Variant report

Variant	rs57890423
Chromosome Location	chr7:128124133-128124134
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:128121751..128124643-chr7:128170477..128172903,2	K562	blood:

Variant related genes	Relation type
ENSG00000242588	Chromatin interaction
ENSG00000273270	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10223975	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10231136	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10272840	0.91[ASN][1000 genomes]
rs11761662	0.88[AMR][1000 genomes]
rs11767993	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11770604	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11771484	0.88[AMR][1000 genomes]
rs11772734	0.91[ASN][1000 genomes]
rs12530672	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12532513	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12540658	0.91[ASN][1000 genomes]
rs13224451	0.91[ASN][1000 genomes]
rs13224784	0.91[ASN][1000 genomes]
rs13226592	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13233642	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13247746	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34742251	0.85[EUR][1000 genomes]
rs4338038	0.91[ASN][1000 genomes]
rs55669239	0.88[AMR][1000 genomes]
rs60654313	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs71546775	0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7790839	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7798776	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7801678	0.80[EUR][1000 genomes];0.91[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	nsv831124	chr7:127970345-128147910	Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
2	nsv966883	chr7:128107081-128142581	Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs57890423	RP11-274B21.10	cis	Skin Sun Exposed Lower leg	GTEx
rs57890423	METTL2B	cis	Artery Tibial	GTEx
rs57890423	METTL2B	cis	Skin Sun Exposed Lower leg	GTEx
rs57890423	CICP14	cis	Nerve Tibial	GTEx
rs57890423	RP11-274B21.10	cis	Thyroid	GTEx

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128117400-128136000	Weak transcription	Aorta	Aorta
2	chr7:128117600-128128400	Weak transcription	Left Ventricle	heart
3	chr7:128117600-128134000	Weak transcription	Ovary	ovary
4	chr7:128117600-128135800	Weak transcription	Esophagus	oesophagus
5	chr7:128117800-128128400	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr7:128117800-128133600	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr7:128117800-128133800	Weak transcription	Thymus	Thymus
8	chr7:128117800-128134600	Weak transcription	Gastric	stomach
9	chr7:128117800-128135800	Weak transcription	Colon Smooth Muscle	Colon
10	chr7:128117800-128136200	Weak transcription	Stomach Mucosa	stomach
11	chr7:128117800-128137200	Weak transcription	Brain Angular Gyrus	brain
12	chr7:128117800-128137200	Weak transcription	Brain Substantia Nigra	brain
13	chr7:128117800-128140000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr7:128117800-128140800	Weak transcription	Psoas Muscle	Psoas
15	chr7:128117800-128141200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr7:128117800-128142800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr7:128117800-128162800	Weak transcription	Pancreas	Pancrea
18	chr7:128117800-128163400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr7:128118000-128126400	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr7:128118000-128128400	Weak transcription	Brain Germinal Matrix	brain
21	chr7:128118000-128128400	Weak transcription	Fetal Heart	heart
22	chr7:128118000-128133800	Weak transcription	Brain Cingulate Gyrus	brain
23	chr7:128118000-128135600	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr7:128118000-128136000	Weak transcription	Small Intestine	intestine
25	chr7:128118000-128136600	Weak transcription	Right Ventricle	heart
26	chr7:128118000-128137200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr7:128118000-128137200	Weak transcription	Rectal Smooth Muscle	rectum
28	chr7:128118000-128137400	Weak transcription	NHLF	lung
29	chr7:128118000-128137800	Weak transcription	Fetal Kidney	kidney
30	chr7:128118000-128139800	Weak transcription	HSMM	muscle
31	chr7:128118000-128141000	Weak transcription	Colonic Mucosa	Colon
32	chr7:128118000-128141800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr7:128118000-128146400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr7:128118000-128146400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr7:128118200-128146400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr7:128118400-128124800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
37	chr7:128118400-128124800	Weak transcription	NHDF-Ad	bronchial
38	chr7:128118400-128134000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr7:128118400-128134000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr7:128118400-128147000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr7:128119000-128124200	Strong transcription	Fetal Muscle Trunk	muscle
42	chr7:128119000-128125400	Strong transcription	HUES48 Cell Line	embryonic stem cell
43	chr7:128119000-128126000	Strong transcription	Dnd41	blood
44	chr7:128119000-128130400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr7:128119200-128124400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
46	chr7:128119200-128126000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr7:128119200-128128200	Weak transcription	HepG2	liver
48	chr7:128119200-128141400	Weak transcription	HUVEC	blood vessel
49	chr7:128119400-128124200	Strong transcription	HUES6 Cell Line	embryonic stem cell
50	chr7:128119600-128142000	Weak transcription	Fetal Brain Male	brain

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