Variant report

Variant	rs58453167
Chromosome Location	chr1:10123001-10123002
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:10114657..10117201-chr1:10121201..10123431,2	K562	blood:
2	chr1:10118522..10121469-chr1:10122769..10126938,6	K562	blood:

Variant related genes	Relation type
ENSG00000233623	Chromatin interaction
ENSG00000224340	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11801988	0.84[EUR][1000 genomes]
rs11803995	0.84[EUR][1000 genomes]
rs11808311	0.84[EUR][1000 genomes]
rs28671063	0.84[EUR][1000 genomes]
rs41280788	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs56682893	0.84[EUR][1000 genomes]
rs56760324	0.84[EUR][1000 genomes]
rs57216908	0.84[EUR][1000 genomes]
rs61462323	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6693686	0.88[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs6701103	0.84[EUR][1000 genomes]
rs72859590	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72861412	1.00[AMR][1000 genomes]
rs72861431	0.90[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs72861447	0.85[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs72861453	0.84[EUR][1000 genomes]
rs9661116	0.84[EUR][1000 genomes]
rs9661131	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3417409	chr1:9683992-10241703	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv1012469	chr1:9925714-10147796	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv527217	chr1:10093457-10257167	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs58453167	LZIC	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10095000-10127800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:10095000-10147600	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr1:10095200-10134400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr1:10098800-10131200	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr1:10106400-10134000	Weak transcription	Colonic Mucosa	Colon
6	chr1:10106800-10128400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr1:10106800-10134200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr1:10106800-10155400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr1:10107000-10125200	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr1:10107000-10125200	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr1:10107000-10125400	Weak transcription	Small Intestine	intestine
12	chr1:10107000-10140600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr1:10107200-10124000	Weak transcription	Fetal Brain Female	brain
14	chr1:10107200-10125200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:10107200-10125200	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr1:10107400-10124000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr1:10107400-10124200	Strong transcription	Fetal Intestine Small	intestine
18	chr1:10107400-10125200	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr1:10107400-10125400	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr1:10107400-10135200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr1:10107400-10165400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr1:10107600-10125400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr1:10109000-10126400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr1:10109400-10158400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr1:10111400-10125200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr1:10111400-10127000	Weak transcription	Fetal Lung	lung
27	chr1:10113000-10124000	Weak transcription	Primary hematopoietic stem cells	blood
28	chr1:10113000-10132000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr1:10114800-10125200	Weak transcription	Brain Germinal Matrix	brain
30	chr1:10116200-10124200	Weak transcription	HUVEC	blood vessel
31	chr1:10116600-10145000	Weak transcription	Stomach Mucosa	stomach
32	chr1:10118000-10125600	Weak transcription	HSMM	muscle
33	chr1:10118200-10123600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr1:10118200-10123800	Strong transcription	Fetal Stomach	stomach
35	chr1:10118200-10124000	Weak transcription	K562	blood
36	chr1:10118200-10124400	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr1:10118200-10125200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr1:10118200-10125200	Weak transcription	Osteobl	bone
39	chr1:10118200-10163000	Weak transcription	Aorta	Aorta
40	chr1:10118400-10124000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr1:10118400-10125200	Weak transcription	Fetal Heart	heart
42	chr1:10118400-10127000	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr1:10118600-10125200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr1:10118600-10126200	Weak transcription	HSMMtube	muscle
45	chr1:10118800-10123200	Weak transcription	HMEC	breast
46	chr1:10118800-10124000	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chr1:10118800-10124400	Weak transcription	Colon Smooth Muscle	Colon
48	chr1:10118800-10125400	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr1:10118800-10132000	Weak transcription	Primary T cells from cord blood	blood
50	chr1:10119200-10155200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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