Variant report

Variant	rs35913553
Chromosome Location	chr2:48689636-48689637
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	chr2:48684437..48686849-chr2:48687895..48689698,2	K562	blood:
2	chr2:48689547..48691665-chr2:48695369..48698344,3	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10209255	0.83[AMR][1000 genomes]
rs10211336	0.95[EUR][1000 genomes]
rs10454134	0.92[EUR][1000 genomes]
rs11125173	0.87[AMR][1000 genomes]
rs11683639	0.95[EUR][1000 genomes]
rs11683708	0.95[EUR][1000 genomes]
rs11689622	0.93[EUR][1000 genomes]
rs13400909	0.93[EUR][1000 genomes]
rs13401749	0.95[EUR][1000 genomes]
rs13401752	0.95[EUR][1000 genomes]
rs4131784	0.87[AMR][1000 genomes]
rs4494796	0.95[EUR][1000 genomes]
rs4547570	0.88[EUR][1000 genomes]
rs55757090	0.81[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs55971719	0.95[EUR][1000 genomes]
rs56156294	0.86[EUR][1000 genomes]
rs56365822	0.89[EUR][1000 genomes]
rs58020097	0.95[EUR][1000 genomes]
rs58969359	0.95[EUR][1000 genomes]
rs59045263	0.87[EUR][1000 genomes]
rs59356309	0.93[AMR][1000 genomes]
rs60042255	0.89[EUR][1000 genomes]
rs60825643	0.91[EUR][1000 genomes]
rs60988618	0.91[EUR][1000 genomes]
rs6747441	0.88[EUR][1000 genomes]
rs72820454	0.89[EUR][1000 genomes]
rs72820474	0.94[EUR][1000 genomes]
rs72820479	0.95[EUR][1000 genomes]
rs72820484	0.95[EUR][1000 genomes]
rs72820492	0.95[EUR][1000 genomes]
rs72820494	0.81[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs72822226	0.87[AMR][1000 genomes]
rs72822230	0.93[AMR][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	esv2762252	chr2:48554150-48741093	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv581775	chr2:48619869-48714938	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs35913553	CCDC128	Cis_1M	lymphoblastoid	RTeQTL
rs35913553	PPP1R21	cis	Thyroid	GTEx

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48669200-48698200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:48669400-48693800	Weak transcription	Hela-S3	cervix
3	chr2:48669600-48694200	Weak transcription	Fetal Brain Male	brain
4	chr2:48671800-48692400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr2:48673000-48697400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr2:48673200-48724000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr2:48676200-48692000	Weak transcription	Psoas Muscle	Psoas
8	chr2:48677800-48699600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr2:48678000-48696400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr2:48678200-48696400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:48678200-48698800	Strong transcription	Fetal Thymus	thymus
12	chr2:48678200-48700000	Strong transcription	Primary T cells fromperipheralblood	blood
13	chr2:48678400-48695600	Strong transcription	Dnd41	blood
14	chr2:48678400-48699400	Strong transcription	Primary T helper cells fromperipheralblood	blood
15	chr2:48678400-48699400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr2:48678800-48695600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr2:48678800-48696200	Strong transcription	Duodenum Mucosa	Duodenum
18	chr2:48678800-48696400	Strong transcription	Fetal Muscle Trunk	muscle
19	chr2:48679000-48696400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr2:48679000-48696600	Strong transcription	HUES64 Cell Line	embryonic stem cell
21	chr2:48679200-48695800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
22	chr2:48679200-48696200	Strong transcription	Primary T cells from cord blood	blood
23	chr2:48679600-48693800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr2:48679600-48697800	Weak transcription	Fetal Heart	heart
25	chr2:48680000-48696200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr2:48680000-48706200	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr2:48680400-48695800	Strong transcription	HUES48 Cell Line	embryonic stem cell
28	chr2:48680800-48696600	Strong transcription	Liver	Liver
29	chr2:48681000-48691600	Strong transcription	Rectal Mucosa Donor 29	rectum
30	chr2:48681000-48696400	Strong transcription	Rectal Mucosa Donor 31	rectum
31	chr2:48681200-48699400	Strong transcription	Primary T helper cells PMA-I stimulated	--
32	chr2:48681600-48695400	Strong transcription	HepG2	liver
33	chr2:48681600-48696200	Strong transcription	HUES6 Cell Line	embryonic stem cell
34	chr2:48681600-48696200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr2:48681600-48696200	Strong transcription	Primary T helper naive cells from peripheral blood	blood
36	chr2:48681600-48696400	Strong transcription	Fetal Intestine Large	intestine
37	chr2:48681600-48696800	Strong transcription	Sigmoid Colon	Sigmoid Colon
38	chr2:48681800-48691400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr2:48681800-48692000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr2:48681800-48696000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr2:48681800-48696200	Strong transcription	Duodenum Smooth Muscle	Duodenum
42	chr2:48681800-48696400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr2:48681800-48696400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr2:48681800-48696400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
45	chr2:48682000-48690400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr2:48682600-48716200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr2:48682800-48690600	Strong transcription	A549	lung
48	chr2:48683000-48691800	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr2:48683200-48696200	Strong transcription	Skeletal Muscle Female	skeletal muscle
50	chr2:48683200-48697200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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