Variant report

Variant	rs4771997
Chromosome Location	chr13:98082093-98082094
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	chr13:98081758-98082510	U87	brain:	n/a	n/a
2	EP300	chr13:98081746-98082187	K562	blood:	n/a	n/a
3	POLR2A	chr13:98081686-98082647	U87	brain:	n/a	n/a
4	CEBPB	chr13:98081840-98082135	K562	blood:	n/a	chr13:98081990-98082001
5	USF1	chr13:98081969-98082290	K562	blood:	n/a	n/a
6	CEBPB	chr13:98081808-98082195	IMR90	lung:	n/a	chr13:98081990-98082001
7	STAT3	chr13:98081909-98082105	MCF10A-Er-Src	breast:	n/a	n/a
8	MAX	chr13:98081700-98082740	NB4	blood:	n/a	n/a
9	POLR2A	chr13:98082021-98082171	ProgFib	skin:	n/a	n/a
10	BHLHE40	chr13:98081971-98082315	K562	blood:	n/a	n/a
11	USF1	chr13:98082019-98082265	SK-N-SH_RA	brain:	n/a	n/a
12	POLR2A	chr13:98081717-98082566	U87	brain:	n/a	n/a
13	CEBPB	chr13:98081818-98082167	K562	blood:	n/a	chr13:98081990-98082001
14	USF1	chr13:98082038-98082329	SK-N-SH_RA	brain:	n/a	n/a
15	BHLHE40	chr13:98082020-98082280	HepG2	liver:	n/a	n/a
16	USF1	chr13:98081969-98082370	SK-N-SH	brain:	n/a	n/a
17	CEBPB	chr13:98081819-98082180	HepG2	liver:	n/a	chr13:98081990-98082001
18	CEBPB	chr13:98081808-98082253	Hela-S3	cervix:	n/a	chr13:98081990-98082001
19	CEBPB	chr13:98081826-98082176	A549	lung:	n/a	chr13:98081990-98082001
20	RCOR1	chr13:98081836-98082190	K562	blood:	n/a	n/a
21	USF2	chr13:98082013-98082290	Hela-S3	cervix:	n/a	chr13:98082176-98082187
22	KAP1	chr13:98081851-98082186	U2OS	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:98080619..98083140-chr13:98084232..98086579,3	K562	blood:
2	chr13:98081401..98083229-chr13:98085571..98087258,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OXGR1-6	chr13:98081597-98086236	NONHSAT034832

Variant related genes	Relation type
RAP2A	TF binding region
ENSG00000125249	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs1328657	1.00[LWK][hapmap];0.90[MKK][hapmap]
rs9513244	0.81[CEU][hapmap];1.00[CHB][hapmap];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832694	chr13:97930561-98137882	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	esv1791802	chr13:98076911-98096882	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	esv1804050	chr13:98076911-98096882	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	esv1794802	chr13:98076911-98106042	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	esv1797132	chr13:98076911-98106042	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:98076400-98084800	Weak transcription	Esophagus	oesophagus
2	chr13:98079400-98084200	Weak transcription	Liver	Liver
3	chr13:98080400-98084400	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr13:98081000-98083800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr13:98081000-98084000	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr13:98081200-98082800	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr13:98081200-98083600	Enhancers	Dnd41	blood
8	chr13:98081600-98082400	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr13:98081600-98082400	Flanking Active TSS	Brain Germinal Matrix	brain
10	chr13:98081600-98082600	Active TSS	Brain Angular Gyrus	brain
11	chr13:98081600-98082600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
12	chr13:98081800-98082200	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr13:98081800-98082200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr13:98081800-98082200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr13:98081800-98082200	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr13:98081800-98082200	Enhancers	Primary neutrophils fromperipheralblood	blood
17	chr13:98081800-98082200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr13:98081800-98082200	Enhancers	Adipose Nuclei	Adipose
19	chr13:98081800-98082200	Enhancers	Aorta	Aorta
20	chr13:98081800-98082200	Flanking Active TSS	Brain Cingulate Gyrus	brain
21	chr13:98081800-98082200	Flanking Active TSS	Brain Hippocampus Middle	brain
22	chr13:98081800-98082200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
23	chr13:98081800-98082200	Active TSS	Colon Smooth Muscle	Colon
24	chr13:98081800-98082200	Active TSS	Duodenum Smooth Muscle	Duodenum
25	chr13:98081800-98082200	Flanking Active TSS	Fetal Brain Male	brain
26	chr13:98081800-98082200	Flanking Active TSS	Fetal Muscle Leg	muscle
27	chr13:98081800-98082200	Enhancers	Hela-S3	cervix
28	chr13:98081800-98082200	Flanking Active TSS	HSMMtube	muscle
29	chr13:98081800-98082200	Enhancers	K562	blood
30	chr13:98081800-98082200	Flanking Active TSS	NHLF	lung
31	chr13:98081800-98082400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr13:98081800-98082400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr13:98081800-98082400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr13:98081800-98082400	Flanking Active TSS	Fetal Kidney	kidney
35	chr13:98081800-98082400	Active TSS	Fetal Muscle Trunk	muscle
36	chr13:98081800-98082400	Flanking Active TSS	Fetal Stomach	stomach
37	chr13:98081800-98082400	Active TSS	Rectal Mucosa Donor 29	rectum
38	chr13:98081800-98082400	Active TSS	Rectal Smooth Muscle	rectum
39	chr13:98081800-98082400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
40	chr13:98081800-98082400	Active TSS	Stomach Smooth Muscle	stomach
41	chr13:98081800-98082400	Enhancers	HepG2	liver
42	chr13:98081800-98082400	Flanking Active TSS	HSMM	muscle
43	chr13:98081800-98082400	Flanking Active TSS	NH-A	brain
44	chr13:98081800-98082400	Flanking Active TSS	Osteobl	bone
45	chr13:98081800-98082600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr13:98081800-98082600	Active TSS	Fetal Brain Female	brain
47	chr13:98081800-98082800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
48	chr13:98081800-98082800	Flanking Active TSS	Fetal Lung	lung
49	chr13:98081800-98082800	Flanking Active TSS	NHDF-Ad	bronchial
50	chr13:98081800-98084200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived

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