Variant report

Variant	rs908857
Chromosome Location	chr1:221874684-221874685
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:221866299..221869210-chr1:221870746..221875245,5	K562	blood:
2	chr1:221873819..221876307-chr1:221914439..221917004,2	K562	blood:

Variant related genes	Relation type
ENSG00000143507	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12126069	1.00[ASW][hapmap];0.92[CEU][hapmap];0.95[GIH][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes]
rs12405549	0.88[ASN][1000 genomes]
rs1519463	1.00[ASW][hapmap];0.92[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2280339	0.80[CHD][hapmap]
rs2378455	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7518519	0.87[CHB][hapmap];0.89[CHD][hapmap];0.86[JPT][hapmap];0.87[ASN][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:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221861600-221875600	Weak transcription	Aorta	Aorta
2	chr1:221861800-221875200	Weak transcription	Left Ventricle	heart
3	chr1:221862400-221878600	Weak transcription	Primary T cells from cord blood	blood
4	chr1:221863000-221875000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr1:221863800-221888600	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr1:221869400-221875800	Weak transcription	Rectal Smooth Muscle	rectum
7	chr1:221869800-221877600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr1:221869800-221878800	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr1:221870000-221875200	Weak transcription	Primary B cells from cord blood	blood
10	chr1:221870000-221875200	Weak transcription	NHLF	lung
11	chr1:221870000-221878800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr1:221870000-221879000	Weak transcription	Placenta	Placenta
13	chr1:221870000-221885400	Weak transcription	NHEK	skin
14	chr1:221870200-221875000	Weak transcription	Fetal Intestine Large	intestine
15	chr1:221870200-221875600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr1:221870200-221875800	Weak transcription	Lung	lung
17	chr1:221870400-221875000	Weak transcription	Fetal Stomach	stomach
18	chr1:221870400-221878800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr1:221870600-221880600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr1:221870800-221875600	Enhancers	Liver	Liver
21	chr1:221870800-221878800	Weak transcription	Dnd41	blood
22	chr1:221871000-221875000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr1:221871200-221885800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr1:221871400-221875400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr1:221871400-221880800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr1:221871600-221875000	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr1:221871800-221875000	Weak transcription	Colon Smooth Muscle	Colon
28	chr1:221871800-221875200	Weak transcription	Adipose Nuclei	Adipose
29	chr1:221871800-221878800	Weak transcription	Stomach Smooth Muscle	stomach
30	chr1:221872000-221875000	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr1:221872000-221875200	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr1:221872000-221876800	Weak transcription	Fetal Thymus	thymus
33	chr1:221872000-221878800	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr1:221872000-221880000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr1:221872000-221880000	Strong transcription	Muscle Satellite Cultured Cells	--
36	chr1:221872000-221880000	Weak transcription	K562	blood
37	chr1:221872200-221875000	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr1:221872200-221875200	Weak transcription	Brain Hippocampus Middle	brain
39	chr1:221872200-221878600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr1:221872200-221879000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr1:221872200-221879200	Weak transcription	Brain Angular Gyrus	brain
42	chr1:221872200-221879600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr1:221872200-221879600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr1:221872200-221879600	Weak transcription	Right Atrium	heart
45	chr1:221872200-221880000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr1:221872200-221882400	Weak transcription	Psoas Muscle	Psoas
47	chr1:221872400-221875200	Weak transcription	Primary hematopoietic stem cells	blood
48	chr1:221872400-221875400	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr1:221872400-221876800	Weak transcription	Brain Cingulate Gyrus	brain
50	chr1:221872400-221880000	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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