Variant report

Variant	rs2288553
Chromosome Location	chr7:128049701-128049702
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:178)
CpG islands
(count:61)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:178 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ELK1	chr7:128049660-128049833	K562	blood:	n/a	n/a
2	MAZ	chr7:128049624-128050609	Hela-S3	cervix:	n/a	n/a
3	BHLHE40	chr7:128049253-128050704	K562	blood:	n/a	chr7:128049741-128049757
4	TBL1XR1	chr7:128049291-128049976	K562	blood:	n/a	n/a
5	RCOR1	chr7:128049598-128050610	Hela-S3	cervix:	n/a	n/a
6	MAX	chr7:128049613-128050773	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr7:128049541-128050440	PFSK-1	brain:	n/a	n/a
8	RCOR1	chr7:128049322-128050610	K562	blood:	n/a	n/a
9	E2F6	chr7:128049521-128050063	K562	blood:	n/a	chr7:128049581-128049590
10	MXI1	chr7:128049513-128050032	K562	blood:	n/a	n/a
11	MAX	chr7:128049250-128050301	H1-hESC	embryonic stem cell:	n/a	n/a
12	MXI1	chr7:128049623-128050462	GM12878	blood:	n/a	n/a
13	MAX	chr7:128049409-128050844	A549	lung:	n/a	n/a
14	POLR2A	chr7:128049630-128050069	HUVEC	blood vessel:	n/a	n/a
15	MAX	chr7:128049457-128050713	SK-N-SH	brain:	n/a	n/a
16	POLR2A	chr7:128049444-128050347	K562	blood:	n/a	n/a
17	MXI1	chr7:128049164-128050981	IMR90	lung:	n/a	n/a
18	HA-E2F1	chr7:128049410-128051408	MCF-7	breast:	n/a	chr7:128049581-128049590
19	POLR2A	chr7:128049694-128050023	GM12878	blood:	n/a	n/a
20	ZNF263	chr7:128049003-128050762	HEK293-T-REx	kidney:	n/a	n/a
21	POLR2A	chr7:128049673-128050488	MCF-7	breast:	n/a	n/a
22	ZKSCAN1	chr7:128049685-128049884	Hela-S3	cervix:	n/a	n/a
23	MAFK	chr7:128049463-128049897	K562	blood:	n/a	n/a
24	STAT5A	chr7:128049303-128049740	GM12878	blood:	n/a	chr7:128049709-128049721 chr7:128049321-128049333
25	POLR2A	chr7:128049534-128050449	HUVEC	blood vessel:	n/a	n/a
26	MYC	chr7:128048126-128050706	NB4	blood:	n/a	n/a
27	MAX	chr7:128049492-128050879	MCF-7	breast:	n/a	n/a
28	CREB1	chr7:128049590-128050547	A549	lung:	n/a	n/a
29	POLR2A	chr7:128049609-128050354	MCF10A-Er-Src	breast:	n/a	n/a
30	YY1	chr7:128049655-128050379	HepG2	liver:	n/a	chr7:128050110-128050124 chr7:128049763-128049777
31	RFX5	chr7:128049695-128050717	Hela-S3	cervix:	n/a	n/a
32	MAX	chr7:128049409-128049919	GM12878	blood:	n/a	n/a
33	POLR2A	chr7:128049546-128050640	HCT-116	colon:	n/a	n/a
34	E2F6	chr7:128049300-128049992	A549	lung:	n/a	chr7:128049581-128049590
35	UBTF	chr7:128049529-128050631	K562	blood:	n/a	n/a
36	PAX5	chr7:128049543-128050039	GM12892	blood:	n/a	n/a
37	POLR2A	chr7:128049439-128050615	K562	blood:	n/a	n/a
38	TAF1	chr7:128049654-128050479	SK-N-SH	brain:	n/a	n/a
39	TFAP2C	chr7:128049611-128050919	Hela-S3	cervix:	n/a	n/a
40	YY1	chr7:128049582-128050042	K562	blood:	n/a	chr7:128049763-128049777
41	PML	chr7:128049589-128050456	GM12878	blood:	n/a	n/a
42	STAT3	chr7:128049371-128049781	MCF10A-Er-Src	breast:	n/a	chr7:128049709-128049721
43	EGR1	chr7:128049538-128050287	K562	blood:	n/a	chr7:128049715-128049728 chr7:128049716-128049726 chr7:128049750-128049760
44	STAT3	chr7:128049423-128049888	MCF10A-Er-Src	breast:	n/a	chr7:128049709-128049721
45	YY1	chr7:128049589-128050079	SK-N-SH_RA	brain:	n/a	chr7:128049763-128049777
46	POLR2A	chr7:128049591-128050534	U87	brain:	n/a	n/a
47	POLR2A	chr7:128048822-128050596	Hela-S3	cervix:	n/a	n/a
48	MAZ	chr7:128049635-128050456	GM12878	blood:	n/a	n/a
49	CTCF	chr7:128049631-128050196	K562	blood:	n/a	n/a
50	CCNT2	chr7:128049131-128050582	K562	blood:	n/a	chr7:128049714-128049723

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:128049684-128049734	PFSK-1	brain:	n/a
2	chr7:128049684-128049734	ovcar-3	ovarian:	n/a
3	chr7:128049684-128049734	GM12878	blood:	n/a
4	chr7:128049684-128049734	Hepatocyte	liver:	n/a
5	chr7:128049684-128049734	NHDF-neo	bronchial:	n/a
6	chr7:128049684-128049734	MCF10A-Er-Src	breast:	n/a
7	chr7:128049684-128049734	LNCaP	prostate:	n/a
8	chr7:128049684-128049734	CMK	blood:	n/a
9	chr7:128049684-128049734	PrEC	prostate:	n/a
10	chr7:128049684-128049734	AG10803	skin:	n/a
11	chr7:128049684-128049734	HIPEpiC	eye:	n/a
12	chr7:128049684-128049734	GM12891	blood:	n/a
13	chr7:128049684-128049734	SAEC	small airway:	n/a
14	chr7:128049684-128049734	HUVEC	blood vessel:	n/a
15	chr7:128049684-128049734	HL-60	blood:	n/a
16	chr7:128049684-128049734	HCM	heart:	n/a
17	chr7:128049684-128049734	NB4	blood:	n/a
18	chr7:128049684-128049734	T-47D	breast:	n/a
19	chr7:128049684-128049734	U87	brain:	n/a
20	chr7:128049684-128049734	ProgFib	skin:	n/a
21	chr7:128049684-128049734	A549	lung:	n/a
22	chr7:128049684-128049734	HNPCEpiC	eye:	n/a
23	chr7:128049684-128049734	SK-N-SH_RA	brain:	n/a
24	chr7:128049684-128049734	GM19239	blood:	n/a
25	chr7:128049684-128049734	AG04450	lung:	fetal
26	chr7:128049684-128049734	AG09319	gingival:	n/a
27	chr7:128049684-128049734	MCF-7	breast:	n/a
28	chr7:128049684-128049734	HRE	kidney:	n/a
29	chr7:128049684-128049734	HMEC	breast:	n/a
30	chr7:128049684-128049734	HepG2	liver:	n/a
31	chr7:128049684-128049734	HCPEpiC	choroid plexus:	n/a
32	chr7:128049684-128049734	HCF	heart:	n/a
33	chr7:128049684-128049734	RPTEC	kidney:	n/a
34	chr7:128049684-128049734	AG04449	skin:	fetal
35	chr7:128049684-128049734	HRPEpiC	eye:	n/a
36	chr7:128049684-128049734	AG09309	skin:	n/a
37	chr7:128049684-128049734	SK-N-MC	brain:	n/a
38	chr7:128049684-128049734	NT2-D1	testis:	n/a
39	chr7:128049684-128049734	ECC-1	luminal epithelium:	n/a
40	chr7:128049684-128049734	GM06990	blood:	n/a
41	chr7:128049684-128049734	HAEpiC	amniotic membrane:	n/a
42	chr7:128049684-128049734	K562	blood:	n/a
43	chr7:128049684-128049734	HEK293	kidney:	embryo
44	chr7:128049684-128049734	Jurkat	blood:	n/a
45	chr7:128049684-128049734	SK-N-SH	brain:	n/a
46	chr7:128049684-128049734	BE2_C	brain:	n/a
47	chr7:128049684-128049734	Hela-S3	cervix:	n/a
48	chr7:128049684-128049734	PANC-1	pancreas:	n/a
49	chr7:128049684-128049734	Caco-2	colon:	n/a
50	chr7:128049684-128049734	HCT-116	colon:	n/a

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:128048546..128051424-chr8:143807465..143809769,2	MCF-7	breast:
2	chr7:128048293..128050679-chr7:128502108..128504312,2	MCF-7	breast:
3	chr7:127982196..127985036-chr7:128048348..128051893,5	MCF-7	breast:
4	chr7:128047161..128050572-chr7:128094387..128098790,7	K562	blood:
5	chr14:75744685..75745607-chr7:128049607..128050213,2	Hela-S3	cervix:
6	chr7:128049014..128051472-chr7:128115731..128117859,3	K562	blood:
7	chr7:128047282..128051646-chr7:128071407..128074955,4	MCF-7	breast:
8	chr7:128049232..128052115-chr7:128095566..128097196,2	MCF-7	breast:
9	chr11:18034017..18034785-chr7:128049172..128050147,2	NB4	blood:
10	chr7:128047161..128050830-chr7:128093884..128097132,5	K562	blood:

No data

Variant related genes	Relation type
IMPDH1	TF binding region
IMPDH1	CpG island
ENSG00000240758	Chromatin interaction
ENSG00000273184	Chromatin interaction
ENSG00000135245	Chromatin interaction
ENSG00000106344	Chromatin interaction
ENSG00000228700	Chromatin interaction
ENSG00000129158	Chromatin interaction
ENSG00000165055	Chromatin interaction
ENSG00000128524	Chromatin interaction
ENSG00000130193	Chromatin interaction
ENSG00000170345	Chromatin interaction
ENSG00000253741	Chromatin interaction
ENSG00000242902	Chromatin interaction
ENSG00000238750	Chromatin interaction
ENSG00000253806	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1014506	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1056633	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes]
rs17152072	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1864233	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28364722	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4236626	0.86[EUR][1000 genomes]
rs4552841	0.88[AMR][1000 genomes]
rs4728109	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4731447	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4731456	0.86[AMR][1000 genomes]
rs4731457	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes]
rs4731458	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes]
rs4731470	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs4731471	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs5018787	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs56734454	0.80[AMR][1000 genomes]
rs57271522	1.00[AFR][1000 genomes]
rs61192768	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes]
rs61556684	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes]
rs6952886	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72624969	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831124	chr7:127970345-128147910	Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
2	nsv889191	chr7:127973133-128073326	Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	esv2493565	chr7:127985695-128053377	Weak transcription Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
4	esv3478325	chr7:127986726-128053483	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	esv3478326	chr7:127986726-128053483	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv515737	chr7:128044035-128050417	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 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	chr7:128047800-128050400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr7:128047800-128051000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr7:128048000-128049800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
4	chr7:128048000-128049800	Flanking Active TSS	Stomach Smooth Muscle	stomach
5	chr7:128048200-128049800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr7:128048200-128050000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr7:128048400-128050800	Active TSS	Duodenum Smooth Muscle	Duodenum
8	chr7:128048600-128049800	Enhancers	Fetal Heart	heart
9	chr7:128048800-128049800	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr7:128048800-128049800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
11	chr7:128048800-128049800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
12	chr7:128048800-128049800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr7:128048800-128049800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr7:128048800-128049800	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
15	chr7:128048800-128049800	Flanking Active TSS	K562	blood
16	chr7:128049000-128049800	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
17	chr7:128049000-128049800	Flanking Active TSS	Primary T cells from cord blood	blood
18	chr7:128049000-128049800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
19	chr7:128049000-128049800	Flanking Bivalent TSS/Enh	Dnd41	blood
20	chr7:128049000-128049800	Flanking Bivalent TSS/Enh	GM12878-XiMat	blood
21	chr7:128049000-128051000	Flanking Active TSS	Primary hematopoietic stem cells	blood
22	chr7:128049200-128049800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
23	chr7:128049200-128049800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
24	chr7:128049200-128049800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
25	chr7:128049200-128049800	Flanking Active TSS	Colonic Mucosa	Colon
26	chr7:128049200-128049800	Flanking Active TSS	Pancreas	Pancrea
27	chr7:128049200-128049800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
28	chr7:128049200-128049800	Flanking Active TSS	HMEC	breast
29	chr7:128049200-128049800	Flanking Active TSS	HUVEC	blood vessel
30	chr7:128049200-128049800	Flanking Active TSS	NH-A	brain
31	chr7:128049200-128050400	Active TSS	Primary monocytes fromperipheralblood	blood
32	chr7:128049200-128050400	Bivalent/Poised TSS	Fetal Brain Female	brain
33	chr7:128049200-128050400	Active TSS	Monocytes-CD14+_RO01746	blood
34	chr7:128049200-128050600	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr7:128049200-128050600	Active TSS	Brain Cingulate Gyrus	brain
36	chr7:128049200-128050600	Active TSS	Left Ventricle	heart
37	chr7:128049200-128050800	Bivalent/Poised TSS	Thymus	Thymus
38	chr7:128049400-128049800	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr7:128049400-128049800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr7:128049400-128049800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
41	chr7:128049400-128049800	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
42	chr7:128049400-128050200	Transcr. at gene 5' and 3'	Right Atrium	heart
43	chr7:128049400-128050400	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr7:128049400-128050600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
45	chr7:128049400-128050600	Active TSS	Colon Smooth Muscle	Colon
46	chr7:128049400-128050600	Active TSS	Gastric	stomach
47	chr7:128049400-128050600	Active TSS	Rectal Smooth Muscle	rectum
48	chr7:128049400-128050600	Active TSS	Small Intestine	intestine
49	chr7:128049400-128050800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
50	chr7:128049400-128050800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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