Variant report

Variant	rs2539868
Chromosome Location	chr2:210890698-210890699
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	chr2:210890538-210891080	PFSK-1	brain:	n/a	n/a
2	MAFK	chr2:210890676-210890877	HepG2	liver:	n/a	chr2:210890773-210890784 chr2:210890772-210890783 chr2:210890768-210890783 chr2:210890768-210890784 chr2:210890773-210890784 chr2:210890771-210890785
3	MAFF	chr2:210890694-210890906	HepG2	liver:	n/a	chr2:210890767-210890785
4	POLR2A	chr2:210889834-210890994	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr2:210890345-210900284	K562	blood:	n/a	n/a
6	MAFK	chr2:210890660-210890875	HepG2	liver:	n/a	chr2:210890773-210890784 chr2:210890772-210890783 chr2:210890768-210890783 chr2:210890768-210890784 chr2:210890773-210890784 chr2:210890771-210890785

No.	Distal block	Cell Line	Cell type
1	chr2:210885661..210890903-chr2:210891500..210895427,5	K562	blood:
2	chr2:210890573..210892313-chr2:210894008..210896932,2	MCF-7	breast:
3	chr2:210890364..210892703-chr2:211032232..211034302,2	K562	blood:

Variant related genes	Relation type
ENSG00000229127	TF binding region
ENSG00000272807	TF binding region
ENSG00000272807	Chromatin interaction
ENSG00000229127	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1111193	0.91[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1990513	1.00[ASW][hapmap];1.00[LWK][hapmap];0.85[MKK][hapmap];0.91[YRI][hapmap];0.82[AFR][1000 genomes]
rs2080158	1.00[ASW][hapmap];1.00[LWK][hapmap];0.85[MKK][hapmap];0.91[YRI][hapmap]
rs2192323	0.91[YRI][hapmap]
rs2243769	1.00[ASW][hapmap];1.00[LWK][hapmap];0.85[MKK][hapmap];1.00[YRI][hapmap]
rs2539872	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs263677	0.91[YRI][hapmap]
rs2887881	1.00[ASW][hapmap];1.00[LWK][hapmap];0.91[YRI][hapmap];0.82[AFR][1000 genomes]
rs57875655	1.00[AMR][1000 genomes]
rs58282165	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58931716	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73063910	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73063916	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73063929	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73063940	1.00[AMR][1000 genomes]
rs73063945	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7573093	0.84[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431969	chr2:210682494-211074494	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1004426	chr2:210709999-211001680	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	esv1795338	chr2:210758078-211098113	Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:210868000-210920000	Weak transcription	Spleen	Spleen
2	chr2:210868400-210899000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:210869400-210891400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:210871000-210893800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr2:210871200-210893000	Strong transcription	Dnd41	blood
6	chr2:210871200-210893200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr2:210871200-210911400	Weak transcription	Psoas Muscle	Psoas
8	chr2:210871600-210891800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr2:210872400-210893800	Strong transcription	Primary neutrophils fromperipheralblood	blood
10	chr2:210872600-210891400	Strong transcription	Fetal Thymus	thymus
11	chr2:210872600-210907600	Weak transcription	Stomach Mucosa	stomach
12	chr2:210872800-210890800	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr2:210872800-210894200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr2:210873000-210893800	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr2:210873400-210891600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr2:210873600-210891400	Strong transcription	HUES6 Cell Line	embryonic stem cell
17	chr2:210874000-210920800	Weak transcription	Fetal Heart	heart
18	chr2:210874200-210893800	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr2:210874400-210891400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr2:210874600-210890800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr2:210875000-210893200	Strong transcription	Liver	Liver
22	chr2:210875800-210891200	Strong transcription	HSMM	muscle
23	chr2:210875800-210891400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr2:210876000-210891000	Strong transcription	Placenta	Placenta
25	chr2:210877200-210891400	Strong transcription	Adipose Nuclei	Adipose
26	chr2:210878200-210891000	Strong transcription	Skeletal Muscle Female	skeletal muscle
27	chr2:210878600-210890800	Strong transcription	Primary T cells fromperipheralblood	blood
28	chr2:210878600-210891800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr2:210879000-210891200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
30	chr2:210879400-210894200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr2:210879600-210891400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr2:210880200-210896200	Weak transcription	K562	blood
33	chr2:210881800-210890800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr2:210881800-210892800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr2:210881800-210892800	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr2:210881800-210953000	Weak transcription	Gastric	stomach
37	chr2:210882000-210891200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr2:210882400-210911400	Weak transcription	Esophagus	oesophagus
39	chr2:210882400-210914600	Weak transcription	Small Intestine	intestine
40	chr2:210882400-210919400	Weak transcription	Brain Hippocampus Middle	brain
41	chr2:210882400-210922800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr2:210882400-210927800	Weak transcription	Right Ventricle	heart
43	chr2:210882800-210911400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr2:210883000-210920600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr2:210883400-210892800	Weak transcription	Thymus	Thymus
46	chr2:210883400-210911200	Weak transcription	Aorta	Aorta
47	chr2:210883400-210911200	Weak transcription	Pancreas	Pancrea
48	chr2:210883600-210911400	Weak transcription	Lung	lung
49	chr2:210884600-210891400	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr2:210884600-210911000	Weak transcription	Ovary	ovary

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