Variant report

Variant	rs10174170
Chromosome Location	chr2:30722290-30722291
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:30721513..30724464-chr2:30730002..30732405,2	K562	blood:
2	chr2:30675011..30677144-chr2:30720980..30723832,2	K562	blood:
3	chr2:30719917..30724610-chr2:30726684..30729828,4	K562	blood:

Extended variants
information (count: 63 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10169001	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10169512	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10170012	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs10176138	0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs10178829	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10180054	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10181161	0.80[AMR][1000 genomes]
rs10198587	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10206659	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10206668	0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs10208299	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10208587	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10210365	0.80[ASN][1000 genomes]
rs11899182	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11901989	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11903573	0.80[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs12463548	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12466071	0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12467831	0.86[ASN][1000 genomes]
rs12468971	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12469849	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12471248	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12476805	0.90[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs13390344	0.84[ASN][1000 genomes]
rs13391492	0.88[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs13393150	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13397800	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13404307	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs13413678	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13424441	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13430515	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13430622	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13432085	0.80[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs17009601	0.86[ASN][1000 genomes]
rs1880539	0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1982286	0.80[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs1997036	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1997037	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2028668	0.80[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2077985	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2123757	0.83[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2167970	0.82[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2363291	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2363294	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2363311	0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs28378040	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4951991	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4952126	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4952127	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4952128	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4952129	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4952130	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4952131	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4952132	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4952135	0.82[AMR][1000 genomes]
rs4952136	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4952137	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4952139	0.85[ASN][1000 genomes]
rs4952141	0.86[ASN][1000 genomes]
rs4952142	0.80[AMR][1000 genomes]
rs7605131	0.80[ASN][1000 genomes]
rs766880	0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533886	chr2:30130019-31068764	ZNF genes & repeats Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10174170	LYCAT	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30711600-30723600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr2:30714400-30723600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr2:30715600-30723800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:30715600-30732800	Weak transcription	Hela-S3	cervix
5	chr2:30716000-30723800	Weak transcription	Ovary	ovary
6	chr2:30716000-30726000	Weak transcription	Aorta	Aorta
7	chr2:30716000-30727600	Weak transcription	Small Intestine	intestine
8	chr2:30716000-30728000	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr2:30716200-30726400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr2:30716200-30726600	Weak transcription	Colon Smooth Muscle	Colon
11	chr2:30716600-30723800	Weak transcription	Right Ventricle	heart
12	chr2:30717800-30722600	ZNF genes & repeats	Primary B cells from peripheral blood	blood
13	chr2:30718400-30724600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
14	chr2:30719800-30723800	Weak transcription	Left Ventricle	heart
15	chr2:30720200-30723200	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr2:30720400-30724200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
17	chr2:30720600-30724400	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
18	chr2:30721200-30723600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr2:30721200-30723800	Weak transcription	Thymus	Thymus
20	chr2:30721200-30727400	Weak transcription	NHLF	lung
21	chr2:30721400-30723400	Weak transcription	A549	lung
22	chr2:30721400-30728400	Weak transcription	Liver	Liver
23	chr2:30721400-30739000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr2:30721600-30722800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr2:30721600-30723600	Weak transcription	Primary hematopoietic stem cells	blood
26	chr2:30721800-30722400	Enhancers	Fetal Lung	lung
27	chr2:30722000-30722400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr2:30722000-30727600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr2:30722200-30725800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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