Variant report

Variant	rs2251775
Chromosome Location	chr2:183988599-183988600
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	RCOR1	chr2:183988409-183990114	K562	blood:	n/a	n/a
2	NFIC	chr2:183988531-183989791	HepG2	liver:	n/a	n/a
3	ATF3	chr2:183988586-183989641	A549	lung:	n/a	n/a
4	TEAD4	chr2:183988225-183990160	HepG2	liver:	n/a	n/a
5	WRNIP1	chr2:183988501-183989812	GM12878	blood:	n/a	n/a
6	MXI1	chr2:183988509-183990143	K562	blood:	n/a	chr2:183989619-183989628
7	ARID3A	chr2:183988399-183989979	HepG2	liver:	n/a	n/a
8	ZNF143	chr2:183988571-183989879	K562	blood:	n/a	n/a
9	POLR2A	chr2:183988323-183989954	HepG2	liver:	n/a	n/a
10	MAFF	chr2:183988429-183989223	HepG2	liver:	n/a	n/a
11	CEBPB	chr2:183988536-183989866	HCT-116	colon:	n/a	chr2:183989080-183989089 chr2:183989080-183989089 chr2:183989078-183989091 chr2:183989080-183989089
12	POLR2A	chr2:183988461-183989941	GM12878	blood:	n/a	n/a
13	SP1	chr2:183988564-183989888	A549	lung:	n/a	n/a
14	ATF1	chr2:183988548-183989798	K562	blood:	n/a	n/a
15	MYBL2	chr2:183988345-183990131	HepG2	liver:	n/a	n/a
16	CEBPB	chr2:183988456-183989689	GM12878	blood:	n/a	chr2:183989080-183989089 chr2:183989080-183989089 chr2:183989078-183989091 chr2:183989080-183989089
17	MXI1	chr2:183988479-183989948	HepG2	liver:	n/a	chr2:183989619-183989628
18	JUND	chr2:183988483-183989255	HepG2	liver:	n/a	n/a
19	MAX	chr2:183988498-183989984	K562	blood:	n/a	chr2:183989490-183989506
20	POLR2A	chr2:183988503-183990008	K562	blood:	n/a	n/a
21	YY1	chr2:183988572-183989771	GM12878	blood:	n/a	chr2:183989033-183989041 chr2:183989022-183989044
22	REST	chr2:183988416-183990120	H1-neurons	neurons:	n/a	n/a
23	BCL3	chr2:183988433-183989951	A549	lung:	n/a	n/a
24	TCF12	chr2:183988572-183990030	A549	lung:	n/a	n/a
25	PML	chr2:183988581-183989985	K562	blood:	n/a	n/a
26	RELA	chr2:183988478-183989826	GM15510	blood:	n/a	n/a
27	POLR2A	chr2:183988474-183989858	Hela-S3	cervix:	n/a	n/a
28	CREB1	chr2:183988511-183990580	K562	blood:	n/a	n/a
29	MAX	chr2:183988466-183990148	Hela-S3	cervix:	n/a	chr2:183989490-183989506
30	MYC	chr2:183988498-183990114	K562	blood:	n/a	chr2:183989490-183989506
31	POLR2A	chr2:183988598-183989833	Hela-S3	cervix:	n/a	n/a
32	USF2	chr2:183988445-183989864	Hela-S3	cervix:	n/a	n/a
33	POLR2A	chr2:183988489-183989779	HCT-116	colon:	n/a	n/a
34	RELA	chr2:183988429-183989968	GM12891	blood:	n/a	n/a
35	CHD1	chr2:183988576-183990426	H1-hESC	embryonic stem cell:	n/a	n/a
36	MTA3	chr2:183988565-183989987	GM12878	blood:	n/a	n/a
37	MAFF	chr2:183988287-183989341	K562	blood:	n/a	n/a
38	MAX	chr2:183988416-183989998	HepG2	liver:	n/a	chr2:183989490-183989506
39	GABPA	chr2:183988531-183990085	MCF-7	breast:	n/a	n/a
40	EP300	chr2:183988439-183990042	K562	blood:	n/a	chr2:183989683-183989697 chr2:183989074-183989081
41	CBX3	chr2:183988322-183989979	K562	blood:	n/a	chr2:183988684-183988695
42	BHLHE40	chr2:183988338-183990089	K562	blood:	n/a	n/a
43	SETDB1	chr2:183988589-183989390	U2OS	brain:	n/a	n/a
44	MAX	chr2:183988558-183990076	HCT-116	colon:	n/a	chr2:183989490-183989506
45	CCNT2	chr2:183988425-183988645	K562	blood:	n/a	n/a
46	MYC	chr2:183988366-183990224	K562	blood:	n/a	chr2:183989490-183989506
47	JUND	chr2:183988434-183990053	K562	blood:	n/a	n/a
48	MAX	chr2:183988318-183990009	MCF-7	breast:	n/a	chr2:183989490-183989506
49	EP300	chr2:183988569-183989969	GM12878	blood:	n/a	chr2:183989683-183989697 chr2:183989074-183989081
50	POLR2A	chr2:183988418-183989882	GM18505	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:182755789..182757861-chr2:183988319..183990505,2	K562	blood:
2	chr2:183900414..183906188-chr2:183987961..183990917,10	MCF-7	breast:
3	chr2:183941058..183944169-chr2:183988077..183990587,3	MCF-7	breast:
4	chr2:183977949..183985615-chr2:183986503..183991971,13	K562	blood:
5	chr2:183895298..183904606-chr2:183986062..183992067,16	K562	blood:
6	chr2:183981717..183985228-chr2:183986533..183989454,4	MCF-7	breast:
7	chr2:183897885..183903273-chr2:183986817..183992325,13	K562	blood:
8	chr17:7475914..7477152-chr2:183988526..183989842,3	Hela-S3	cervix:
9	chr2:183902160..183905711-chr2:183988105..183989833,3	MCF-7	breast:

Variant related genes	Relation type
NUP35	TF binding region
ENSG00000161960	Chromatin interaction
ENSG00000138434	Chromatin interaction
ENSG00000163002	Chromatin interaction
ENSG00000162999	Chromatin interaction
ENSG00000260742	Chromatin interaction
ENSG00000061676	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs2705725	1.00[CHD][hapmap]
rs2705726	1.00[CHD][hapmap]
rs2887233	1.00[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009882	chr2:183213152-184171519	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv1005281	chr2:183803173-184093877	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv875485	chr2:183827018-184195265	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv1010799	chr2:183855680-184244721	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv536072	chr2:183855680-184244721	Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv1003519	chr2:183885544-184015868	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	esv2763287	chr2:183939173-184037893	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	esv3356302	chr2:183962495-183989877	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a
9	esv3451815	chr2:183988582-183988785	Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	7 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183987800-183989600	Active TSS	Liver	Liver
2	chr2:183987800-183990200	Active TSS	Psoas Muscle	Psoas
3	chr2:183988000-183989800	Active TSS	Duodenum Smooth Muscle	Duodenum
4	chr2:183988000-183990400	Active TSS	Breast Myoepithelial Primary Cells	Breast
5	chr2:183988200-183988600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr2:183988200-183988600	Flanking Active TSS	Adipose Nuclei	Adipose
7	chr2:183988200-183988600	Flanking Active TSS	Fetal Heart	heart
8	chr2:183988200-183988600	Flanking Active TSS	GM12878-XiMat	blood
9	chr2:183988200-183988600	Flanking Active TSS	HUVEC	blood vessel
10	chr2:183988200-183988600	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
11	chr2:183988200-183988600	Flanking Active TSS	Osteobl	bone
12	chr2:183988200-183988800	Flanking Active TSS	Dnd41	blood
13	chr2:183988200-183988800	Flanking Active TSS	K562	blood
14	chr2:183988200-183989000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr2:183988200-183989600	Active TSS	Brain Cingulate Gyrus	brain
16	chr2:183988200-183989600	Active TSS	Duodenum Mucosa	Duodenum
17	chr2:183988200-183989800	Active TSS	Brain Inferior Temporal Lobe	brain
18	chr2:183988200-183989800	Active TSS	Colon Smooth Muscle	Colon
19	chr2:183988200-183989800	Active TSS	Rectal Mucosa Donor 31	rectum
20	chr2:183988200-183990000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr2:183988200-183990000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr2:183988200-183990000	Active TSS	Brain Anterior Caudate	brain
23	chr2:183988200-183990000	Active TSS	Rectal Smooth Muscle	rectum
24	chr2:183988200-183990000	Active TSS	Skeletal Muscle Male	skeletal muscle
25	chr2:183988200-183990000	Active TSS	NHEK	skin
26	chr2:183988200-183990200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr2:183988200-183990200	Active TSS	Right Atrium	heart
28	chr2:183988200-183990200	Active TSS	Skeletal Muscle Female	skeletal muscle
29	chr2:183988200-183990200	Active TSS	HSMMtube	muscle
30	chr2:183988200-183990400	Active TSS	Muscle Satellite Cultured Cells	--
31	chr2:183988200-183990400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr2:183988200-183990400	Active TSS	Brain Angular Gyrus	brain
33	chr2:183988200-183990400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
34	chr2:183988200-183990400	Active TSS	Fetal Brain Female	brain
35	chr2:183988200-183990400	Active TSS	Fetal Intestine Large	intestine
36	chr2:183988200-183990400	Active TSS	Fetal Stomach	stomach
37	chr2:183988200-183990400	Active TSS	HMEC	breast
38	chr2:183988200-183990400	Active TSS	NH-A	brain
39	chr2:183988200-183990600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr2:183988200-183990600	Active TSS	Ovary	ovary
41	chr2:183988200-183990600	Active TSS	Rectal Mucosa Donor 29	rectum
42	chr2:183988200-183990600	Active TSS	Stomach Smooth Muscle	stomach
43	chr2:183988200-183990600	Active TSS	NHDF-Ad	bronchial
44	chr2:183988200-183990800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr2:183988200-183991000	Active TSS	ES-I3 Cell Line	embryonic stem cell
46	chr2:183988200-183991000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr2:183988400-183988600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr2:183988400-183988600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
49	chr2:183988400-183988600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr2:183988400-183988600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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