Variant report

Variant	rs6734838
Chromosome Location	chr2:55843385-55843386
allele	C/G
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	MAFF	chr2:55843316-55843864	K562	blood:	n/a	chr2:55843776-55843794
2	GATA3	chr2:55843382-55843591	SH-SY5Y	brain:	n/a	chr2:55843460-55843471
3	ZNF384	chr2:55842828-55843401	GM12878	blood:	n/a	n/a
4	MAFK	chr2:55843341-55843916	HepG2	liver:	n/a	chr2:55843782-55843793 chr2:55843781-55843792 chr2:55843780-55843794
5	POLR2A	chr2:55843358-55846635	GM12878	blood:	n/a	n/a
6	CHD1	chr2:55843055-55846158	GM12878	blood:	n/a	n/a
7	HCFC1	chr2:55842863-55846662	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr2:55841593-55846281	MCF10A-Er-Src	breast:	n/a	n/a
9	POLR2A	chr2:55842146-55846258	MCF10A-Er-Src	breast:	n/a	n/a
10	TBP	chr2:55843384-55844279	Hela-S3	cervix:	n/a	n/a
11	EGR1	chr2:55842567-55843446	HCT-116	colon:	n/a	chr2:55843032-55843045 chr2:55843036-55843050 chr2:55843039-55843052 chr2:55843039-55843052 chr2:55843040-55843050 chr2:55843039-55843052 chr2:55843031-55843041 chr2:55843040-55843051 chr2:55843038-55843052 chr2:55843037-55843047 chr2:55843038-55843053 chr2:55843039-55843052 chr2:55843040-55843050 chr2:55843039-55843049 chr2:55843040-55843049 chr2:55843034-55843056
12	EGR1	chr2:55842686-55843474	HCT-116	colon:	n/a	chr2:55843032-55843045 chr2:55843036-55843050 chr2:55843039-55843052 chr2:55843039-55843052 chr2:55843040-55843050 chr2:55843039-55843052 chr2:55843031-55843041 chr2:55843040-55843051 chr2:55843038-55843052 chr2:55843037-55843047 chr2:55843038-55843053 chr2:55843039-55843052 chr2:55843040-55843050 chr2:55843039-55843049 chr2:55843040-55843049 chr2:55843034-55843056

No.	Distal block	Cell Line	Cell type
1	chr2:55746181..55748765-chr2:55843177..55845713,3	MCF-7	breast:
2	chr15:52859559..52861665-chr2:55842687..55845255,2	MCF-7	breast:
3	chr2:55843362..55845607-chr2:55918078..55921710,3	K562	blood:
4	chr2:55841795..55844862-chr2:55919047..55922552,3	K562	blood:
5	chr2:55276798..55279791-chr2:55841794..55843892,2	K562	blood:
6	chr2:55643936..55648492-chr2:55843198..55848689,6	K562	blood:
7	chr2:55494631..55497013-chr2:55842868..55845390,2	MCF-7	breast:
8	chr2:55644452..55648722-chr2:55843350..55848689,7	K562	blood:
9	chr2:55458277..55462347-chr2:55843080..55846218,4	K562	blood:
10	chr17:57914014..57916719-chr2:55842770..55844822,2	MCF-7	breast:
11	chr2:55507639..55510296-chr2:55843126..55844712,2	K562	blood:
12	chr2:55459912..55461600-chr2:55842449..55844888,2	K562	blood:

Variant related genes	Relation type
ENSG00000272606	TF binding region
ENSG00000138035	Chromatin interaction
ENSG00000062716	Chromatin interaction
ENSG00000162997	Chromatin interaction
ENSG00000085760	Chromatin interaction
ENSG00000115310	Chromatin interaction
ENSG00000162994	Chromatin interaction
ENSG00000143947	Chromatin interaction
ENSG00000163001	Chromatin interaction
ENSG00000115355	Chromatin interaction
ENSG00000128989	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs17047059	1.00[AMR][1000 genomes]
rs17047079	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17047082	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17047121	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17047126	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61995875	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6736247	1.00[AMR][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	nsv520581	chr2:55622825-55903016	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv531374	chr2:55653723-56299784	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	nsv834080	chr2:55741036-55927928	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	esv2757798	chr2:55747239-55981074	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	esv2759050	chr2:55747239-55981074	Strong transcription Active TSS Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
6	nsv1008452	chr2:55809191-55987274	Strong transcription Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 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	chr2:55789800-55843600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:55828200-55843600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:55830400-55843600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr2:55830400-55843600	Weak transcription	Aorta	Aorta
5	chr2:55836600-55843600	Weak transcription	Small Intestine	intestine
6	chr2:55836800-55843600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr2:55837800-55843400	Weak transcription	Stomach Mucosa	stomach
8	chr2:55839200-55843600	Weak transcription	Esophagus	oesophagus
9	chr2:55840200-55843600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr2:55840200-55843600	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr2:55840200-55843600	Weak transcription	Spleen	Spleen
12	chr2:55840600-55843400	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr2:55841800-55843400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr2:55842400-55843800	Flanking Active TSS	Duodenum Mucosa	Duodenum
15	chr2:55842400-55846200	Active TSS	Breast Myoepithelial Primary Cells	Breast
16	chr2:55842400-55846200	Active TSS	NH-A	brain
17	chr2:55842400-55846400	Active TSS	HSMMtube	muscle
18	chr2:55842400-55846400	Active TSS	NHLF	lung
19	chr2:55842600-55843400	Enhancers	Placenta	Placenta
20	chr2:55842600-55843400	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr2:55842600-55843600	Enhancers	Primary neutrophils fromperipheralblood	blood
22	chr2:55842600-55843600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr2:55842600-55843600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr2:55842600-55846200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr2:55842600-55846200	Active TSS	Pancreatic Islets	Pancreatic Islet
26	chr2:55842600-55846200	Active TSS	A549	lung
27	chr2:55842600-55846200	Active TSS	K562	blood
28	chr2:55842600-55846400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr2:55842600-55846400	Active TSS	HUES48 Cell Line	embryonic stem cell
30	chr2:55842600-55846400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr2:55842600-55846400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr2:55842600-55846400	Active TSS	Pancreas	Pancrea
33	chr2:55842600-55846400	Active TSS	Psoas Muscle	Psoas
34	chr2:55842600-55846800	Active TSS	H1 Cell Line	embryonic stem cell
35	chr2:55842800-55843400	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr2:55842800-55843400	Enhancers	Primary B cells from peripheral blood	blood
37	chr2:55842800-55843400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
38	chr2:55842800-55843400	Enhancers	Thymus	Thymus
39	chr2:55842800-55843600	Active TSS	HepG2	liver
40	chr2:55842800-55843600	Flanking Active TSS	HUVEC	blood vessel
41	chr2:55842800-55843600	Flanking Active TSS	Osteobl	bone
42	chr2:55842800-55843800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
43	chr2:55842800-55843800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
44	chr2:55842800-55843800	Flanking Active TSS	Adipose Nuclei	Adipose
45	chr2:55842800-55844000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
46	chr2:55842800-55844000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr2:55842800-55844200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr2:55842800-55845400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr2:55842800-55846000	Active TSS	Liver	Liver
50	chr2:55842800-55846200	Active TSS	Brain Hippocampus Middle	brain

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