Variant report

Variant	rs150133810
Chromosome Location	chr2:191044921-191044922
allele	A/C
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	CTCF	chr2:191044829-191045592	GM12878	blood:	n/a	chr2:191045026-191045044 chr2:191045468-191045486 chr2:191045028-191045041
2	CCNT2	chr2:191044878-191045889	K562	blood:	n/a	n/a
3	NFIC	chr2:191044835-191046090	HepG2	liver:	n/a	n/a
4	POLR2A	chr2:191044910-191045776	K562	blood:	n/a	n/a
5	RAD21	chr2:191044859-191045807	HepG2	liver:	n/a	chr2:191045028-191045042 chr2:191045470-191045484 chr2:191045466-191045485 chr2:191045670-191045683 chr2:191045483-191045497 chr2:191045028-191045038 chr2:191045155-191045165 chr2:191045716-191045729
6	MAZ	chr2:191044847-191046275	K562	blood:	n/a	chr2:191045708-191045718 chr2:191045362-191045372
7	HNF4A	chr2:191044892-191045875	HepG2	liver:	n/a	chr2:191045652-191045670 chr2:191045654-191045668 chr2:191045653-191045668 chr2:191045653-191045668 chr2:191045654-191045667 chr2:191045655-191045667 chr2:191045650-191045672 chr2:191045655-191045668 chr2:191045653-191045668 chr2:191045655-191045667 chr2:191045653-191045668
8	POLR2A	chr2:191044855-191045911	GM18526	blood:	n/a	n/a
9	CTCF	chr2:191044921-191045221	K562	blood:	n/a	chr2:191045026-191045044 chr2:191045028-191045041
10	POLR2A	chr2:191044862-191046235	K562	blood:	n/a	n/a
11	TBP	chr2:191044874-191045694	H1-hESC	embryonic stem cell:	n/a	n/a
12	CTCF	chr2:191044905-191045239	GM12878	blood:	n/a	chr2:191045026-191045044 chr2:191045028-191045041
13	CTCF	chr2:191044903-191045259	A549	lung:	n/a	chr2:191045026-191045044 chr2:191045028-191045041
14	GTF3C2	chr2:191044891-191045927	K562	blood:	n/a	n/a
15	CTCF	chr2:191044807-191045246	MCF-7	breast:	n/a	chr2:191045026-191045044 chr2:191045028-191045041
16	CTCF	chr2:191044913-191045181	GM10266	blood:	n/a	chr2:191045026-191045044 chr2:191045028-191045041
17	CTCF	chr2:191044900-191045050	HMF	breast:	n/a	chr2:191045026-191045044 chr2:191045028-191045041
18	KAP1	chr2:191044490-191045576	HEK293	kidney:	n/a	n/a
19	YY1	chr2:191044879-191045617	GM12878	blood:	n/a	chr2:191045470-191045478 chr2:191045018-191045032 chr2:191045277-191045291 chr2:191045467-191045486
20	YY1	chr2:191044859-191045174	GM12892	blood:	n/a	chr2:191045018-191045032
21	RCOR1	chr2:191044568-191045567	GM12878	blood:	n/a	n/a
22	POLR2A	chr2:191044813-191045978	ECC-1	luminal epithelium:	n/a	n/a
23	MAX	chr2:191044294-191046089	HepG2	liver:	n/a	chr2:191045708-191045718 chr2:191045362-191045372
24	CTCF	chr2:191044900-191045050	Hela-S3	cervix:	n/a	chr2:191045026-191045044 chr2:191045028-191045041
25	MXI1	chr2:191044566-191045986	GM12878	blood:	n/a	chr2:191045634-191045649
26	CTCF	chr2:191044897-191045589	GM19239	blood:	n/a	chr2:191045026-191045044 chr2:191045468-191045486 chr2:191045028-191045041
27	MAZ	chr2:191044822-191045978	HepG2	liver:	n/a	chr2:191045708-191045718 chr2:191045362-191045372
28	RAD21	chr2:191044858-191045208	A549	lung:	n/a	chr2:191045028-191045042 chr2:191045028-191045038 chr2:191045155-191045165
29	REST	chr2:191044894-191045348	HepG2	liver:	n/a	chr2:191044969-191044982 chr2:191045054-191045067 chr2:191045172-191045185
30	SMC3	chr2:191044820-191045211	K562	blood:	n/a	n/a
31	CTCF	chr2:191044681-191045578	HCT-116	colon:	n/a	chr2:191045026-191045044 chr2:191045468-191045486 chr2:191045028-191045041
32	MXI1	chr2:191044760-191046144	HepG2	liver:	n/a	chr2:191045634-191045649
33	ZBTB7A	chr2:191044834-191046042	ECC-1	luminal epithelium:	n/a	chr2:191045027-191045035 chr2:191045112-191045121
34	RAD21	chr2:191044895-191045157	GM12878	blood:	n/a	chr2:191045028-191045042 chr2:191045028-191045038
35	PAX5	chr2:191044834-191045256	GM12878	blood:	n/a	n/a
36	RAD21	chr2:191044844-191045332	H1-hESC	embryonic stem cell:	n/a	chr2:191045028-191045042 chr2:191045028-191045038 chr2:191045155-191045165
37	CTCF	chr2:191044881-191045483	GM19238	blood:	n/a	chr2:191045026-191045044 chr2:191045028-191045041
38	RAD21	chr2:191044857-191045230	GM12878	blood:	n/a	chr2:191045028-191045042 chr2:191045028-191045038 chr2:191045155-191045165
39	HEY1	chr2:191044798-191045901	HepG2	liver:	n/a	chr2:191045810-191045825 chr2:191045348-191045363 chr2:191045754-191045769
40	YY1	chr2:191044818-191045659	K562	blood:	n/a	chr2:191045470-191045478 chr2:191045018-191045032 chr2:191045277-191045291 chr2:191045627-191045636 chr2:191045467-191045486
41	RAD21	chr2:191044815-191045256	A549	lung:	n/a	chr2:191045028-191045042 chr2:191045028-191045038 chr2:191045155-191045165
42	EP300	chr2:191044444-191045208	GM12878	blood:	n/a	n/a
43	POLR2A	chr2:191044837-191045906	GM18951	blood:	n/a	n/a
44	CTCF	chr2:191044920-191045070	HPF	lung:	n/a	chr2:191045026-191045044 chr2:191045028-191045041
45	EP300	chr2:191044752-191045329	HepG2	liver:	n/a	chr2:191045276-191045285
46	GABPA	chr2:191044899-191045123	H1-hESC	embryonic stem cell:	n/a	n/a
47	POLR2A	chr2:191044888-191045745	HCT-116	colon:	n/a	n/a
48	CHD2	chr2:191044672-191045530	GM12878	blood:	n/a	n/a
49	MAX	chr2:191044849-191045975	K562	blood:	n/a	chr2:191045708-191045718 chr2:191045362-191045372
50	SMC3	chr2:191044900-191045120	HepG2	liver:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:191044915-191044965	HEK293	kidney:	embryo
2	chr2:191044915-191044965	GM19239	blood:	n/a
3	chr2:191044915-191044965	HCF	heart:	n/a
4	chr2:191044915-191044965	HNPCEpiC	eye:	n/a
5	chr2:191044915-191044965	HEEpiC	esophagus:	n/a
6	chr2:191044915-191044965	SK-N-SH	brain:	n/a
7	chr2:191044915-191044965	ovcar-3	ovarian:	n/a
8	chr2:191044915-191044965	AoSMC	blood vessel:	n/a
9	chr2:191044915-191044965	Jurkat	blood:	n/a
10	chr2:191044915-191044965	AG04449	skin:	fetal
11	chr2:191044915-191044965	ProgFib	skin:	n/a
12	chr2:191044915-191044965	NH-A	brain:	n/a
13	chr2:191044915-191044965	RPTEC	kidney:	n/a
14	chr2:191044915-191044965	HRCEpiC	kidney:	n/a
15	chr2:191044915-191044965	GM06990	blood:	n/a
16	chr2:191044915-191044965	HL-60	blood:	n/a
17	chr2:191044915-191044965	HCT-116	colon:	n/a
18	chr2:191044915-191044965	Hepatocyte	liver:	n/a
19	chr2:191044915-191044965	K562	blood:	n/a
20	chr2:191044915-191044965	ECC-1	luminal epithelium:	n/a
21	chr2:191044915-191044965	HMEC	breast:	n/a
22	chr2:191044915-191044965	IMR90	lung:	fetal
23	chr2:191044915-191044965	BE2_C	brain:	n/a
24	chr2:191044915-191044965	Caco-2	colon:	n/a
25	chr2:191044915-191044965	PANC-1	pancreas:	n/a
26	chr2:191044915-191044965	Hela-S3	cervix:	n/a
27	chr2:191044915-191044965	HCPEpiC	choroid plexus:	n/a
28	chr2:191044915-191044965	AG09309	skin:	n/a
29	chr2:191044915-191044965	H1-hESC	embryonic stem cell:	embryo
30	chr2:191044915-191044965	HPAEpiC	pulmonary alveolar:	n/a
31	chr2:191044915-191044965	HAEpiC	amniotic membrane:	n/a
32	chr2:191044915-191044965	HRE	kidney:	n/a
33	chr2:191044915-191044965	HIPEpiC	eye:	n/a
34	chr2:191044915-191044965	AG04450	lung:	fetal
35	chr2:191044915-191044965	NT2-D1	testis:	n/a
36	chr2:191044915-191044965	PrEC	prostate:	n/a
37	chr2:191044915-191044965	A549	lung:	n/a
38	chr2:191044915-191044965	SKMC	muscle:	n/a
39	chr2:191044915-191044965	MCF10A-Er-Src	breast:	n/a
40	chr2:191044915-191044965	SK-N-MC	brain:	n/a
41	chr2:191044915-191044965	HRPEpiC	eye:	n/a
42	chr2:191044915-191044965	GM12878	blood:	n/a
43	chr2:191044915-191044965	HepG2	liver:	n/a
44	chr2:191044915-191044965	AG10803	skin:	n/a
45	chr2:191044915-191044965	NHBE	bronchial:	n/a
46	chr2:191044915-191044965	PFSK-1	brain:	n/a
47	chr2:191044915-191044965	MCF-7	breast:	n/a
48	chr2:191044915-191044965	HUVEC	blood vessel:	n/a
49	chr2:191044915-191044965	HCM	heart:	n/a
50	chr2:191044915-191044965	SK-N-SH_RA	brain:	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
C2orf88	CpG island
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:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:191044400-191045000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
2	chr2:191044400-191045000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
3	chr2:191044400-191045000	Enhancers	Small Intestine	intestine
4	chr2:191044400-191045000	Flanking Active TSS	GM12878-XiMat	blood
5	chr2:191044400-191046000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
6	chr2:191044400-191046200	Active TSS	Brain Cingulate Gyrus	brain
7	chr2:191044600-191045000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:191044600-191045000	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
9	chr2:191044600-191045000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr2:191044600-191045000	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
11	chr2:191044600-191045000	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
12	chr2:191044600-191045000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
13	chr2:191044600-191045000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr2:191044600-191045000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr2:191044600-191045000	Flanking Active TSS	Brain Anterior Caudate	brain
16	chr2:191044600-191045000	Flanking Active TSS	Brain Hippocampus Middle	brain
17	chr2:191044600-191045000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
18	chr2:191044600-191045000	Flanking Active TSS	Fetal Intestine Small	intestine
19	chr2:191044600-191045000	Enhancers	Placenta Amnion	Placenta Amnion
20	chr2:191044600-191045000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
21	chr2:191044600-191045000	Flanking Active TSS	Rectal Smooth Muscle	rectum
22	chr2:191044600-191045000	Flanking Active TSS	Stomach Mucosa	stomach
23	chr2:191044600-191045000	Flanking Active TSS	A549	lung
24	chr2:191044600-191045000	Flanking Bivalent TSS/Enh	HepG2	liver
25	chr2:191044600-191045000	Flanking Active TSS	NHDF-Ad	bronchial
26	chr2:191044600-191045200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr2:191044600-191045200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
28	chr2:191044600-191045200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
29	chr2:191044600-191045200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
30	chr2:191044600-191045400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr2:191044600-191045400	Flanking Active TSS	Adipose Nuclei	Adipose
32	chr2:191044600-191045400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
33	chr2:191044600-191045400	Flanking Active TSS	NH-A	brain
34	chr2:191044600-191046000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
35	chr2:191044600-191046000	Active TSS	Fetal Lung	lung
36	chr2:191044600-191046200	Active TSS	H9 Cell Line	embryonic stem cell
37	chr2:191044600-191046400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
38	chr2:191044600-191046400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
39	chr2:191044600-191046600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
40	chr2:191044800-191045000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
41	chr2:191044800-191045000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr2:191044800-191045000	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr2:191044800-191045000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr2:191044800-191045000	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr2:191044800-191045000	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr2:191044800-191045000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr2:191044800-191045000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
48	chr2:191044800-191045000	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
49	chr2:191044800-191045000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr2:191044800-191045000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin

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