Variant report

Variant	rs531154051
Chromosome Location	chr2:191272544-191272545
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	JUND	chr2:191272364-191272652	K562	blood:	n/a	n/a
2	POLR2A	chr2:191272221-191274903	PBDE	blood:	n/a	n/a
3	PML	chr2:191272148-191273885	GM12878	blood:	n/a	n/a
4	SMARCB1	chr2:191272424-191273869	Hela-S3	cervix:	n/a	n/a
5	EP300	chr2:191272455-191272646	K562	blood:	n/a	n/a
6	POLR2A	chr2:191272446-191273965	GM12878	blood:	n/a	n/a
7	MXI1	chr2:191271838-191274774	SK-N-SH	brain:	n/a	n/a
8	POLR2A	chr2:191272312-191272982	GM12891	blood:	n/a	n/a
9	YY1	chr2:191272495-191272881	H1-hESC	embryonic stem cell:	n/a	chr2:191272840-191272851 chr2:191272795-191272809 chr2:191272840-191272849
10	POLR2A	chr2:191272477-191273785	MCF-7	breast:	n/a	n/a
11	YY1	chr2:191272544-191273812	GM12892	blood:	n/a	chr2:191273279-191273290 chr2:191272840-191272851 chr2:191272795-191272809 chr2:191272946-191272957 chr2:191272840-191272849 chr2:191273489-191273503 chr2:191273492-191273506 chr2:191272925-191272934
12	MAX	chr2:191272526-191273632	H1-hESC	embryonic stem cell:	n/a	chr2:191272940-191272950
13	HDAC2	chr2:191272516-191273919	MCF-7	breast:	n/a	n/a
14	POLR2A	chr2:191272253-191273890	GM12892	blood:	n/a	n/a
15	POLR2A	chr2:191272048-191274022	H1-neurons	neurons:	n/a	n/a
16	POLR2A	chr2:191272270-191273470	GM12892	blood:	n/a	n/a
17	POLR2A	chr2:191272516-191273844	K562	blood:	n/a	n/a
18	MAX	chr2:191272489-191273041	A549	lung:	n/a	chr2:191272940-191272950
19	POLR2A	chr2:191272526-191273769	GM10847	blood:	n/a	n/a
20	POLR2A	chr2:191272456-191273754	K562	blood:	n/a	n/a
21	STAT5A	chr2:191272387-191272839	GM12878	blood:	n/a	n/a
22	POLR2A	chr2:191272366-191273819	GM12878	blood:	n/a	n/a
23	POLR2A	chr2:191272543-191273646	K562	blood:	n/a	n/a
24	MAX	chr2:191272422-191274127	A549	lung:	n/a	chr2:191272940-191272950 chr2:191273660-191273670
25	RFX5	chr2:191272522-191272639	GM12878	blood:	n/a	n/a
26	MTA3	chr2:191271884-191274182	GM12878	blood:	n/a	n/a
27	ELF1	chr2:191272400-191273832	GM12878	blood:	n/a	chr2:191273212-191273224 chr2:191272839-191272851 chr2:191273210-191273219 chr2:191272925-191272934 chr2:191272943-191272955 chr2:191273215-191273227 chr2:191272840-191272849 chr2:191273753-191273764 chr2:191272761-191272773 chr2:191273523-191273536
28	POLR2A	chr2:191272418-191272830	GM12892	blood:	n/a	n/a
29	POLR2A	chr2:191272339-191273837	GM18951	blood:	n/a	n/a
30	ETS1	chr2:191272385-191272847	GM12878	blood:	n/a	chr2:191272637-191272651 chr2:191272676-191272685
31	SIN3A	chr2:191272069-191274071	H1-hESC	embryonic stem cell:	n/a	chr2:191273595-191273608 chr2:191273560-191273573 chr2:191273592-191273600 chr2:191273201-191273212 chr2:191272886-191272895
32	GATA1	chr2:191272190-191273974	PBDE	blood:	n/a	n/a
33	E2F6	chr2:191272453-191273668	K562	blood:	n/a	chr2:191272841-191272851 chr2:191272923-191272933 chr2:191272599-191272606 chr2:191272514-191272523 chr2:191273211-191273221 chr2:191273214-191273224 chr2:191273557-191273564
34	BHLHE40	chr2:191272422-191272635	K562	blood:	n/a	n/a
35	MAZ	chr2:191272419-191273757	IMR90	lung:	n/a	chr2:191272940-191272950 chr2:191273660-191273670
36	CHD2	chr2:191272420-191273079	GM12878	blood:	n/a	chr2:191272599-191272606
37	POLR2A	chr2:191272535-191273900	GM12878	blood:	n/a	n/a
38	ZEB1	chr2:191272484-191273750	GM12878	blood:	n/a	chr2:191272864-191272876 chr2:191273227-191273234
39	POLR2A	chr2:191272397-191273910	GM15510	blood:	n/a	n/a
40	POLR2A	chr2:191272374-191273899	GM18505	blood:	n/a	n/a
41	REST	chr2:191272457-191272658	SK-N-SH	brain:	n/a	chr2:191272509-191272519
42	POLR2A	chr2:191272220-191273713	GM12878	blood:	n/a	n/a
43	POLR2A	chr2:191272542-191272545	Gliobla	brain:	n/a	n/a
44	POLR2A	chr2:191272347-191273859	GM12878	blood:	n/a	n/a
45	YY1	chr2:191272374-191272622	H1-hESC	embryonic stem cell:	n/a	n/a
46	UBTF	chr2:191272484-191273730	K562	blood:	n/a	n/a
47	ELF1	chr2:191272499-191273884	GM12878	blood:	n/a	chr2:191273212-191273224 chr2:191272839-191272851 chr2:191273210-191273219 chr2:191272925-191272934 chr2:191272943-191272955 chr2:191273215-191273227 chr2:191272840-191272849 chr2:191273753-191273764 chr2:191272761-191272773 chr2:191273523-191273536
48	POLR2A	chr2:191272408-191273882	GM19193	blood:	n/a	n/a
49	POLR2A	chr2:191272367-191273823	GM12878	blood:	n/a	n/a
50	MTA3	chr2:191271952-191272796	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:191272262..191274939-chr2:191333629..191335814,2	MCF-7	breast:
2	chr2:191217424..191219549-chr2:191271045..191272978,3	K562	blood:
3	chr2:191218042..191219549-chr2:191271331..191272978,2	K562	blood:
4	chr2:191271631..191274450-chr2:191332507..191334267,2	MCF-7	breast:
5	chr2:191271812..191274120-chr2:191398223..191400840,2	K562	blood:

Variant related genes	Relation type
MFSD6	TF binding region
ENSG00000189362	Chromatin interaction
ENSG00000151690	Chromatin interaction
ENSG00000233654	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	esv3327951	chr2:191272332-191274880	Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:191271600-191272600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr2:191271800-191272800	Flanking Active TSS	Dnd41	blood
3	chr2:191271800-191273800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
4	chr2:191271800-191274400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
5	chr2:191272000-191272600	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
6	chr2:191272000-191272600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
7	chr2:191272000-191272600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
8	chr2:191272000-191272600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
9	chr2:191272000-191272600	Flanking Active TSS	Brain Hippocampus Middle	brain
10	chr2:191272000-191272600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
11	chr2:191272000-191272600	Flanking Active TSS	Fetal Thymus	thymus
12	chr2:191272000-191272600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
13	chr2:191272000-191272800	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr2:191272000-191272800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
15	chr2:191272000-191272800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr2:191272000-191272800	Flanking Active TSS	Duodenum Mucosa	Duodenum
17	chr2:191272000-191273800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr2:191272000-191274000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr2:191272000-191274200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
20	chr2:191272200-191272600	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr2:191272200-191272600	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr2:191272200-191272600	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr2:191272200-191272600	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
24	chr2:191272200-191272600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
25	chr2:191272200-191272600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr2:191272200-191272600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
27	chr2:191272200-191272600	Flanking Active TSS	Brain Cingulate Gyrus	brain
28	chr2:191272200-191272600	Flanking Active TSS	Brain Germinal Matrix	brain
29	chr2:191272200-191272600	Flanking Active TSS	Fetal Brain Male	brain
30	chr2:191272200-191272600	Flanking Active TSS	Fetal Brain Female	brain
31	chr2:191272200-191272600	Flanking Active TSS	Fetal Intestine Large	intestine
32	chr2:191272200-191272600	Flanking Active TSS	Fetal Intestine Small	intestine
33	chr2:191272200-191272600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
34	chr2:191272200-191272600	Flanking Active TSS	Rectal Smooth Muscle	rectum
35	chr2:191272200-191272600	Enhancers	Small Intestine	intestine
36	chr2:191272200-191272600	Flanking Active TSS	Stomach Mucosa	stomach
37	chr2:191272200-191272600	Flanking Active TSS	GM12878-XiMat	blood
38	chr2:191272200-191272600	Bivalent Enhancer	HUVEC	blood vessel
39	chr2:191272200-191272600	Flanking Active TSS	K562	blood
40	chr2:191272200-191272600	Flanking Active TSS	NHEK	skin
41	chr2:191272200-191272600	Bivalent/Poised TSS	NHLF	lung
42	chr2:191272200-191272800	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr2:191272200-191272800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr2:191272200-191272800	Flanking Active TSS	Primary hematopoietic stem cells	blood
45	chr2:191272200-191272800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
46	chr2:191272200-191272800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr2:191272200-191272800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr2:191272200-191272800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr2:191272200-191272800	Flanking Active TSS	Adipose Nuclei	Adipose
50	chr2:191272200-191272800	Flanking Bivalent TSS/Enh	Fetal Lung	lung

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