Variant report

Variant	rs3179442
Chromosome Location	chr22:31043766-31043767
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:31039922..31042444-chr22:31043660..31045429,2	MCF-7	breast:
2	chr22:31042398..31045773-chr22:31056935..31059640,3	K562	blood:
3	chr22:31043628..31045538-chr22:31062741..31064630,2	MCF-7	breast:
4	chr22:31037150..31040336-chr22:31042164..31045603,3	K562	blood:

Variant related genes	Relation type
ENSG00000167065	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs1076301	0.86[CHB][hapmap];0.86[JPT][hapmap];0.97[ASN][1000 genomes]
rs11089468	0.88[ASN][1000 genomes]
rs12159167	0.93[ASN][1000 genomes]
rs13053941	0.82[EUR][1000 genomes]
rs13054505	0.91[EUR][1000 genomes]
rs1544468	0.82[CEU][hapmap];0.88[EUR][1000 genomes]
rs1971653	0.88[ASN][1000 genomes]
rs1981590	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1981591	0.91[CHB][hapmap];0.81[JPT][hapmap];0.97[ASN][1000 genomes]
rs2072194	0.85[ASN][1000 genomes]
rs2078976	0.87[ASN][1000 genomes]
rs2240002	0.86[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs2267163	0.85[CEU][hapmap];0.85[TSI][hapmap]
rs2270013	0.86[CHB][hapmap];0.86[JPT][hapmap];0.85[TSI][hapmap];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3887855	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4353747	0.88[EUR][1000 genomes]
rs4513384	0.97[ASN][1000 genomes]
rs4820023	0.82[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4820891	0.86[CHB][hapmap];0.86[JPT][hapmap];0.83[TSI][hapmap];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5019308	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5749141	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5749142	0.88[EUR][1000 genomes]
rs5749143	0.88[EUR][1000 genomes]
rs5749144	0.88[ASN][1000 genomes]
rs5749145	0.88[EUR][1000 genomes]
rs5749147	0.94[ASN][1000 genomes]
rs5749148	0.89[CEU][hapmap];0.89[EUR][1000 genomes]
rs5749149	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5753250	0.81[ASN][1000 genomes]
rs5753252	0.81[ASN][1000 genomes]
rs5753257	0.88[CEU][hapmap];0.82[TSI][hapmap];0.88[EUR][1000 genomes]
rs5753258	0.85[EUR][1000 genomes]
rs5753259	0.81[CHB][hapmap];0.90[ASN][1000 genomes]
rs5753260	0.85[CEU][hapmap];0.90[EUR][1000 genomes]
rs5753265	0.87[ASN][1000 genomes]
rs5994328	0.86[CHB][hapmap];0.86[JPT][hapmap];0.93[TSI][hapmap];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5997709	0.86[EUR][1000 genomes]
rs5997710	0.88[EUR][1000 genomes]
rs5997711	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5997714	0.96[ASN][1000 genomes]
rs5997715	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs713853	0.86[CHB][hapmap]
rs7289553	0.88[EUR][1000 genomes]
rs731990	0.88[EUR][1000 genomes]
rs731991	0.88[EUR][1000 genomes]
rs734479	0.89[YRI][hapmap]
rs757027	0.90[CHB][hapmap];0.80[JPT][hapmap];0.91[ASN][1000 genomes]
rs8138932	0.81[EUR][1000 genomes]
rs8139950	0.86[CHB][hapmap];0.86[JPT][hapmap];0.88[TSI][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915818	chr22:30708245-31346302	Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
2	nsv834175	chr22:30976624-31089545	Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31032400-31052400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr22:31032800-31046600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr22:31033200-31052000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr22:31033400-31058200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr22:31033600-31058000	Weak transcription	Adipose Nuclei	Adipose
6	chr22:31033600-31058000	Weak transcription	Fetal Lung	lung
7	chr22:31033800-31046600	Weak transcription	Fetal Intestine Small	intestine
8	chr22:31033800-31057600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr22:31034000-31045000	Weak transcription	HUVEC	blood vessel
10	chr22:31034000-31045000	Weak transcription	NHEK	skin
11	chr22:31034000-31045200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr22:31034000-31045400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr22:31034000-31046400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr22:31034000-31049800	Weak transcription	Fetal Brain Female	brain
15	chr22:31034000-31059400	Weak transcription	Aorta	Aorta
16	chr22:31034200-31045600	Weak transcription	Duodenum Mucosa	Duodenum
17	chr22:31034200-31057800	Weak transcription	Colon Smooth Muscle	Colon
18	chr22:31034200-31058800	Weak transcription	Rectal Smooth Muscle	rectum
19	chr22:31037200-31045000	Weak transcription	Colonic Mucosa	Colon
20	chr22:31037200-31045400	Weak transcription	Lung	lung
21	chr22:31039400-31050600	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr22:31039800-31045600	Weak transcription	Fetal Muscle Trunk	muscle
23	chr22:31039800-31046600	Weak transcription	Right Atrium	heart
24	chr22:31040000-31045200	Weak transcription	Esophagus	oesophagus
25	chr22:31040000-31045200	Weak transcription	GM12878-XiMat	blood
26	chr22:31040200-31045000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr22:31040200-31045000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr22:31040200-31045600	Weak transcription	Left Ventricle	heart
29	chr22:31040200-31046400	Weak transcription	Fetal Muscle Leg	muscle
30	chr22:31040200-31046600	Weak transcription	Psoas Muscle	Psoas
31	chr22:31040200-31060800	Weak transcription	Fetal Brain Male	brain
32	chr22:31040400-31044800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr22:31040600-31045000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr22:31040600-31045000	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr22:31040600-31045000	Weak transcription	HSMM	muscle
36	chr22:31040600-31045000	Weak transcription	NH-A	brain
37	chr22:31040600-31045000	Weak transcription	Osteobl	bone
38	chr22:31040600-31055800	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr22:31040800-31044800	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr22:31040800-31044800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr22:31040800-31045000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr22:31040800-31045200	Weak transcription	HSMMtube	muscle
43	chr22:31041000-31045000	Weak transcription	NHDF-Ad	bronchial
44	chr22:31041000-31045200	Weak transcription	NHLF	lung
45	chr22:31041000-31046400	Weak transcription	Brain Anterior Caudate	brain
46	chr22:31041200-31045000	Weak transcription	Brain Angular Gyrus	brain
47	chr22:31041400-31048400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr22:31042000-31044400	Strong transcription	Skeletal Muscle Male	skeletal muscle
49	chr22:31042000-31046400	Weak transcription	Brain Substantia Nigra	brain
50	chr22:31042200-31045000	Weak transcription	K562	blood

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