Variant report

Variant	rs570142071
Chromosome Location	chr2:112812017-112812018
allele	A/G
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	MAX	chr2:112811590-112812245	SK-N-SH	brain:	n/a	n/a
2	POLR2A	chr2:112811043-112812168	GM12891	blood:	n/a	n/a
3	MAX	chr2:112811582-112812319	GM12878	blood:	n/a	n/a
4	POLR2A	chr2:112811521-112812394	K562	blood:	n/a	n/a
5	TAF1	chr2:112811619-112813666	HepG2	liver:	n/a	n/a
6	POLR2A	chr2:112811514-112812158	U87	brain:	n/a	n/a
7	POLR2A	chr2:112811589-112812314	Hela-S3	cervix:	n/a	n/a
8	MAZ	chr2:112811458-112814260	GM12878	blood:	n/a	chr2:112814158-112814167 chr2:112814159-112814168
9	POLR2A	chr2:112811830-112812109	GM12878	blood:	n/a	n/a
10	SIN3AK20	chr2:112811630-112812077	HepG2	liver:	n/a	n/a
11	MAZ	chr2:112811708-112813541	Hela-S3	cervix:	n/a	n/a
12	MAX	chr2:112811426-112812019	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr2:112811587-112812219	K562	blood:	n/a	n/a
14	POLR2A	chr2:112811542-112812136	HepG2	liver:	n/a	n/a
15	SIN3A	chr2:112811232-112812171	H1-hESC	embryonic stem cell:	n/a	n/a
16	MYC	chr2:112811859-112812378	MCF-7	breast:	n/a	n/a
17	POLR2A	chr2:112811390-112812251	U87	brain:	n/a	n/a
18	POLR2A	chr2:112811486-112812164	K562	blood:	n/a	n/a
19	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
20	WRNIP1	chr2:112811434-112812019	GM12878	blood:	n/a	n/a
21	POLR2A	chr2:112811995-112812035	A549	lung:	n/a	n/a
22	YY1	chr2:112811599-112812215	K562	blood:	n/a	chr2:112811821-112811835
23	POLR2A	chr2:112811615-112812194	Hela-S3	cervix:	n/a	n/a
24	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
25	RUNX3	chr2:112811840-112812140	GM12878	blood:	n/a	n/a
26	HEY1	chr2:112811580-112812092	HepG2	liver:	n/a	n/a
27	HCFC1	chr2:112811130-112812302	K562	blood:	n/a	n/a
28	POLR2A	chr2:112811519-112812224	Raji	blood:	n/a	n/a
29	CHD2	chr2:112811505-112812116	HepG2	liver:	n/a	n/a
30	CHD2	chr2:112811649-112812280	GM12878	blood:	n/a	n/a
31	MXI1	chr2:112811268-112812430	SK-N-SH	brain:	n/a	n/a
32	CHD2	chr2:112811610-112812165	H1-hESC	embryonic stem cell:	n/a	n/a
33	GTF2F1	chr2:112811607-112812123	H1-hESC	embryonic stem cell:	n/a	n/a
34	POLR2A	chr2:112811553-112812416	GM12892	blood:	n/a	n/a
35	MAX	chr2:112811664-112812262	K562	blood:	n/a	n/a
36	MYC	chr2:112811477-112812211	NB4	blood:	n/a	n/a
37	CEBPD	chr2:112811626-112812026	HepG2	liver:	n/a	n/a
38	HEY1	chr2:112811472-112813400	HepG2	liver:	n/a	n/a
39	POLR2A	chr2:112811165-112815353	K562	blood:	n/a	n/a
40	MXI1	chr2:112811472-112812191	GM12878	blood:	n/a	n/a
41	PBX3	chr2:112811509-112812264	SK-N-SH	brain:	n/a	n/a
42	POLR2A	chr2:112811873-112812695	A549	lung:	n/a	n/a
43	POLR2A	chr2:112811581-112812130	HCT-116	colon:	n/a	n/a
44	MBD4	chr2:112811422-112812179	HepG2	liver:	n/a	n/a
45	TAF1	chr2:112811548-112812126	H1-hESC	embryonic stem cell:	n/a	n/a
46	POLR2A	chr2:112811656-112814100	GM15510	blood:	n/a	n/a
47	HMGN3	chr2:112811692-112812275	K562	blood:	n/a	n/a
48	SIN3A	chr2:112811461-112812113	GM12878	blood:	n/a	n/a
49	MYC	chr2:112811528-112812316	K562	blood:	n/a	n/a
50	MAZ	chr2:112811358-112813440	HepG2	liver:	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	chr2:112640495..112643597-chr2:112811494..112814256,4	K562	blood:
6	chr2:112687076..112688579-chr2:112812009..112814430,2	MCF-7	breast:
7	chr2:112811382..112813355-chr2:113297904..113301187,3	K562	blood:
8	chr12:95396640..95398340-chr2:112811650..112814617,2	MCF-7	breast:
9	chr2:112811018..112813475-chr2:113401964..113404333,2	K562	blood:
10	chr2:112811348..112812863-chr2:113012587..113014362,2	K562	blood:
11	chr2:112665558..112667722-chr2:112810644..112812668,2	K562	blood:
12	chr2:112811436..112813368-chr2:113032583..113034776,2	K562	blood:
13	chr2:112652127..112657107-chr2:112810449..112814378,4	K562	blood:
14	chr2:112640328..112643621-chr2:112811494..112814946,7	K562	blood:
15	chr2:112811348..112813831-chr2:113012320..113014362,3	K562	blood:
16	chr2:112811397..112814190-chr2:113032583..113035282,3	K562	blood:
17	chr2:112640258..112642885-chr2:112811655..112814153,4	MCF-7	breast:

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

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:112811000-112812200	Flanking Active TSS	Stomach Smooth Muscle	stomach
2	chr2:112811200-112812800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr2:112811200-112813800	Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr2:112811200-112814000	Active TSS	iPS-18 Cell Line	embryonic stem cell
5	chr2:112811200-112814200	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr2:112811200-112814200	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr2:112811200-112814200	Active TSS	A549	lung
8	chr2:112811400-112812200	Active TSS	Fetal Brain Male	brain
9	chr2:112811400-112813800	Active TSS	HSMM	muscle
10	chr2:112811400-112814000	Active TSS	iPS-20b Cell Line	embryonic stem cell
11	chr2:112811400-112814000	Active TSS	Fetal Brain Female	brain
12	chr2:112811400-112814200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr2:112811400-112814200	Active TSS	Psoas Muscle	Psoas
14	chr2:112811400-112814400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr2:112811400-112814400	Active TSS	Ovary	ovary
16	chr2:112811400-112814600	Active TSS	Left Ventricle	heart
17	chr2:112811400-112814800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr2:112811400-112814800	Active TSS	Fetal Muscle Trunk	muscle
19	chr2:112811400-112814800	Active TSS	HSMMtube	muscle
20	chr2:112811600-112813000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr2:112811600-112813000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr2:112811600-112813800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
23	chr2:112811600-112813800	Active TSS	Brain Hippocampus Middle	brain
24	chr2:112811600-112813800	Active TSS	Brain Substantia Nigra	brain
25	chr2:112811600-112814000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr2:112811600-112814000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr2:112811600-112814000	Active TSS	H9 Cell Line	embryonic stem cell
28	chr2:112811600-112814000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr2:112811600-112814000	Active TSS	iPS-15b Cell Line	embryonic stem cell
30	chr2:112811600-112814000	Active TSS	Colon Smooth Muscle	Colon
31	chr2:112811600-112814000	Active TSS	Fetal Stomach	stomach
32	chr2:112811600-112814000	Active TSS	Placenta Amnion	Placenta Amnion
33	chr2:112811600-112814000	Active TSS	GM12878-XiMat	blood
34	chr2:112811600-112814000	Bivalent/Poised TSS	HepG2	liver
35	chr2:112811600-112814200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr2:112811600-112814200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr2:112811600-112814200	Active TSS	HUES6 Cell Line	embryonic stem cell
38	chr2:112811600-112814200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr2:112811600-112814200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr2:112811600-112814200	Active TSS	Duodenum Smooth Muscle	Duodenum
41	chr2:112811600-112814200	Active TSS	Esophagus	oesophagus
42	chr2:112811600-112814400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr2:112811600-112814600	Active TSS	Right Ventricle	heart
44	chr2:112811600-112814800	Active TSS	Fetal Kidney	kidney
45	chr2:112811800-112812200	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
46	chr2:112811800-112812800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
47	chr2:112811800-112812800	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
48	chr2:112811800-112812800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
49	chr2:112811800-112812800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr2:112811800-112812800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin

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