Variant report

Variant	rs3788331
Chromosome Location	chr22:22059293-22059294
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	chr22:22056555..22059346-chr22:22088717..22090824,2	MCF-7	breast:
2	chr22:22055612..22059819-chr22:22080444..22082478,4	K562	blood:

Variant related genes	Relation type
ENSG00000100027	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12484060	0.95[ASN][1000 genomes]
rs2236643	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35122624	0.94[ASN][1000 genomes]
rs370039	0.80[ASN][1000 genomes]
rs396913	0.80[ASN][1000 genomes]
rs436496	0.80[ASN][1000 genomes]
rs452614	0.80[ASN][1000 genomes]
rs5999098	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv914458	chr22:21747678-22070489	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	387 gene(s)	inside rSNPs	diseases
2	esv1823866	chr22:21928916-22131125	Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	374 gene(s)	inside rSNPs	diseases
3	nsv948603	chr22:21928916-22601814	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	422 gene(s)	inside rSNPs	diseases
4	nsv948902	chr22:21928916-22657900	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	426 gene(s)	inside rSNPs	diseases
5	nsv1063962	chr22:21939722-22934593	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	477 gene(s)	inside rSNPs	diseases
6	nsv1058617	chr22:21939922-22934454	Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	477 gene(s)	inside rSNPs	diseases
7	nsv529694	chr22:21957411-22905068	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	474 gene(s)	inside rSNPs	diseases
8	nsv531797	chr22:21977700-22959729	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	476 gene(s)	inside rSNPs	diseases
9	nsv914468	chr22:21982892-22070489	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	365 gene(s)	inside rSNPs	diseases
10	nsv1066403	chr22:22010822-22352262	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats 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	51 gene(s)	inside rSNPs	diseases
11	nsv510804	chr22:22024531-22132764	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
12	nsv1066964	chr22:22055123-22228745	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
13	nsv544604	chr22:22055123-22228745	Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:22032200-22065200	Strong transcription	Fetal Thymus	thymus
2	chr22:22033400-22065800	Strong transcription	Thymus	Thymus
3	chr22:22034600-22059800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr22:22034600-22065400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr22:22035200-22060000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr22:22044400-22067400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr22:22045800-22060000	Strong transcription	Fetal Brain Female	brain
8	chr22:22045800-22066400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr22:22047400-22060000	Strong transcription	Dnd41	blood
10	chr22:22047400-22060400	Strong transcription	Primary B cells from peripheral blood	blood
11	chr22:22050800-22064000	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr22:22051400-22067400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr22:22051800-22064000	Weak transcription	NHEK	skin
14	chr22:22052000-22070800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr22:22052200-22063400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr22:22052200-22067600	Weak transcription	GM12878-XiMat	blood
17	chr22:22052400-22067400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr22:22052400-22067400	Weak transcription	Fetal Intestine Large	intestine
19	chr22:22053200-22067400	Weak transcription	Colon Smooth Muscle	Colon
20	chr22:22053400-22066000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr22:22053400-22067200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr22:22053400-22067200	Weak transcription	Rectal Smooth Muscle	rectum
23	chr22:22053400-22068200	Weak transcription	Psoas Muscle	Psoas
24	chr22:22053600-22061200	Strong transcription	Fetal Stomach	stomach
25	chr22:22053600-22062000	Weak transcription	HSMM	muscle
26	chr22:22053600-22062000	Weak transcription	Osteobl	bone
27	chr22:22053600-22064000	Weak transcription	Esophagus	oesophagus
28	chr22:22053600-22065600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr22:22053600-22067200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr22:22053600-22067400	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr22:22053600-22067600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr22:22053600-22088800	Weak transcription	Aorta	Aorta
33	chr22:22053800-22062000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr22:22053800-22062000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr22:22053800-22065800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr22:22053800-22067400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr22:22053800-22067600	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr22:22054000-22059800	Strong transcription	Fetal Muscle Leg	muscle
39	chr22:22054200-22067200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr22:22054200-22067200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr22:22054200-22067400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr22:22054200-22067600	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr22:22054200-22067800	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr22:22054600-22066400	Weak transcription	Primary T helper cells fromperipheralblood	blood
45	chr22:22055200-22066600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr22:22055800-22061200	Weak transcription	Monocytes-CD14+_RO01746	blood
47	chr22:22055800-22067400	Weak transcription	NH-A	brain
48	chr22:22056000-22059400	Strong transcription	Cortex derived primary cultured neurospheres	brain
49	chr22:22056000-22060200	Strong transcription	Right Atrium	heart
50	chr22:22056000-22067200	Weak transcription	Rectal Mucosa Donor 31	rectum

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