Variant report

Variant	rs13382540
Chromosome Location	chr2:30689903-30689904
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: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10167738	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs10169001	0.84[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs10169512	0.84[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs10178829	0.84[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs10180054	0.84[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs10198587	0.84[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs10206659	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs10208299	0.84[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs10208587	0.82[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs10210365	0.81[ASN][1000 genomes]
rs11899182	0.84[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs11901989	0.84[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs11903573	0.81[ASN][1000 genomes]
rs12463548	0.90[ASN][1000 genomes]
rs12469849	0.84[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs12471248	0.84[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs12476805	0.84[AFR][1000 genomes]
rs13391492	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs13393150	0.84[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs13397800	0.84[AFR][1000 genomes]
rs13404307	0.90[ASN][1000 genomes]
rs13413678	0.90[ASN][1000 genomes]
rs13424441	0.84[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs13430515	0.90[ASN][1000 genomes]
rs13430622	0.90[ASN][1000 genomes]
rs13432085	0.81[ASN][1000 genomes]
rs1982286	0.81[ASN][1000 genomes]
rs1997036	0.84[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs1997037	0.84[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs2028668	0.81[ASN][1000 genomes]
rs2077985	0.84[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs2123757	0.81[ASN][1000 genomes]
rs2167970	0.81[ASN][1000 genomes]
rs2363291	0.84[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs2363294	0.90[ASN][1000 genomes]
rs28378040	0.90[ASN][1000 genomes]
rs4952126	0.84[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs4952127	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4952128	0.84[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs4952129	0.84[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs4952130	0.84[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs4952131	0.84[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs4952132	0.84[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs7605131	0.81[ASN][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

No data

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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