Variant report

Variant	rs13392757
Chromosome Location	chr2:30793594-30793595
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	chr2:30785460..30787626-chr2:30791866..30794044,2	K562	blood:
2	chr2:30792640..30794473-chr2:30882376..30885137,2	K562	blood:

Extended variants
information (count: 92 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:91)

rs_ID	r²[population]
rs10169001	0.85[CEU][hapmap];0.91[JPT][hapmap]
rs10170012	0.85[CEU][hapmap];0.90[JPT][hapmap]
rs10176138	0.86[CEU][hapmap];0.91[JPT][hapmap]
rs10198587	0.86[CEU][hapmap];0.91[JPT][hapmap]
rs10200589	0.90[JPT][hapmap]
rs10200895	0.89[CHB][hapmap];0.90[JPT][hapmap]
rs10201020	0.91[JPT][hapmap]
rs10204301	0.90[CHB][hapmap];0.90[JPT][hapmap]
rs10206668	0.86[CEU][hapmap];0.91[JPT][hapmap]
rs10208299	0.85[CEU][hapmap];0.91[JPT][hapmap]
rs10208587	0.84[CEU][hapmap];0.91[JPT][hapmap]
rs10469986	0.86[CEU][hapmap];0.90[JPT][hapmap]
rs10469987	0.86[CEU][hapmap];0.90[JPT][hapmap]
rs10514772	0.90[CHB][hapmap];0.90[JPT][hapmap]
rs1074066	0.90[CHB][hapmap];0.90[JPT][hapmap]
rs11127277	0.85[CEU][hapmap];0.90[CHB][hapmap];0.91[JPT][hapmap]
rs11899182	0.85[CEU][hapmap];0.82[JPT][hapmap]
rs11901989	0.86[CEU][hapmap];0.89[JPT][hapmap]
rs12466818	0.91[JPT][hapmap]
rs12467646	0.90[JPT][hapmap]
rs12467831	0.86[CEU][hapmap];0.91[JPT][hapmap]
rs12469630	0.90[CHB][hapmap];0.91[JPT][hapmap]
rs12469745	0.90[CHB][hapmap];0.91[JPT][hapmap]
rs12469849	0.86[CEU][hapmap];0.91[JPT][hapmap]
rs12471868	0.90[JPT][hapmap]
rs12474202	0.91[JPT][hapmap]
rs12475104	0.86[CEU][hapmap];0.91[JPT][hapmap]
rs12476805	0.91[JPT][hapmap]
rs12477267	0.86[CEU][hapmap];0.91[JPT][hapmap]
rs13383939	0.90[CHB][hapmap];0.91[JPT][hapmap]
rs13388156	0.85[CEU][hapmap];0.91[JPT][hapmap]
rs13393150	0.85[CEU][hapmap];0.90[JPT][hapmap]
rs13405340	0.90[JPT][hapmap]
rs13408621	0.90[JPT][hapmap]
rs13412012	0.84[CEU][hapmap];0.89[CHB][hapmap];0.90[JPT][hapmap]
rs13413678	0.85[CEU][hapmap];0.90[JPT][hapmap]
rs13413980	0.85[CEU][hapmap];0.91[JPT][hapmap]
rs13414468	0.86[CEU][hapmap];0.91[JPT][hapmap]
rs13417949	0.85[CEU][hapmap];0.91[JPT][hapmap]
rs13419435	0.90[CHB][hapmap];0.91[JPT][hapmap]
rs13424441	0.85[CEU][hapmap];0.91[JPT][hapmap]
rs13427862	0.89[CHB][hapmap];0.90[JPT][hapmap]
rs13430515	0.85[CEU][hapmap];0.91[JPT][hapmap]
rs13430622	0.85[CEU][hapmap];0.91[JPT][hapmap]
rs13432085	0.84[CEU][hapmap];0.91[JPT][hapmap]
rs1404607	0.86[CEU][hapmap];0.90[JPT][hapmap]
rs17009601	0.86[CEU][hapmap];0.91[JPT][hapmap]
rs17009805	0.86[CEU][hapmap];0.90[CHB][hapmap];0.91[JPT][hapmap]
rs17009808	0.86[CEU][hapmap];0.90[CHB][hapmap];0.91[JPT][hapmap]
rs1869425	0.90[CHB][hapmap];0.91[JPT][hapmap]
rs1982286	0.86[CEU][hapmap];0.91[JPT][hapmap]
rs1997036	0.86[CEU][hapmap];0.90[JPT][hapmap]
rs1997037	0.85[CEU][hapmap];0.91[JPT][hapmap]
rs2028668	0.86[CEU][hapmap];0.91[JPT][hapmap]
rs2084301	0.90[CHB][hapmap];0.91[JPT][hapmap]
rs2100112	0.90[CHB][hapmap];0.91[JPT][hapmap]
rs2100113	0.90[CHB][hapmap];0.90[JPT][hapmap]
rs2166669	0.89[CHB][hapmap];0.90[JPT][hapmap]
rs2167970	0.85[CEU][hapmap];0.86[JPT][hapmap]
rs2363294	0.86[CEU][hapmap];0.91[JPT][hapmap]
rs2363311	0.86[CEU][hapmap];0.91[JPT][hapmap]
rs2363851	0.89[CHB][hapmap];0.90[JPT][hapmap]
rs3816593	0.90[JPT][hapmap]
rs4144806	0.86[CEU][hapmap];0.90[JPT][hapmap]
rs4951993	0.85[CEU][hapmap]
rs4951994	0.85[CEU][hapmap];0.91[JPT][hapmap]
rs4951998	0.88[CHB][hapmap];0.91[JPT][hapmap]
rs4952000	0.89[CHB][hapmap];0.90[JPT][hapmap]
rs4952003	0.85[CEU][hapmap];0.90[JPT][hapmap]
rs4952004	0.90[JPT][hapmap]
rs4952126	0.84[CEU][hapmap];0.91[JPT][hapmap]
rs4952129	0.86[CEU][hapmap];0.90[JPT][hapmap]
rs4952130	0.85[CEU][hapmap];0.91[JPT][hapmap]
rs4952132	0.86[CEU][hapmap];0.91[JPT][hapmap]
rs4952141	0.86[CEU][hapmap];0.90[JPT][hapmap]
rs4952142	0.85[CEU][hapmap];0.90[JPT][hapmap]
rs4952149	0.86[CEU][hapmap];0.90[JPT][hapmap]
rs4952150	0.91[JPT][hapmap]
rs4952151	0.84[CHB][hapmap]
rs4952152	0.85[CEU][hapmap];0.89[CHB][hapmap];0.90[JPT][hapmap]
rs4952154	0.89[CHB][hapmap];0.90[JPT][hapmap]
rs4952155	0.89[CHB][hapmap];0.90[JPT][hapmap]
rs4952161	0.89[CHB][hapmap];0.90[JPT][hapmap]
rs4952162	0.90[CHB][hapmap];0.90[JPT][hapmap]
rs4952163	0.90[CHB][hapmap];0.91[JPT][hapmap]
rs6723023	0.85[CEU][hapmap];0.90[JPT][hapmap]
rs7355326	0.90[CHB][hapmap];0.90[JPT][hapmap]
rs7355456	0.90[CHB][hapmap];0.91[JPT][hapmap]
rs7597579	0.90[CHB][hapmap];0.91[JPT][hapmap]
rs766880	0.85[CEU][hapmap];0.90[JPT][hapmap]
rs9309681	0.86[CEU][hapmap];0.90[JPT][hapmap]

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
rs13392757	LYCAT	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30749000-30812600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr2:30757800-30809000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr2:30758200-30795000	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr2:30758600-30853800	Weak transcription	Thymus	Thymus
5	chr2:30758800-30809600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr2:30759200-30805600	Weak transcription	K562	blood
7	chr2:30765000-30793600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr2:30766800-30810200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:30774800-30812000	Weak transcription	Fetal Lung	lung
10	chr2:30777000-30815800	Weak transcription	Fetal Intestine Small	intestine
11	chr2:30781200-30795200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr2:30783400-30806000	Weak transcription	GM12878-XiMat	blood
13	chr2:30783400-30819800	Weak transcription	Stomach Smooth Muscle	stomach
14	chr2:30783800-30796000	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr2:30783800-30811000	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr2:30784000-30797400	Weak transcription	Brain Cingulate Gyrus	brain
17	chr2:30784000-30812200	Weak transcription	NH-A	brain
18	chr2:30784600-30793800	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr2:30784600-30798800	Weak transcription	Liver	Liver
20	chr2:30784800-30802400	Weak transcription	Fetal Muscle Leg	muscle
21	chr2:30784800-30804000	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr2:30785000-30794400	Weak transcription	HMEC	breast
23	chr2:30785200-30806800	Weak transcription	Lung	lung
24	chr2:30785200-30826600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr2:30785400-30818800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr2:30785800-30802800	Weak transcription	Dnd41	blood
27	chr2:30786200-30806400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr2:30786400-30797600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr2:30786600-30794400	Weak transcription	Duodenum Mucosa	Duodenum
30	chr2:30786600-30797400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr2:30786600-30797800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr2:30786600-30808200	Weak transcription	Left Ventricle	heart
33	chr2:30786600-30818200	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr2:30786600-30822400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr2:30786800-30795200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr2:30786800-30797200	Weak transcription	Primary hematopoietic stem cells	blood
37	chr2:30786800-30806400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr2:30786800-30807200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr2:30786800-30818200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr2:30787800-30795600	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr2:30788200-30794800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr2:30788800-30794000	Weak transcription	Hela-S3	cervix
43	chr2:30789000-30795200	Weak transcription	Small Intestine	intestine
44	chr2:30789000-30797600	Weak transcription	Pancreas	Pancrea
45	chr2:30789000-30799600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr2:30789000-30816600	Weak transcription	Esophagus	oesophagus
47	chr2:30789200-30810800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr2:30789200-30818800	Weak transcription	Fetal Intestine Large	intestine
49	chr2:30789600-30797600	Weak transcription	NHLF	lung
50	chr2:30789800-30793600	Weak transcription	HSMMtube	muscle

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