Variant report

Variant	rs6036322
Chromosome Location	chr20:23132935-23132936
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:23129251..23133596-chr20:23289860..23293957,6	K562	blood:
2	chr20:23130457..23132351-chr20:23132417..23135261,2	MCF-7	breast:
3	chr20:23080110..23082822-chr20:23132025..23133564,2	K562	blood:
4	chr20:23027375..23033068-chr20:23127953..23133190,8	K562	blood:
5	chr20:23131411..23133053-chr20:23183792..23185506,2	K562	blood:
6	chr20:23131349..23133053-chr20:23183942..23185506,2	K562	blood:
7	chr20:23092456..23098917-chr20:23127069..23136117,14	K562	blood:
8	chr20:23125309..23128497-chr20:23131083..23133976,3	MCF-7	breast:
9	chr20:23094897..23098917-chr20:23130908..23134771,6	K562	blood:

No data

Variant related genes	Relation type
ENSG00000178726	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs6048562	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[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	esv2758516	chr20:23029404-23173240	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	esv2758789	chr20:23029404-23179604	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	nsv1066935	chr20:23123507-23146449	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv912817	chr20:23127661-23240969	Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6036322	PAX1	cis	cerebellum	SCAN
rs6036322	RIN2	cis	cerebellum	SCAN

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23120200-23137600	Enhancers	HUVEC	blood vessel
2	chr20:23121000-23144200	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr20:23121600-23138200	Enhancers	Adipose Nuclei	Adipose
4	chr20:23121800-23137600	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr20:23121800-23143000	Enhancers	NHDF-Ad	bronchial
6	chr20:23122600-23138000	Enhancers	NHLF	lung
7	chr20:23124200-23134600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr20:23124400-23133000	Weak transcription	Primary B cells from cord blood	blood
9	chr20:23125000-23137600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr20:23125400-23134400	Enhancers	Monocytes-CD14+_RO01746	blood
11	chr20:23127200-23142200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr20:23127600-23137600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr20:23127600-23137600	Enhancers	Left Ventricle	heart
14	chr20:23127800-23137000	Enhancers	Dnd41	blood
15	chr20:23128200-23133000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
16	chr20:23128200-23136200	Enhancers	Fetal Thymus	thymus
17	chr20:23128800-23137600	Enhancers	Psoas Muscle	Psoas
18	chr20:23129000-23133600	Enhancers	Right Ventricle	heart
19	chr20:23129000-23140800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr20:23129200-23135800	Enhancers	Primary neutrophils fromperipheralblood	blood
21	chr20:23129400-23135200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr20:23129400-23135800	Weak transcription	A549	lung
23	chr20:23129600-23136200	Enhancers	Right Atrium	heart
24	chr20:23129800-23133800	Enhancers	Fetal Muscle Leg	muscle
25	chr20:23130000-23133600	Enhancers	Fetal Muscle Trunk	muscle
26	chr20:23130200-23135800	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr20:23130200-23140400	Weak transcription	Brain Hippocampus Middle	brain
28	chr20:23130800-23133400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr20:23130800-23134800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr20:23131000-23133400	Enhancers	Stomach Smooth Muscle	stomach
31	chr20:23131000-23133400	Enhancers	Spleen	Spleen
32	chr20:23131000-23133800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr20:23131000-23134800	Weak transcription	HMEC	breast
34	chr20:23131200-23133800	Enhancers	Primary hematopoietic stem cells	blood
35	chr20:23131200-23134000	Enhancers	Lung	lung
36	chr20:23131200-23134400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr20:23131200-23134600	Weak transcription	NHEK	skin
38	chr20:23131400-23134600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr20:23131400-23138000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr20:23131600-23133400	Enhancers	Stomach Mucosa	stomach
41	chr20:23131800-23133400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr20:23132000-23133400	Enhancers	Placenta	Placenta
43	chr20:23132000-23133800	Enhancers	Fetal Intestine Small	intestine
44	chr20:23132000-23133800	Enhancers	Fetal Stomach	stomach
45	chr20:23132200-23133400	Enhancers	HSMMtube	muscle
46	chr20:23132200-23133600	Enhancers	Hela-S3	cervix
47	chr20:23132200-23134200	Enhancers	NH-A	brain
48	chr20:23132200-23135400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr20:23132200-23140600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr20:23132400-23133200	Enhancers	Rectal Mucosa Donor 31	rectum

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