Variant report

Variant	rs190048491
Chromosome Location	chr2:112812575-112812576
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	POLR2A	chr2:112812552-112814202	HL-60	blood:	n/a	n/a
2	POLR2A	chr2:112812455-112813169	PANC-1	pancreas:	n/a	n/a
3	TCF12	chr2:112812566-112814311	A549	lung:	n/a	chr2:112813116-112813123
4	EGR1	chr2:112812545-112813275	MCF-7	breast:	n/a	chr2:112812852-112812862 chr2:112812852-112812863 chr2:112812850-112812864 chr2:112812852-112812862 chr2:112812851-112812864 chr2:112812851-112812864 chr2:112812848-112812862 chr2:112812852-112812861 chr2:112812852-112812863 chr2:112812788-112812802
5	TAF1	chr2:112811619-112813666	HepG2	liver:	n/a	n/a
6	POLR2A	chr2:112812520-112814433	U87	brain:	n/a	n/a
7	MAZ	chr2:112811458-112814260	GM12878	blood:	n/a	chr2:112814158-112814167 chr2:112814159-112814168
8	HEY1	chr2:112812363-112812658	K562	blood:	n/a	n/a
9	MXI1	chr2:112812459-112815179	SK-N-SH	brain:	n/a	n/a
10	MAZ	chr2:112811708-112813541	Hela-S3	cervix:	n/a	n/a
11	SIN3AK20	chr2:112812105-112812712	HepG2	liver:	n/a	n/a
12	MAX	chr2:112812522-112814424	HCT-116	colon:	n/a	chr2:112814158-112814167 chr2:112814159-112814168
13	ELF1	chr2:112812464-112813418	K562	blood:	n/a	n/a
14	EGR1	chr2:112812565-112813313	ECC-1	luminal epithelium:	n/a	chr2:112812852-112812862 chr2:112812852-112812863 chr2:112812850-112812864 chr2:112812852-112812862 chr2:112812851-112812864 chr2:112812851-112812864 chr2:112812848-112812862 chr2:112812852-112812861 chr2:112812852-112812863 chr2:112812788-112812802
15	TCF12	chr2:112812030-112812820	HepG2	liver:	n/a	n/a
16	SP1	chr2:112811510-112813097	HepG2	liver:	n/a	chr2:112813043-112813057 chr2:112811828-112811842 chr2:112811827-112811839 chr2:112812788-112812799 chr2:112812725-112812736 chr2:112812118-112812132 chr2:112812099-112812113 chr2:112811827-112811838 chr2:112812746-112812757 chr2:112811829-112811838 chr2:112811863-112811874 chr2:112811968-112811982 chr2:112811882-112811893 chr2:112812062-112812076 chr2:112812611-112812620 chr2:112811827-112811839 chr2:112811828-112811837 chr2:112812117-112812129
17	MAX	chr2:112812501-112814186	MCF-7	breast:	n/a	chr2:112814158-112814167 chr2:112814159-112814168
18	SIN3AK20	chr2:112812512-112813628	PANC-1	pancreas:	n/a	n/a
19	SP1	chr2:112811795-112813212	A549	lung:	n/a	chr2:112813043-112813057 chr2:112811828-112811842 chr2:112811827-112811839 chr2:112812788-112812799 chr2:112812725-112812736 chr2:112812118-112812132 chr2:112812099-112812113 chr2:112811827-112811838 chr2:112812746-112812757 chr2:112811829-112811838 chr2:112811863-112811874 chr2:112811968-112811982 chr2:112811882-112811893 chr2:112812062-112812076 chr2:112812611-112812620 chr2:112811827-112811839 chr2:112811828-112811837 chr2:112812117-112812129
20	ELF1	chr2:112812512-112814257	MCF-7	breast:	n/a	chr2:112813730-112813742
21	POLR2A	chr2:112812555-112813761	K562	blood:	n/a	n/a
22	POLR2A	chr2:112812526-112814789	HUVEC	blood vessel:	n/a	n/a
23	HEY1	chr2:112811472-112813400	HepG2	liver:	n/a	n/a
24	EGR1	chr2:112812551-112813080	H1-hESC	embryonic stem cell:	n/a	chr2:112812852-112812862 chr2:112812852-112812863 chr2:112812850-112812864 chr2:112812852-112812862 chr2:112812851-112812864 chr2:112812851-112812864 chr2:112812848-112812862 chr2:112812852-112812861 chr2:112812852-112812863 chr2:112812788-112812802
25	POLR2A	chr2:112811165-112815353	K562	blood:	n/a	n/a
26	POLR2A	chr2:112811873-112812695	A549	lung:	n/a	n/a
27	USF1	chr2:112812083-112812619	GM12878	blood:	n/a	n/a
28	GABPA	chr2:112812388-112812687	GM12878	blood:	n/a	n/a
29	USF1	chr2:112812279-112812695	HepG2	liver:	n/a	n/a
30	POLR2A	chr2:112812510-112814158	K562	blood:	n/a	n/a
31	EGR1	chr2:112812495-112813013	GM12878	blood:	n/a	chr2:112812852-112812862 chr2:112812852-112812863 chr2:112812850-112812864 chr2:112812852-112812862 chr2:112812851-112812864 chr2:112812851-112812864 chr2:112812848-112812862 chr2:112812852-112812861 chr2:112812852-112812863 chr2:112812788-112812802
32	POLR2A	chr2:112811656-112814100	GM15510	blood:	n/a	n/a
33	MAZ	chr2:112811358-112813440	HepG2	liver:	n/a	n/a
34	MYC	chr2:112812522-112814213	NB4	blood:	n/a	chr2:112814158-112814167 chr2:112814159-112814168
35	EGR1	chr2:112812541-112813137	GM12878	blood:	n/a	chr2:112812852-112812862 chr2:112812852-112812863 chr2:112812850-112812864 chr2:112812852-112812862 chr2:112812851-112812864 chr2:112812851-112812864 chr2:112812848-112812862 chr2:112812852-112812861 chr2:112812852-112812863 chr2:112812788-112812802
36	IRF1	chr2:112811353-112813414	K562	blood:	n/a	chr2:112811825-112811839 chr2:112812115-112812129
37	SP4	chr2:112812495-112813159	H1-hESC	embryonic stem cell:	n/a	chr2:112812788-112812799 chr2:112812725-112812736 chr2:112812746-112812757
38	JUND	chr2:112812075-112812633	HepG2	liver:	n/a	chr2:112812126-112812140
39	CEBPD	chr2:112812550-112813115	HepG2	liver:	n/a	n/a
40	SP1	chr2:112811539-112813141	GM12878	blood:	n/a	chr2:112813043-112813057 chr2:112811828-112811842 chr2:112811827-112811839 chr2:112812788-112812799 chr2:112812725-112812736 chr2:112812118-112812132 chr2:112812099-112812113 chr2:112811827-112811838 chr2:112812746-112812757 chr2:112811829-112811838 chr2:112811863-112811874 chr2:112811968-112811982 chr2:112811882-112811893 chr2:112812062-112812076 chr2:112812611-112812620 chr2:112811827-112811839 chr2:112811828-112811837 chr2:112812117-112812129
41	RXRA	chr2:112812415-112812667	GM12878	blood:	n/a	n/a
42	POLR2A	chr2:112812541-112814771	HUVEC	blood vessel:	n/a	n/a
43	POLR2A	chr2:112812541-112814421	Hela-S3	cervix:	n/a	n/a
44	SP1	chr2:112811703-112813129	K562	blood:	n/a	chr2:112813043-112813057 chr2:112811828-112811842 chr2:112811827-112811839 chr2:112812788-112812799 chr2:112812725-112812736 chr2:112812118-112812132 chr2:112812099-112812113 chr2:112811827-112811838 chr2:112812746-112812757 chr2:112811829-112811838 chr2:112811863-112811874 chr2:112811968-112811982 chr2:112811882-112811893 chr2:112812062-112812076 chr2:112812611-112812620 chr2:112811827-112811839 chr2:112811828-112811837 chr2:112812117-112812129
45	SRF	chr2:112812549-112812721	GM12878	blood:	n/a	n/a
46	ELF1	chr2:112812522-112813353	HepG2	liver:	n/a	n/a
47	MAZ	chr2:112811440-112814385	IMR90	lung:	n/a	chr2:112814158-112814167 chr2:112814159-112814168
48	TCF12	chr2:112812540-112813544	ECC-1	luminal epithelium:	n/a	chr2:112813116-112813123
49	SP4	chr2:112812547-112812991	H1-hESC	embryonic stem cell:	n/a	chr2:112812788-112812799 chr2:112812725-112812736 chr2:112812746-112812757
50	POLR2A	chr2:112812569-112814268	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:112811580..112813458-chr2:113297904..113301248,3	K562	blood:
2	chr2:112653818..112657765-chr2:112811676..112815783,10	MCF-7	breast:
3	chr2:112640103..112643601-chr2:112810245..112815342,15	MCF-7	breast:
4	chr2:112654702..112658000-chr2:112810291..112813027,3	K562	blood:
5	chr2:112812169..112814441-chr2:113238418..113240950,3	K562	blood:
6	chr2:112640495..112643597-chr2:112811494..112814256,4	K562	blood:
7	chr2:112687076..112688579-chr2:112812009..112814430,2	MCF-7	breast:
8	chr2:112811382..112813355-chr2:113297904..113301187,3	K562	blood:
9	chr12:95396640..95398340-chr2:112811650..112814617,2	MCF-7	breast:
10	chr2:112811018..112813475-chr2:113401964..113404333,2	K562	blood:
11	chr2:112811348..112812863-chr2:113012587..113014362,2	K562	blood:
12	chr2:112665558..112667722-chr2:112810644..112812668,2	K562	blood:
13	chr2:112654612..112656528-chr2:112812544..112814421,2	MCF-7	breast:
14	chr2:112811436..112813368-chr2:113032583..113034776,2	K562	blood:
15	chr2:112652127..112657107-chr2:112810449..112814378,4	K562	blood:
16	chr2:112640328..112643621-chr2:112811494..112814946,7	K562	blood:
17	chr2:112811348..112813831-chr2:113012320..113014362,3	K562	blood:
18	chr2:112811397..112814190-chr2:113032583..113035282,3	K562	blood:
19	chr2:112640258..112642885-chr2:112811655..112814153,4	MCF-7	breast:

Variant related genes	Relation type
TMEM87B	TF binding region
ENSG00000184752	Chromatin interaction
ENSG00000240183	Chromatin interaction
ENSG00000144161	Chromatin interaction
ENSG00000125630	Chromatin interaction
ENSG00000237753	Chromatin interaction
ENSG00000188177	Chromatin interaction
ENSG00000153107	Chromatin interaction
ENSG00000114999	Chromatin interaction
ENSG00000153208	Chromatin interaction
ENSG00000144136	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874863	chr2:112591224-113157344	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv874864	chr2:112617280-113104142	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv874865	chr2:112623098-113049274	Enhancers Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
4	nsv1013218	chr2:112645633-112908416	Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	esv3333591	chr2:112669320-112892618	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv1002027	chr2:112679182-112861534	Weak transcription Genic enhancers Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv1014787	chr2:112679182-112908416	Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
8	nsv535893	chr2:112679182-112908416	Strong transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
9	nsv1003129	chr2:112691270-112816694	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
10	esv1793068	chr2:112784234-112816694	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
11	esv3441081	chr2:112811306-112813729	Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
12	esv3409074	chr2:112811506-112814054	Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
13	esv1072213	chr2:112812527-112812575	Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:112811200-112812800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr2:112811200-112813800	Active TSS	HUES48 Cell Line	embryonic stem cell
3	chr2:112811200-112814000	Active TSS	iPS-18 Cell Line	embryonic stem cell
4	chr2:112811200-112814200	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr2:112811200-112814200	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr2:112811200-112814200	Active TSS	A549	lung
7	chr2:112811400-112813800	Active TSS	HSMM	muscle
8	chr2:112811400-112814000	Active TSS	iPS-20b Cell Line	embryonic stem cell
9	chr2:112811400-112814000	Active TSS	Fetal Brain Female	brain
10	chr2:112811400-112814200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr2:112811400-112814200	Active TSS	Psoas Muscle	Psoas
12	chr2:112811400-112814400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr2:112811400-112814400	Active TSS	Ovary	ovary
14	chr2:112811400-112814600	Active TSS	Left Ventricle	heart
15	chr2:112811400-112814800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr2:112811400-112814800	Active TSS	Fetal Muscle Trunk	muscle
17	chr2:112811400-112814800	Active TSS	HSMMtube	muscle
18	chr2:112811600-112813000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr2:112811600-112813000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr2:112811600-112813800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
21	chr2:112811600-112813800	Active TSS	Brain Hippocampus Middle	brain
22	chr2:112811600-112813800	Active TSS	Brain Substantia Nigra	brain
23	chr2:112811600-112814000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr2:112811600-112814000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr2:112811600-112814000	Active TSS	H9 Cell Line	embryonic stem cell
26	chr2:112811600-112814000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr2:112811600-112814000	Active TSS	iPS-15b Cell Line	embryonic stem cell
28	chr2:112811600-112814000	Active TSS	Colon Smooth Muscle	Colon
29	chr2:112811600-112814000	Active TSS	Fetal Stomach	stomach
30	chr2:112811600-112814000	Active TSS	Placenta Amnion	Placenta Amnion
31	chr2:112811600-112814000	Active TSS	GM12878-XiMat	blood
32	chr2:112811600-112814000	Bivalent/Poised TSS	HepG2	liver
33	chr2:112811600-112814200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr2:112811600-112814200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr2:112811600-112814200	Active TSS	HUES6 Cell Line	embryonic stem cell
36	chr2:112811600-112814200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr2:112811600-112814200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr2:112811600-112814200	Active TSS	Duodenum Smooth Muscle	Duodenum
39	chr2:112811600-112814200	Active TSS	Esophagus	oesophagus
40	chr2:112811600-112814400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr2:112811600-112814600	Active TSS	Right Ventricle	heart
42	chr2:112811600-112814800	Active TSS	Fetal Kidney	kidney
43	chr2:112811800-112812800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
44	chr2:112811800-112812800	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
45	chr2:112811800-112812800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
46	chr2:112811800-112812800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr2:112811800-112812800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr2:112811800-112813000	Active TSS	Primary B cells from cord blood	blood
49	chr2:112811800-112813000	Active TSS	Primary hematopoietic stem cells short term culture	blood
50	chr2:112811800-112813000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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