Variant report

Variant	rs692877
Chromosome Location	chr1:70758887-70758888
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:70758382..70760843-chr1:70761475..70764285,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs269275	0.90[AFR][1000 genomes]
rs269277	0.90[AFR][1000 genomes]
rs270485	0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs270491	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72678625	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014292	chr1:70689215-70799065	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv999219	chr1:70730556-71014911	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
3	nsv1012563	chr1:70753332-70832118	Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
4	esv1792702	chr1:70755511-70818576	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	esv1801665	chr1:70755511-70832053	Active TSS Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs692877	CTH	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:70688000-70819200	Weak transcription	Esophagus	oesophagus
2	chr1:70714000-70767000	Weak transcription	HSMMtube	muscle
3	chr1:70715600-70767800	Weak transcription	Small Intestine	intestine
4	chr1:70715800-70771000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr1:70716000-70775600	Weak transcription	Spleen	Spleen
6	chr1:70716200-70775200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr1:70716800-70769000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr1:70716800-70769400	Weak transcription	Right Ventricle	heart
9	chr1:70716800-70815800	Weak transcription	Brain Angular Gyrus	brain
10	chr1:70717000-70759000	Weak transcription	Rectal Smooth Muscle	rectum
11	chr1:70717200-70759000	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr1:70717600-70765000	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr1:70717600-70780400	Weak transcription	Brain Substantia Nigra	brain
14	chr1:70717800-70761200	Weak transcription	NHLF	lung
15	chr1:70717800-70765000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr1:70717800-70788200	Weak transcription	Brain Cingulate Gyrus	brain
17	chr1:70719200-70783800	Weak transcription	A549	lung
18	chr1:70728600-70761400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr1:70733800-70773400	Weak transcription	Fetal Kidney	kidney
20	chr1:70734000-70769600	Weak transcription	Pancreas	Pancrea
21	chr1:70734000-70786000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr1:70734400-70786000	Weak transcription	Psoas Muscle	Psoas
23	chr1:70734400-70813000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr1:70736200-70762000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr1:70740600-70759600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr1:70740600-70767000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr1:70744800-70768400	Weak transcription	Stomach Mucosa	stomach
28	chr1:70746800-70759000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr1:70746800-70759000	Weak transcription	Brain Anterior Caudate	brain
30	chr1:70747000-70769400	Weak transcription	Fetal Heart	heart
31	chr1:70750000-70771800	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr1:70751200-70759000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr1:70752400-70767800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr1:70752800-70793400	Weak transcription	Gastric	stomach
35	chr1:70753000-70762000	Strong transcription	Primary T cells from cord blood	blood
36	chr1:70753400-70761600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
37	chr1:70753400-70761800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr1:70753400-70762000	Strong transcription	Fetal Intestine Large	intestine
39	chr1:70753600-70761800	Strong transcription	Duodenum Mucosa	Duodenum
40	chr1:70753600-70766600	Strong transcription	HUES64 Cell Line	embryonic stem cell
41	chr1:70753600-70767800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr1:70753600-70768800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr1:70753600-70769000	Strong transcription	Monocytes-CD14+_RO01746	blood
44	chr1:70753800-70760600	Strong transcription	Adipose Nuclei	Adipose
45	chr1:70753800-70762000	Strong transcription	HUES6 Cell Line	embryonic stem cell
46	chr1:70754200-70760000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr1:70754200-70768800	Strong transcription	Primary T helper cells fromperipheralblood	blood
48	chr1:70754200-70780400	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr1:70754400-70761000	Strong transcription	Fetal Thymus	thymus
50	chr1:70754400-70762400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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