Variant report

Variant	rs10185786
Chromosome Location	chr2:205409412-205409413
allele	A/C
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	NR2F2	chr2:205409361-205410782	MCF-7	breast:	n/a	chr2:205409639-205409654
2	TFAP2C	chr2:205409334-205410758	Hela-S3	cervix:	n/a	chr2:205410583-205410598 chr2:205409789-205409804
3	KAP1	chr2:205409352-205410187	HEK293	kidney:	n/a	n/a
4	HA-E2F1	chr2:205409291-205411382	MCF-7	breast:	n/a	chr2:205410532-205410544 chr2:205410300-205410310 chr2:205410216-205410226
5	SIN3AK20	chr2:205409249-205410285	MCF-7	breast:	n/a	n/a
6	TFAP2A	chr2:205409247-205410554	Hela-S3	cervix:	n/a	chr2:205409792-205409804 chr2:205410104-205410116 chr2:205409792-205409804 chr2:205410304-205410319 chr2:205409789-205409804 chr2:205409792-205409804 chr2:205409792-205409804
7	NR2F2	chr2:205409289-205410008	MCF-7	breast:	n/a	chr2:205409639-205409654
8	GATA3	chr2:205409367-205410265	MCF-7	breast:	n/a	n/a
9	MXI1	chr2:205408554-205412138	IMR90	lung:	n/a	chr2:205410553-205410562
10	GATA3	chr2:205409339-205410160	MCF-7	breast:	n/a	n/a
11	E2F6	chr2:205409340-205411212	H1-hESC	embryonic stem cell:	n/a	chr2:205410532-205410544 chr2:205410300-205410310 chr2:205410216-205410226 chr2:205410041-205410052

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:205406485..205408306-chr2:205408736..205410499,2	K562	blood:
2	chr2:205396469..205398520-chr2:205407937..205409704,2	MCF-7	breast:

Variant related genes	Relation type
PARD3B	TF binding region

Extended variants
information (count: 21 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10190012	0.87[ASW][hapmap];1.00[MEX][hapmap];0.80[MKK][hapmap];0.80[YRI][hapmap];0.83[AMR][1000 genomes]
rs10203606	1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs10203725	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10932074	1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10932075	1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11899900	0.83[AMR][1000 genomes]
rs11904064	0.80[YRI][hapmap];0.83[AMR][1000 genomes]
rs13393438	1.00[EUR][1000 genomes]
rs13414039	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs13418573	0.94[ASW][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];0.96[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13428250	0.83[AMR][1000 genomes]
rs4645000	0.91[AMR][1000 genomes]
rs56086550	0.83[AMR][1000 genomes]
rs6749339	0.92[YRI][hapmap];0.83[AMR][1000 genomes]
rs73057234	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73057258	0.83[AMR][1000 genomes]
rs7565043	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv964353	chr2:205303005-205473935	Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv998485	chr2:205407813-206184006	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv536122	chr2:205407813-206184006	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	esv3422948	chr2:205409232-205412080	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:205397600-205409600	Weak transcription	Pancreas	Pancrea
2	chr2:205403400-205409600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:205403800-205409600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr2:205409200-205409600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
5	chr2:205409200-205409600	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr2:205409200-205409600	Bivalent Enhancer	Primary hematopoietic stem cells	blood
7	chr2:205409200-205409600	Flanking Active TSS	Brain Anterior Caudate	brain
8	chr2:205409200-205409600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
9	chr2:205409200-205409600	Flanking Active TSS	Fetal Intestine Large	intestine
10	chr2:205409200-205409600	Flanking Active TSS	Fetal Intestine Small	intestine
11	chr2:205409200-205409600	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr2:205409200-205409600	Enhancers	Placenta	Placenta
13	chr2:205409200-205409600	Enhancers	Left Ventricle	heart
14	chr2:205409200-205409800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
15	chr2:205409200-205409800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
16	chr2:205409200-205409800	Bivalent Enhancer	Fetal Thymus	thymus
17	chr2:205409200-205410000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
18	chr2:205409200-205410000	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
19	chr2:205409200-205410000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
20	chr2:205409200-205410000	Flanking Active TSS	Adipose Nuclei	Adipose
21	chr2:205409200-205410000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
22	chr2:205409200-205410000	Flanking Active TSS	Stomach Smooth Muscle	stomach
23	chr2:205409200-205410800	Active TSS	Skeletal Muscle Female	skeletal muscle
24	chr2:205409200-205411000	Active TSS	Brain Substantia Nigra	brain
25	chr2:205409200-205411400	Active TSS	Colonic Mucosa	Colon
26	chr2:205409400-205409600	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
27	chr2:205409400-205409600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr2:205409400-205409600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr2:205409400-205409600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr2:205409400-205409600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr2:205409400-205409600	Bivalent/Poised TSS	Primary T regulatory cells fromperipheralblood	blood
32	chr2:205409400-205409600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
33	chr2:205409400-205409600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr2:205409400-205409600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr2:205409400-205409600	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr2:205409400-205409600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr2:205409400-205409600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr2:205409400-205409600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr2:205409400-205409600	Flanking Active TSS	Aorta	Aorta
40	chr2:205409400-205409600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
41	chr2:205409400-205409600	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
42	chr2:205409400-205409600	Bivalent/Poised TSS	Fetal Brain Male	brain
43	chr2:205409400-205409600	Bivalent Enhancer	Fetal Brain Female	brain
44	chr2:205409400-205409600	Flanking Active TSS	Fetal Kidney	kidney
45	chr2:205409400-205409600	Active TSS	Fetal Muscle Trunk	muscle
46	chr2:205409400-205409600	Enhancers	Fetal Stomach	stomach
47	chr2:205409400-205409600	Enhancers	Placenta Amnion	Placenta Amnion
48	chr2:205409400-205409600	Flanking Active TSS	Right Ventricle	heart
49	chr2:205409400-205409600	Flanking Active TSS	A549	lung
50	chr2:205409400-205409600	Enhancers	HMEC	breast

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