Variant report

Variant	rs61173747
Chromosome Location	chr2:97528070-97528071
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:73)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:73 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYBL2	chr2:97527677-97528439	HepG2	liver:	n/a	n/a
2	ELF1	chr2:97527755-97528270	HepG2	liver:	n/a	n/a
3	SMC3	chr2:97527851-97528317	HepG2	liver:	n/a	n/a
4	POLR2A	chr2:97527081-97528140	GM12878	blood:	n/a	n/a
5	HNF4A	chr2:97527964-97528352	HepG2	liver:	n/a	chr2:97528120-97528135
6	SP1	chr2:97527712-97528314	HepG2	liver:	n/a	n/a
7	POLR2A	chr2:97527756-97528145	HepG2	liver:	n/a	n/a
8	JUN	chr2:97527867-97528274	HepG2	liver:	n/a	n/a
9	FOSL2	chr2:97527907-97528240	A549	lung:	n/a	n/a
10	HDAC2	chr2:97527732-97528305	HepG2	liver:	n/a	n/a
11	FOXA2	chr2:97527739-97528330	A549	lung:	n/a	n/a
12	CEBPB	chr2:97527982-97528230	HepG2	liver:	n/a	chr2:97528161-97528172
13	YY1	chr2:97527959-97528205	HepG2	liver:	n/a	n/a
14	NR3C1	chr2:97527808-97528249	A549	lung:	n/a	n/a
15	FOXA2	chr2:97527439-97528368	HepG2	liver:	n/a	n/a
16	ZBTB7A	chr2:97527940-97528299	HepG2	liver:	n/a	n/a
17	RXRA	chr2:97527851-97528289	HepG2	liver:	n/a	n/a
18	FOXA1	chr2:97527795-97528349	HepG2	liver:	n/a	n/a
19	REST	chr2:97527991-97528294	HepG2	liver:	n/a	n/a
20	POLR2A	chr2:97527656-97528125	HepG2	liver:	n/a	n/a
21	FOXA1	chr2:97527746-97528442	HepG2	liver:	n/a	n/a
22	RCOR1	chr2:97527725-97528364	HepG2	liver:	n/a	n/a
23	JUND	chr2:97527887-97528225	HepG2	liver:	n/a	n/a
24	TBP	chr2:97527847-97528267	HepG2	liver:	n/a	n/a
25	POLR2A	chr2:97523607-97528252	K562	blood:	n/a	n/a
26	RFX5	chr2:97527857-97528246	HepG2	liver:	n/a	n/a
27	HEY1	chr2:97527858-97528130	HepG2	liver:	n/a	n/a
28	TCF12	chr2:97527797-97528288	A549	lung:	n/a	n/a
29	HNF4G	chr2:97527878-97528285	HepG2	liver:	n/a	n/a
30	CEBPB	chr2:97527805-97528365	HepG2	liver:	n/a	chr2:97528161-97528172
31	MAFK	chr2:97527922-97528275	HepG2	liver:	n/a	n/a
32	NFIC	chr2:97527705-97528326	HepG2	liver:	n/a	n/a
33	EP300	chr2:97527798-97528381	HepG2	liver:	n/a	n/a
34	POLR2A	chr2:97527751-97528087	GM12892	blood:	n/a	n/a
35	POLR2A	chr2:97527716-97528214	HepG2	liver:	n/a	n/a
36	FOXA2	chr2:97527859-97528276	HepG2	liver:	n/a	n/a
37	ELF1	chr2:97527987-97528218	HepG2	liver:	n/a	n/a
38	CEBPB	chr2:97527777-97528361	HepG2	liver:	n/a	chr2:97528161-97528172
39	FOXA2	chr2:97527863-97528257	A549	lung:	n/a	n/a
40	POLR2A	chr2:97526909-97536686	HepG2	liver:	n/a	n/a
41	FOSL2	chr2:97527989-97528183	A549	lung:	n/a	n/a
42	CEBPB	chr2:97527957-97528335	MCF-7	breast:	n/a	chr2:97528161-97528172
43	TEAD4	chr2:97527703-97528444	HepG2	liver:	n/a	n/a
44	POLR2A	chr2:97523498-97528233	K562	blood:	n/a	n/a
45	MAFF	chr2:97527843-97528278	HepG2	liver:	n/a	n/a
46	POLR2A	chr2:97522772-97528073	K562	blood:	n/a	n/a
47	MAFK	chr2:97527855-97528264	HepG2	liver:	n/a	n/a
48	NFIC	chr2:97527786-97528302	HepG2	liver:	n/a	n/a
49	CEBPB	chr2:97527869-97528267	HepG2	liver:	n/a	chr2:97528161-97528172
50	MAX	chr2:97527887-97528291	HepG2	liver:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:97516728..97547486-chr2:97588377..97628331,265	MCF-7	breast:

No data

Variant related genes	Relation type
ANKRD23	TF binding region
ANKRD39	TF binding region
ENSG00000168754	Chromatin interaction
ENSG00000252845	Chromatin interaction

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

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

rs_ID	r²[population]
rs12621558	1.00[AMR][1000 genomes]
rs57666657	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933671	chr2:96739308-97652262	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv1000780	chr2:96740430-97671395	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv535826	chr2:96740430-97671395	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
4	nsv874677	chr2:96756547-97717345	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
5	nsv1001204	chr2:96766559-97728507	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
6	nsv535827	chr2:96766559-97728507	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
7	nsv874680	chr2:97309574-97678319	Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
8	nsv526313	chr2:97333492-97660619	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
9	nsv874681	chr2:97410949-97577343	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
10	nsv874682	chr2:97423626-97567389	Transcr. at gene 5' and 3' Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:97523800-97533000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:97524200-97533400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:97524400-97529600	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr2:97524600-97530600	Weak transcription	Thymus	Thymus
5	chr2:97524600-97532800	Weak transcription	Hela-S3	cervix
6	chr2:97524600-97533400	Genic enhancers	Spleen	Spleen
7	chr2:97524600-97533600	Weak transcription	Psoas Muscle	Psoas
8	chr2:97524800-97529400	Enhancers	Primary hematopoietic stem cells	blood
9	chr2:97524800-97531600	Strong transcription	Esophagus	oesophagus
10	chr2:97525000-97531200	Weak transcription	HUVEC	blood vessel
11	chr2:97525000-97533800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr2:97525200-97531800	Weak transcription	Right Atrium	heart
13	chr2:97525400-97529000	Weak transcription	NHDF-Ad	bronchial
14	chr2:97525400-97533600	Weak transcription	Small Intestine	intestine
15	chr2:97525600-97532400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr2:97525800-97528200	Genic enhancers	Brain Inferior Temporal Lobe	brain
17	chr2:97525800-97530000	Strong transcription	Gastric	stomach
18	chr2:97525800-97530200	Genic enhancers	Brain Anterior Caudate	brain
19	chr2:97525800-97531000	Strong transcription	Muscle Satellite Cultured Cells	--
20	chr2:97525800-97531200	Strong transcription	Pancreas	Pancrea
21	chr2:97525800-97531200	Strong transcription	HSMMtube	muscle
22	chr2:97525800-97532000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr2:97525800-97532000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr2:97525800-97532000	Strong transcription	Osteobl	bone
25	chr2:97525800-97532200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr2:97525800-97532200	Strong transcription	Placenta Amnion	Placenta Amnion
27	chr2:97525800-97532400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr2:97525800-97532600	Strong transcription	H1 Cell Line	embryonic stem cell
29	chr2:97525800-97532600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr2:97525800-97532600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr2:97525800-97532600	Strong transcription	HUES64 Cell Line	embryonic stem cell
32	chr2:97525800-97532600	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr2:97525800-97532600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr2:97525800-97532600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr2:97525800-97532600	Strong transcription	NHEK	skin
36	chr2:97525800-97532800	Strong transcription	HUES48 Cell Line	embryonic stem cell
37	chr2:97525800-97533200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
38	chr2:97525800-97533200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
39	chr2:97525800-97533200	Strong transcription	Aorta	Aorta
40	chr2:97525800-97533400	Strong transcription	H9 Cell Line	embryonic stem cell
41	chr2:97526000-97528200	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr2:97526000-97531400	Strong transcription	Fetal Brain Female	brain
43	chr2:97526000-97531800	Strong transcription	Brain Germinal Matrix	brain
44	chr2:97526000-97532600	Strong transcription	Ovary	ovary
45	chr2:97526000-97532800	Strong transcription	Cortex derived primary cultured neurospheres	brain
46	chr2:97526000-97532800	Genic enhancers	Liver	Liver
47	chr2:97526200-97528200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr2:97526200-97528200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr2:97526200-97530800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr2:97526200-97531000	Strong transcription	NHLF	lung

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