Variant report

Variant	rs34613643
Chromosome Location	chr2:145194577-145194578
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:145192975..145195951-chr2:145200212..145202235,3	K562	blood:
2	chr2:145190065..145193052-chr2:145193360..145196551,3	K562	blood:
3	chr2:145194561..145196178-chr2:145264637..145266543,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs13013418	0.96[AFR][1000 genomes]
rs61294254	1.00[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	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
14	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
15	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
16	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
17	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
18	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
19	nsv535958	chr2:145190081-145285400	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:145157800-145206200	Weak transcription	Lung	lung
2	chr2:145162600-145206600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:145179000-145210200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr2:145183000-145194600	Weak transcription	Hela-S3	cervix
5	chr2:145185000-145196000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr2:145185600-145203000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr2:145187600-145194600	Weak transcription	HUVEC	blood vessel
8	chr2:145187600-145198200	Weak transcription	Placenta	Placenta
9	chr2:145187600-145198200	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr2:145188800-145196200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:145189000-145198400	Weak transcription	Duodenum Mucosa	Duodenum
12	chr2:145189200-145198400	Weak transcription	Right Ventricle	heart
13	chr2:145189200-145199600	Weak transcription	Rectal Smooth Muscle	rectum
14	chr2:145189200-145206600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr2:145189400-145196400	Weak transcription	Psoas Muscle	Psoas
16	chr2:145189400-145198400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr2:145190000-145201000	Weak transcription	Fetal Kidney	kidney
18	chr2:145190200-145196200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr2:145190400-145194600	Enhancers	Brain Germinal Matrix	brain
20	chr2:145190400-145196200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr2:145190800-145195600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr2:145190800-145198200	Weak transcription	Fetal Heart	heart
23	chr2:145190800-145199600	Weak transcription	Osteobl	bone
24	chr2:145190800-145205200	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr2:145190800-145206200	Enhancers	Brain Substantia Nigra	brain
26	chr2:145191000-145196200	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr2:145191000-145196400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr2:145191000-145201000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr2:145191200-145196200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr2:145191200-145196200	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr2:145191400-145198200	Weak transcription	NHLF	lung
32	chr2:145191600-145195800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr2:145191600-145196400	Weak transcription	Adipose Nuclei	Adipose
34	chr2:145191600-145198600	Enhancers	Brain Inferior Temporal Lobe	brain
35	chr2:145191600-145200000	Genic enhancers	Primary monocytes fromperipheralblood	blood
36	chr2:145191800-145196400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr2:145191800-145197000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
38	chr2:145192000-145195200	Weak transcription	Fetal Brain Female	brain
39	chr2:145192000-145197000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr2:145192200-145195800	Weak transcription	NHDF-Ad	bronchial
41	chr2:145192200-145196400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr2:145192200-145196800	Strong transcription	Primary hematopoietic stem cells	blood
43	chr2:145192200-145202000	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr2:145192400-145196400	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr2:145192400-145197400	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr2:145192400-145198400	Weak transcription	Fetal Stomach	stomach
47	chr2:145192400-145198800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr2:145192600-145195800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr2:145192600-145196800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr2:145192600-145198400	Enhancers	Brain Hippocampus Middle	brain

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