Variant report

Variant	rs13417731
Chromosome Location	chr2:30690049-30690050
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	chr2:30452818..30454421-chr2:30687751..30690665,2	K562	blood:

Variant related genes	Relation type
ENSG00000213626	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs10167738	0.81[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	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
2	nsv833648	chr2:30505882-30696275	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13417731	LYCAT	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30671600-30694600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr2:30671600-30703400	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr2:30671600-30704200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:30678400-30704200	Weak transcription	Fetal Stomach	stomach
5	chr2:30678600-30703800	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr2:30678600-30710600	Weak transcription	NHLF	lung
7	chr2:30682400-30693400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr2:30682400-30704400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr2:30683200-30692400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr2:30688200-30697600	Weak transcription	Thymus	Thymus
11	chr2:30688200-30703400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr2:30688400-30691200	Weak transcription	A549	lung
13	chr2:30688400-30692400	Weak transcription	Ovary	ovary
14	chr2:30688400-30693400	Weak transcription	Fetal Kidney	kidney
15	chr2:30688400-30697200	Weak transcription	Right Ventricle	heart
16	chr2:30688400-30703400	Weak transcription	K562	blood
17	chr2:30688400-30703800	Weak transcription	Left Ventricle	heart
18	chr2:30688400-30704200	Weak transcription	Aorta	Aorta
19	chr2:30688400-30704600	Weak transcription	Rectal Smooth Muscle	rectum
20	chr2:30688600-30692800	Weak transcription	HepG2	liver
21	chr2:30688600-30694400	Weak transcription	Fetal Heart	heart
22	chr2:30688600-30695000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr2:30688600-30695200	Weak transcription	Stomach Smooth Muscle	stomach
24	chr2:30688600-30710000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr2:30688800-30693000	Weak transcription	NHDF-Ad	bronchial
26	chr2:30688800-30695200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr2:30689000-30693400	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr2:30689600-30691800	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr2:30689600-30694800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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