n/a	n/a
30	NFIC	chr2:191044624-191045310	HepG2	liver:	n/a	n/a
31	MTA3	chr2:191044430-191045372	GM12878	blood:	n/a	n/a
32	ZNF143	chr2:191044578-191045797	GM12878	blood:	n/a	chr2:191045610-191045620 chr2:191045353-191045363 chr2:191045110-191045120 chr2:191044688-191044697 chr2:191045275-191045285
33	MAX	chr2:191044489-191045749	GM12878	blood:	n/a	chr2:191045708-191045718 chr2:191045362-191045372
34	MYBL2	chr2:191044511-191045414	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:191040400..191043203-chr2:191043508..191045090,2	K562	blood:
2	chr2:190953744..190954273-chr2:191044612..191045298,2	K562	blood:

Variant related genes	Relation type
C2orf88	TF binding region
ENSG00000187699	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3439178	chr2:190877215-191124499	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	esv3441594	chr2:191044357-191046805	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:191039600-191044800	Weak transcription	Right Atrium	heart
2	chr2:191042000-191044800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr2:191043200-191044800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr2:191043400-191044800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr2:191043400-191044800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr2:191043400-191044800	Weak transcription	Pancreas	Pancrea
7	chr2:191043600-191044800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr2:191043600-191044800	Enhancers	Brain Angular Gyrus	brain
9	chr2:191043600-191044800	Enhancers	Brain Inferior Temporal Lobe	brain
10	chr2:191043600-191044800	Enhancers	Brain Substantia Nigra	brain
11	chr2:191043800-191044800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr2:191043800-191044800	Enhancers	Fetal Intestine Large	intestine
13	chr2:191044400-191044800	Enhancers	Primary B cells from peripheral blood	blood
14	chr2:191044400-191044800	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr2:191044400-191044800	Enhancers	NHEK	skin
16	chr2:191044400-191044800	Enhancers	Osteobl	bone
17	chr2:191044400-191045000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
18	chr2:191044400-191045000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
19	chr2:191044400-191045000	Enhancers	Small Intestine	intestine
20	chr2:191044400-191045000	Flanking Active TSS	GM12878-XiMat	blood
21	chr2:191044400-191046000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
22	chr2:191044400-191046200	Active TSS	Brain Cingulate Gyrus	brain
23	chr2:191044600-191044800	Flanking Active TSS	H1 Cell Line	embryonic stem cell
24	chr2:191044600-191044800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr2:191044600-191044800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr2:191044600-191044800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr2:191044600-191044800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
28	chr2:191044600-191044800	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
29	chr2:191044600-191044800	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
30	chr2:191044600-191044800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr2:191044600-191044800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr2:191044600-191044800	Enhancers	Primary B cells from cord blood	blood
33	chr2:191044600-191044800	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
34	chr2:191044600-191044800	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr2:191044600-191044800	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
36	chr2:191044600-191044800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr2:191044600-191044800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr2:191044600-191044800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr2:191044600-191044800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr2:191044600-191044800	Enhancers	Liver	Liver
41	chr2:191044600-191044800	Enhancers	Colon Smooth Muscle	Colon
42	chr2:191044600-191044800	Flanking Active TSS	Duodenum Mucosa	Duodenum
43	chr2:191044600-191044800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr2:191044600-191044800	Flanking Active TSS	Fetal Heart	heart
45	chr2:191044600-191044800	Enhancers	Fetal Kidney	kidney
46	chr2:191044600-191044800	Enhancers	Pancreatic Islets	Pancreatic Islet
47	chr2:191044600-191044800	Bivalent Enhancer	Fetal Muscle Leg	muscle
48	chr2:191044600-191044800	Enhancers	Placenta	Placenta
49	chr2:191044600-191044800	Enhancers	Fetal Stomach	stomach
50	chr2:191044600-191044800	Active TSS	Stomach Smooth Muscle	stomach

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