Variant report

Variant	rs8138165
Chromosome Location	chr22:30167343-30167344
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr22:30165385-30167411	K562	blood:	n/a	n/a
2	POLR2A	chr22:30166393-30167739	HepG2	liver:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:30165546..30168026-chr22:30174999..30177192,2	MCF-7	breast:
2	chr22:30145045..30147687-chr22:30166151..30168873,2	MCF-7	breast:
3	chr22:30165843..30167692-chr22:30176073..30180493,3	MCF-7	breast:
4	chr22:30160959..30163738-chr22:30164422..30168687,4	MCF-7	breast:
5	chr22:30117740..30119771-chr22:30165612..30167453,2	MCF-7	breast:

No data

Variant related genes	Relation type
ZMAT5	TF binding region
ENSG00000100319	Chromatin interaction
ENSG00000184076	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs12158466	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12159277	0.93[AFR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12159536	0.82[EUR][1000 genomes]
rs12163073	0.82[EUR][1000 genomes]
rs12627866	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12628028	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12628234	0.86[AFR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12628545	0.81[AFR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs14115	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16987142	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16988049	0.91[AFR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17711461	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17711508	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2018808	0.84[AFR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2240364	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2240365	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2240366	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs249399	0.81[ASN][1000 genomes]
rs249402	0.81[ASN][1000 genomes]
rs28730892	0.94[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs57122143	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs58015017	0.88[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs59394320	0.84[EUR][1000 genomes]
rs5997515	0.82[EUR][1000 genomes]
rs5997518	0.95[EUR][1000 genomes]
rs5997519	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5997520	0.95[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs5997524	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6006234	0.82[EUR][1000 genomes]
rs6006235	0.82[EUR][1000 genomes]
rs6006238	0.82[EUR][1000 genomes]
rs6006239	0.82[EUR][1000 genomes]
rs6006241	0.95[EUR][1000 genomes]
rs6006242	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6006247	0.84[AFR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6006249	0.96[AFR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6006250	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6006262	0.95[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs60805530	0.90[EUR][1000 genomes]
rs61616383	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7285660	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7285800	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7287777	0.86[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs7289250	0.80[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs7290420	0.82[EUR][1000 genomes]
rs73392899	0.80[AFR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73394814	0.91[AFR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73394831	0.89[AFR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73394838	0.86[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs737721	0.92[ASN][1000 genomes]
rs737728	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs740116	0.93[AFR][1000 genomes];0.92[EUR][1000 genomes];0.85[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	nsv529742	chr22:29677909-30274388	Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1064081	chr22:29826745-30623965	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv544677	chr22:29826745-30623965	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	nsv817987	chr22:30163526-30169436	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30164400-30167400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr22:30164600-30171000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr22:30164600-30183800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr22:30164600-30185000	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr22:30164600-30188600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr22:30164800-30167400	Strong transcription	Fetal Thymus	thymus
7	chr22:30164800-30167600	Strong transcription	Primary T cells fromperipheralblood	blood
8	chr22:30165000-30167400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr22:30165000-30167400	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr22:30165000-30167400	Strong transcription	Osteobl	bone
11	chr22:30165000-30172400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr22:30165200-30167400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
13	chr22:30165200-30167400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr22:30165200-30167400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr22:30165200-30167400	Strong transcription	Rectal Mucosa Donor 29	rectum
16	chr22:30165200-30167800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr22:30165200-30168400	Weak transcription	NHDF-Ad	bronchial
18	chr22:30165200-30168800	Strong transcription	Fetal Stomach	stomach
19	chr22:30165400-30167400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr22:30165400-30167400	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr22:30165400-30167400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr22:30165400-30167400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr22:30165400-30167400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr22:30165400-30167400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr22:30165400-30167400	Strong transcription	Duodenum Smooth Muscle	Duodenum
26	chr22:30165400-30167400	Strong transcription	Fetal Lung	lung
27	chr22:30165400-30167400	Strong transcription	Placenta	Placenta
28	chr22:30165400-30167400	Strong transcription	Rectal Mucosa Donor 31	rectum
29	chr22:30165400-30167400	Strong transcription	NHLF	lung
30	chr22:30165400-30167600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr22:30165400-30167600	Strong transcription	Duodenum Mucosa	Duodenum
32	chr22:30165400-30167800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr22:30165400-30167800	Strong transcription	Fetal Muscle Trunk	muscle
34	chr22:30165400-30167800	Strong transcription	HUVEC	blood vessel
35	chr22:30165400-30176800	Weak transcription	Fetal Brain Male	brain
36	chr22:30165600-30167400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr22:30165600-30167400	Strong transcription	Primary neutrophils fromperipheralblood	blood
38	chr22:30165600-30167400	Strong transcription	Primary B cells from peripheral blood	blood
39	chr22:30165600-30167400	Strong transcription	Primary T helper naive cells from peripheral blood	blood
40	chr22:30165600-30167400	Strong transcription	Esophagus	oesophagus
41	chr22:30165600-30167400	Strong transcription	Gastric	stomach
42	chr22:30165600-30167400	Strong transcription	Sigmoid Colon	Sigmoid Colon
43	chr22:30165600-30167600	Strong transcription	Brain Anterior Caudate	brain
44	chr22:30165600-30167600	Strong transcription	Colonic Mucosa	Colon
45	chr22:30165600-30167600	Strong transcription	Fetal Muscle Leg	muscle
46	chr22:30165600-30167600	Strong transcription	Monocytes-CD14+_RO01746	blood
47	chr22:30165600-30167800	Strong transcription	Cortex derived primary cultured neurospheres	brain
48	chr22:30165600-30167800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr22:30165600-30167800	Strong transcription	Fetal Intestine Large	intestine
50	chr22:30165600-30167800	Strong transcription	HSMMtube	muscle

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