Variant report

Variant	rs571865715
Chromosome Location	chr2:112811739-112811740
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:180)
CpG islands
(count:61)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:180 , 50 per page) page: 1 2 3 4

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	EBF1	chr2:112811467-112811914	GM12878	blood:	n/a	n/a
7	POLR2A	chr2:112811514-112812158	U87	brain:	n/a	n/a
8	POLR2A	chr2:112811589-112812314	Hela-S3	cervix:	n/a	n/a
9	MAZ	chr2:112811458-112814260	GM12878	blood:	n/a	chr2:112814158-112814167 chr2:112814159-112814168
10	TAF1	chr2:112811545-112811907	K562	blood:	n/a	n/a
11	SIN3AK20	chr2:112811630-112812077	HepG2	liver:	n/a	n/a
12	MAX	chr2:112811384-112811822	A549	lung:	n/a	n/a
13	MAZ	chr2:112811708-112813541	Hela-S3	cervix:	n/a	n/a
14	MAX	chr2:112811426-112812019	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr2:112811587-112812219	K562	blood:	n/a	n/a
16	POLR2A	chr2:112811542-112812136	HepG2	liver:	n/a	n/a
17	SIN3A	chr2:112811232-112812171	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr2:112811390-112812251	U87	brain:	n/a	n/a
19	POLR2A	chr2:112811486-112812164	K562	blood:	n/a	n/a
20	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
21	WRNIP1	chr2:112811434-112812019	GM12878	blood:	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	HEY1	chr2:112811580-112812092	HepG2	liver:	n/a	n/a
25	HCFC1	chr2:112811130-112812302	K562	blood:	n/a	n/a
26	POLR2A	chr2:112811519-112812224	Raji	blood:	n/a	n/a
27	CHD2	chr2:112811505-112812116	HepG2	liver:	n/a	n/a
28	CHD2	chr2:112811649-112812280	GM12878	blood:	n/a	n/a
29	MXI1	chr2:112811268-112812430	SK-N-SH	brain:	n/a	n/a
30	CHD2	chr2:112811610-112812165	H1-hESC	embryonic stem cell:	n/a	n/a
31	GTF2F1	chr2:112811607-112812123	H1-hESC	embryonic stem cell:	n/a	n/a
32	SRF	chr2:112811705-112811922	GM12878	blood:	n/a	n/a
33	POLR2A	chr2:112811553-112812416	GM12892	blood:	n/a	n/a
34	MAX	chr2:112811664-112812262	K562	blood:	n/a	n/a
35	MYC	chr2:112811477-112812211	NB4	blood:	n/a	n/a
36	CEBPD	chr2:112811626-112812026	HepG2	liver:	n/a	n/a
37	HEY1	chr2:112811472-112813400	HepG2	liver:	n/a	n/a
38	POLR2A	chr2:112811165-112815353	K562	blood:	n/a	n/a
39	MXI1	chr2:112811472-112812191	GM12878	blood:	n/a	n/a
40	PBX3	chr2:112811509-112812264	SK-N-SH	brain:	n/a	n/a
41	POLR2A	chr2:112811581-112812130	HCT-116	colon:	n/a	n/a
42	MBD4	chr2:112811422-112812179	HepG2	liver:	n/a	n/a
43	TAF1	chr2:112811548-112812126	H1-hESC	embryonic stem cell:	n/a	n/a
44	POLR2A	chr2:112811656-112814100	GM15510	blood:	n/a	n/a
45	HMGN3	chr2:112811692-112812275	K562	blood:	n/a	n/a
46	SIN3A	chr2:112811461-112812113	GM12878	blood:	n/a	n/a
47	MYC	chr2:112811528-112812316	K562	blood:	n/a	n/a
48	MAZ	chr2:112811358-112813440	HepG2	liver:	n/a	n/a
49	POLR2A	chr2:112811735-112811745	GM12878	blood:	n/a	n/a
50	IRF1	chr2:112811353-112813414	K562	blood:	n/a	chr2:112811825-112811839 chr2:112812115-112812129

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:112811719-112811769	SKMC	muscle:	n/a
2	chr2:112811719-112811769	BE2_C	brain:	n/a
3	chr2:112811719-112811769	ECC-1	luminal epithelium:	n/a
4	chr2:112811719-112811769	AG04450	lung:	fetal
5	chr2:112811719-112811769	HRCEpiC	kidney:	n/a
6	chr2:112811719-112811769	U87	brain:	n/a
7	chr2:112811719-112811769	HEK293	kidney:	embryo
8	chr2:112811719-112811769	HAEpiC	amniotic membrane:	n/a
9	chr2:112811719-112811769	NHBE	bronchial:	n/a
10	chr2:112811719-112811769	GM12892	blood:	n/a
11	chr2:112811719-112811769	PFSK-1	brain:	n/a
12	chr2:112811719-112811769	IMR90	lung:	fetal
13	chr2:112811719-112811769	NT2-D1	testis:	n/a
14	chr2:112811719-112811769	RPTEC	kidney:	n/a
15	chr2:112811719-112811769	HRE	kidney:	n/a
16	chr2:112811719-112811769	GM12891	blood:	n/a
17	chr2:112811719-112811769	AoSMC	blood vessel:	n/a
18	chr2:112811719-112811769	NB4	blood:	n/a
19	chr2:112811719-112811769	HCF	heart:	n/a
20	chr2:112811719-112811769	MCF10A-Er-Src	breast:	n/a
21	chr2:112811719-112811769	K562	blood:	n/a
22	chr2:112811719-112811769	AG09309	skin:	n/a
23	chr2:112811719-112811769	ProgFib	skin:	n/a
24	chr2:112811719-112811769	PrEC	prostate:	n/a
25	chr2:112811719-112811769	HL-60	blood:	n/a
26	chr2:112811719-112811769	SK-N-MC	brain:	n/a
27	chr2:112811719-112811769	H1-hESC	embryonic stem cell:	embryo
28	chr2:112811719-112811769	GM12878	blood:	n/a
29	chr2:112811719-112811769	LNCaP	prostate:	n/a
30	chr2:112811719-112811769	HUVEC	blood vessel:	n/a
31	chr2:112811719-112811769	HMEC	breast:	n/a
32	chr2:112811719-112811769	BJ	skin:	n/a
33	chr2:112811719-112811769	HNPCEpiC	eye:	n/a
34	chr2:112811719-112811769	T-47D	breast:	n/a
35	chr2:112811719-112811769	HPAEpiC	pulmonary alveolar:	n/a
36	chr2:112811719-112811769	HRPEpiC	eye:	n/a
37	chr2:112811719-112811769	A549	lung:	n/a
38	chr2:112811719-112811769	SAEC	small airway:	n/a
39	chr2:112811719-112811769	AG10803	skin:	n/a
40	chr2:112811719-112811769	MCF-7	breast:	n/a
41	chr2:112811719-112811769	Jurkat	blood:	n/a
42	chr2:112811719-112811769	GM19239	blood:	n/a
43	chr2:112811719-112811769	Hepatocyte	liver:	n/a
44	chr2:112811719-112811769	HEEpiC	esophagus:	n/a
45	chr2:112811719-112811769	GM06990	blood:	n/a
46	chr2:112811719-112811769	Hela-S3	cervix:	n/a
47	chr2:112811719-112811769	HCM	heart:	n/a
48	chr2:112811719-112811769	SK-N-SH_RA	brain:	n/a
49	chr2:112811719-112811769	HCPEpiC	choroid plexus:	n/a
50	chr2:112811719-112811769	NHDF-neo	bronchial:	n/a

(count:17 , 50 per page) page: 1

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	chr2:112811382..112813355-chr2:113297904..113301187,3	K562	blood:
7	chr12:95396640..95398340-chr2:112811650..112814617,2	MCF-7	breast:
8	chr2:112811018..112813475-chr2:113401964..113404333,2	K562	blood:
9	chr2:112811348..112812863-chr2:113012587..113014362,2	K562	blood:
10	chr2:112665558..112667722-chr2:112810644..112812668,2	K562	blood:
11	chr2:112811436..112813368-chr2:113032583..113034776,2	K562	blood:
12	chr2:112652127..112657107-chr2:112810449..112814378,4	K562	blood:
13	chr2:112804262..112806076-chr2:112808977..112811892,2	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:

No data

Variant related genes	Relation type
TMEM87B	TF binding region
TMEM87B	CpG island
ENSG00000188177	Chromatin interaction
ENSG00000125630	Chromatin interaction
ENSG00000237753	Chromatin interaction
ENSG00000144161	Chromatin interaction
ENSG00000153208	Chromatin interaction
ENSG00000153107	Chromatin interaction
ENSG00000144136	Chromatin interaction
ENSG00000184752	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:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:112810000-112811800	Weak transcription	Small Intestine	intestine
2	chr2:112811000-112811800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr2:112811000-112811800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr2:112811000-112811800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
5	chr2:112811000-112811800	Flanking Active TSS	Dnd41	blood
6	chr2:112811000-112811800	Flanking Active TSS	K562	blood
7	chr2:112811000-112811800	Flanking Active TSS	NHDF-Ad	bronchial
8	chr2:112811000-112812200	Flanking Active TSS	Stomach Smooth Muscle	stomach
9	chr2:112811200-112811800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:112811200-112811800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
11	chr2:112811200-112811800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr2:112811200-112811800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr2:112811200-112811800	Flanking Active TSS	Primary T cells from cord blood	blood
14	chr2:112811200-112811800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
15	chr2:112811200-112811800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
16	chr2:112811200-112811800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
17	chr2:112811200-112811800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
18	chr2:112811200-112811800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
19	chr2:112811200-112811800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr2:112811200-112811800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
21	chr2:112811200-112811800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr2:112811200-112811800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr2:112811200-112811800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr2:112811200-112811800	Flanking Active TSS	Brain Angular Gyrus	brain
25	chr2:112811200-112811800	Flanking Active TSS	Brain Anterior Caudate	brain
26	chr2:112811200-112811800	Flanking Active TSS	Brain Cingulate Gyrus	brain
27	chr2:112811200-112811800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
28	chr2:112811200-112811800	Flanking Active TSS	Colonic Mucosa	Colon
29	chr2:112811200-112811800	Flanking Active TSS	Fetal Lung	lung
30	chr2:112811200-112811800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
31	chr2:112811200-112811800	Flanking Active TSS	Rectal Smooth Muscle	rectum
32	chr2:112811200-112811800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
33	chr2:112811200-112811800	Flanking Active TSS	Hela-S3	cervix
34	chr2:112811200-112811800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
35	chr2:112811200-112811800	Flanking Active TSS	Osteobl	bone
36	chr2:112811200-112812800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr2:112811200-112813800	Active TSS	HUES48 Cell Line	embryonic stem cell
38	chr2:112811200-112814000	Active TSS	iPS-18 Cell Line	embryonic stem cell
39	chr2:112811200-112814200	Active TSS	ES-I3 Cell Line	embryonic stem cell
40	chr2:112811200-112814200	Active TSS	Pancreatic Islets	Pancreatic Islet
41	chr2:112811200-112814200	Active TSS	A549	lung
42	chr2:112811400-112811800	Flanking Active TSS	H1 Cell Line	embryonic stem cell
43	chr2:112811400-112811800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr2:112811400-112811800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
45	chr2:112811400-112811800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
46	chr2:112811400-112811800	Flanking Active TSS	Primary B cells from cord blood	blood
47	chr2:112811400-112811800	Flanking Active TSS	Primary B cells from peripheral blood	blood
48	chr2:112811400-112811800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
49	chr2:112811400-112811800	Flanking Active TSS	Primary hematopoietic stem cells	blood
50	chr2:112811400-112811800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood

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