Variant report

Variant	rs2280339
Chromosome Location	chr1:221876222-221876223
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:221874687..221876447-chr1:221884456..221887339,2	MCF-7	breast:
2	chr1:221873819..221876307-chr1:221914439..221917004,2	K562	blood:

Variant related genes	Relation type
ENSG00000143507	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10746413	0.81[CEU][hapmap];0.82[YRI][hapmap];0.84[EUR][1000 genomes]
rs1519463	0.83[CHD][hapmap]
rs7552380	0.82[EUR][1000 genomes]
rs908857	0.80[CHD][hapmap]
rs908858	0.81[CEU][hapmap];0.87[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	nsv469786	chr1:221855871-222040335	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv482867	chr1:221855871-222040335	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1002463	chr1:221863355-222095773	Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv535302	chr1:221863355-222095773	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221862400-221878600	Weak transcription	Primary T cells from cord blood	blood
2	chr1:221863800-221888600	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr1:221869800-221877600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr1:221869800-221878800	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr1:221870000-221878800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr1:221870000-221879000	Weak transcription	Placenta	Placenta
7	chr1:221870000-221885400	Weak transcription	NHEK	skin
8	chr1:221870400-221878800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr1:221870600-221880600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr1:221870800-221878800	Weak transcription	Dnd41	blood
11	chr1:221871200-221885800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr1:221871400-221880800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr1:221871800-221878800	Weak transcription	Stomach Smooth Muscle	stomach
14	chr1:221872000-221876800	Weak transcription	Fetal Thymus	thymus
15	chr1:221872000-221878800	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr1:221872000-221880000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr1:221872000-221880000	Strong transcription	Muscle Satellite Cultured Cells	--
18	chr1:221872000-221880000	Weak transcription	K562	blood
19	chr1:221872200-221878600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr1:221872200-221879000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr1:221872200-221879200	Weak transcription	Brain Angular Gyrus	brain
22	chr1:221872200-221879600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr1:221872200-221879600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr1:221872200-221879600	Weak transcription	Right Atrium	heart
25	chr1:221872200-221880000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr1:221872200-221882400	Weak transcription	Psoas Muscle	Psoas
27	chr1:221872400-221876800	Weak transcription	Brain Cingulate Gyrus	brain
28	chr1:221872400-221880000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr1:221872800-221880000	Strong transcription	Fetal Muscle Leg	muscle
30	chr1:221872800-221881200	Strong transcription	HMEC	breast
31	chr1:221873000-221878800	Weak transcription	Fetal Lung	lung
32	chr1:221873000-221881600	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr1:221873000-221882600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr1:221873200-221885200	Weak transcription	NH-A	brain
35	chr1:221873600-221877200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr1:221873800-221882600	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr1:221873800-221882600	Weak transcription	Small Intestine	intestine
38	chr1:221873800-221885200	Weak transcription	Hela-S3	cervix
39	chr1:221874000-221877200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr1:221874000-221877800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr1:221874000-221879000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr1:221874000-221879800	Strong transcription	Fetal Muscle Trunk	muscle
43	chr1:221874000-221880200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr1:221874000-221880600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr1:221874200-221880000	Strong transcription	HSMM	muscle
46	chr1:221874200-221880200	Weak transcription	Duodenum Mucosa	Duodenum
47	chr1:221874200-221881200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr1:221874200-221882600	Weak transcription	Fetal Intestine Small	intestine
49	chr1:221874400-221876800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr1:221874400-221877000	Strong transcription	HSMMtube	muscle

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