Variant report

Variant	rs2277078
Chromosome Location	chr6:144167477-144167478
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:143827995..143830222-chr6:144165832..144168637,2	K562	blood:
2	chr6:143997746..143999357-chr6:144166227..144168213,2	K562	blood:
3	chr6:144166292..144169400-chr6:144179889..144182426,4	K562	blood:
4	chr6:144166292..144167836-chr6:144180570..144182426,2	K562	blood:

Variant related genes	Relation type
ENSG00000112419	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10872563	0.82[CEU][hapmap];0.83[CHB][hapmap];0.82[CHD][hapmap];0.91[GIH][hapmap];0.95[JPT][hapmap];0.90[TSI][hapmap];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11155328	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11155329	0.83[EUR][1000 genomes]
rs1810524	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1884089	0.82[CHB][hapmap];0.91[JPT][hapmap];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2328508	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3818089	0.81[CHB][hapmap];0.90[JPT][hapmap];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4140442	0.81[CEU][hapmap];0.82[CHB][hapmap];0.95[JPT][hapmap];0.82[YRI][hapmap];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4379307	0.82[ASN][1000 genomes]
rs4896676	0.82[CHB][hapmap];0.82[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.91[LWK][hapmap];0.82[MKK][hapmap];0.87[TSI][hapmap];0.86[YRI][hapmap];0.90[AFR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4896678	0.82[CEU][hapmap];0.83[CHB][hapmap];0.82[CHD][hapmap];0.91[GIH][hapmap];0.95[JPT][hapmap];0.90[TSI][hapmap];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4896679	0.83[EUR][1000 genomes]
rs4896680	0.84[ASN][1000 genomes]
rs62427458	0.87[AFR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6918125	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6927499	0.85[ASN][1000 genomes]
rs6941262	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7773870	0.80[CHB][hapmap];0.81[JPT][hapmap]
rs9484817	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9496785	0.87[AFR][1000 genomes];0.85[EUR][1000 genomes];0.84[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	esv3408554	chr6:144106707-144369589	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv1034894	chr6:144148566-144170036	Active TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2277078	ADAT2	cis	cerebellum	SCAN

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:144165200-144169800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr6:144165400-144168200	Weak transcription	Esophagus	oesophagus
3	chr6:144165400-144168400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr6:144165400-144172800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr6:144165400-144178400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr6:144165600-144169000	Weak transcription	Right Ventricle	heart
7	chr6:144165600-144172200	Weak transcription	Right Atrium	heart
8	chr6:144165600-144172600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr6:144165600-144172600	Strong transcription	Sigmoid Colon	Sigmoid Colon
10	chr6:144165600-144173600	Strong transcription	Placenta	Placenta
11	chr6:144165600-144175800	Weak transcription	Fetal Heart	heart
12	chr6:144165600-144175800	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr6:144165600-144178400	Weak transcription	Stomach Mucosa	stomach
14	chr6:144165600-144186800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr6:144165800-144169600	Weak transcription	Small Intestine	intestine
16	chr6:144165800-144172000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr6:144165800-144172200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr6:144165800-144172200	Strong transcription	HUES64 Cell Line	embryonic stem cell
19	chr6:144165800-144172600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr6:144165800-144172600	Strong transcription	Fetal Stomach	stomach
21	chr6:144165800-144172800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr6:144165800-144172800	Strong transcription	Cortex derived primary cultured neurospheres	brain
23	chr6:144165800-144172800	Strong transcription	Osteobl	bone
24	chr6:144165800-144173600	Strong transcription	HUES48 Cell Line	embryonic stem cell
25	chr6:144165800-144173600	Strong transcription	Skeletal Muscle Male	skeletal muscle
26	chr6:144165800-144174200	Strong transcription	HUES6 Cell Line	embryonic stem cell
27	chr6:144165800-144175400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr6:144166000-144168600	Strong transcription	Brain Cingulate Gyrus	brain
29	chr6:144166000-144169800	Strong transcription	Placenta Amnion	Placenta Amnion
30	chr6:144166000-144170000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
31	chr6:144166000-144170000	Strong transcription	Fetal Brain Male	brain
32	chr6:144166000-144170000	Strong transcription	Hela-S3	cervix
33	chr6:144166000-144170400	Strong transcription	Fetal Kidney	kidney
34	chr6:144166000-144171800	Weak transcription	Psoas Muscle	Psoas
35	chr6:144166000-144172200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr6:144166000-144172400	Strong transcription	ES-I3 Cell Line	embryonic stem cell
37	chr6:144166000-144172400	Strong transcription	HMEC	breast
38	chr6:144166000-144172400	Strong transcription	NHLF	lung
39	chr6:144166000-144172600	Strong transcription	Brain Anterior Caudate	brain
40	chr6:144166000-144172600	Strong transcription	Brain Substantia Nigra	brain
41	chr6:144166000-144172600	Strong transcription	Skeletal Muscle Female	skeletal muscle
42	chr6:144166000-144172600	Strong transcription	HSMMtube	muscle
43	chr6:144166000-144172600	Strong transcription	NH-A	brain
44	chr6:144166000-144172600	Strong transcription	NHDF-Ad	bronchial
45	chr6:144166000-144172800	Strong transcription	Fetal Brain Female	brain
46	chr6:144166000-144172800	Strong transcription	HSMM	muscle
47	chr6:144166000-144172800	Strong transcription	NHEK	skin
48	chr6:144166000-144173000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr6:144166000-144173000	Strong transcription	Left Ventricle	heart
50	chr6:144166000-144173400	Strong transcription	H1 Cell Line	embryonic stem cell

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