Variant report

Variant	rs13016542
Chromosome Location	chr2:145183851-145183852
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:145179160..145181399-chr2:145182530..145184937,4	K562	blood:
2	chr2:145181383..145184291-chr2:145187188..145189063,2	K562	blood:
3	chr2:145183043..145184939-chr2:145191977..145193840,2	K562	blood:

Variant related genes	Relation type
ENSG00000169554	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12996983	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs13009259	1.00[JPT][hapmap]
rs13013418	0.82[CHB][hapmap]
rs17738837	0.82[CHB][hapmap];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34227912	0.82[ASN][1000 genomes]
rs35213774	0.86[EUR][1000 genomes]
rs68066623	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532755	chr2:144631279-145270874	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv1006344	chr2:144657716-145334899	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv535951	chr2:144657716-145334899	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv1067624	chr2:144657717-145425705	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv531413	chr2:144657717-145425705	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv532756	chr2:144746353-145315596	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	nsv1008032	chr2:144840552-145234229	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
8	nsv997624	chr2:144906679-145294503	Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
9	nsv535952	chr2:144906679-145294503	Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
10	nsv532757	chr2:144922143-145263446	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
11	nsv916172	chr2:144970681-145425713	Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
12	nsv948474	chr2:145035890-145436665	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
13	nsv875261	chr2:145093066-145184666	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
14	nsv535953	chr2:145099512-145336083	ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
15	nsv535954	chr2:145128008-145311097	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
16	nsv535955	chr2:145143961-145298714	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
17	nsv535956	chr2:145178224-145311097	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
18	nsv1002563	chr2:145182201-145863253	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
19	nsv535957	chr2:145182201-145863253	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:145140800-145189800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr2:145157200-145184200	Weak transcription	Rectal Smooth Muscle	rectum
3	chr2:145157600-145192000	Weak transcription	Spleen	Spleen
4	chr2:145157800-145206200	Weak transcription	Lung	lung
5	chr2:145158200-145187200	Weak transcription	Aorta	Aorta
6	chr2:145158400-145184400	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr2:145159000-145193800	Weak transcription	Dnd41	blood
8	chr2:145160000-145184000	Weak transcription	HUVEC	blood vessel
9	chr2:145161800-145187200	Weak transcription	Left Ventricle	heart
10	chr2:145161800-145188400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:145162600-145184200	Weak transcription	NH-A	brain
12	chr2:145162600-145188000	Weak transcription	Right Atrium	heart
13	chr2:145162600-145206600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr2:145164400-145184000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr2:145164400-145184800	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr2:145172000-145185000	Weak transcription	Small Intestine	intestine
17	chr2:145172200-145184800	Weak transcription	Right Ventricle	heart
18	chr2:145172200-145187200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr2:145172200-145187200	Weak transcription	Psoas Muscle	Psoas
20	chr2:145172200-145187400	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr2:145174400-145187200	Strong transcription	K562	blood
22	chr2:145175200-145184200	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr2:145175400-145184000	Weak transcription	Fetal Kidney	kidney
24	chr2:145176000-145184200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr2:145176400-145187400	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr2:145177600-145184400	Strong transcription	NHDF-Ad	bronchial
27	chr2:145178800-145184600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr2:145179000-145184200	Weak transcription	Fetal Stomach	stomach
29	chr2:145179000-145184400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr2:145179000-145184600	Weak transcription	Ovary	ovary
31	chr2:145179000-145210200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr2:145179400-145186000	Enhancers	Brain Substantia Nigra	brain
33	chr2:145179800-145184200	Weak transcription	Fetal Brain Female	brain
34	chr2:145179800-145184600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr2:145180000-145185800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr2:145180200-145184600	Weak transcription	Fetal Muscle Leg	muscle
37	chr2:145181200-145186000	Enhancers	Brain Anterior Caudate	brain
38	chr2:145181600-145189600	Enhancers	Primary neutrophils fromperipheralblood	blood
39	chr2:145182200-145190800	Genic enhancers	Primary monocytes fromperipheralblood	blood
40	chr2:145182400-145184200	Enhancers	Primary B cells from cord blood	blood
41	chr2:145182400-145187000	Enhancers	Brain Angular Gyrus	brain
42	chr2:145182600-145184200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr2:145182600-145184800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr2:145182600-145185400	Enhancers	Brain Inferior Temporal Lobe	brain
45	chr2:145182600-145186200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr2:145182600-145186400	Weak transcription	Placenta	Placenta
47	chr2:145182800-145184000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr2:145182800-145184000	Weak transcription	Fetal Brain Male	brain
49	chr2:145182800-145184200	Weak transcription	NHLF	lung
50	chr2:145182800-145184400	Weak transcription	Skeletal Muscle Female	skeletal muscle

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