Variant report

Variant	rs34458304
Chromosome Location	chr2:10555213-10555214
allele	-/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:10555120-10556687	A549	lung:	n/a	n/a
2	MAX	chr2:10555172-10555888	MCF-7	breast:	n/a	n/a
3	POLR2A	chr2:10554692-10557277	PANC-1	pancreas:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:10259759..10261532-chr2:10554581..10556827,2	K562	blood:
2	chr2:10552687..10555850-chr2:10585657..10589524,6	K562	blood:
3	chr2:10554154..10555987-chr2:10559680..10562435,2	K562	blood:
4	chr2:10265350..10267380-chr2:10553704..10556692,2	K562	blood:
5	chr2:10548229..10551901-chr2:10552572..10557970,6	K562	blood:
6	chr2:10265350..10268132-chr2:10555192..10558386,3	K562	blood:
7	chr2:10259957..10264310-chr2:10552122..10556376,5	MCF-7	breast:
8	chr2:10554255..10555987-chr2:10558849..10561180,2	K562	blood:
9	chr2:10552751..10557401-chr2:10586002..10589007,6	K562	blood:

No data

Variant related genes	Relation type
HPCAL1	TF binding region
ENSG00000171848	Chromatin interaction
ENSG00000257135	Chromatin interaction
ENSG00000206633	Chromatin interaction
ENSG00000115756	Chromatin interaction
ENSG00000272524	Chromatin interaction
ENSG00000115758	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs7603265	0.96[EUR][1000 genomes]
rs7603352	0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530829	chr2:10357105-10655131	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
2	nsv873643	chr2:10535481-10583160	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv873644	chr2:10537347-10576424	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv873645	chr2:10537347-10612091	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
5	nsv1007185	chr2:10540386-10791743	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
6	nsv873646	chr2:10550517-10612091	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10549000-10570400	Weak transcription	Psoas Muscle	Psoas
2	chr2:10549400-10562200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr2:10549400-10563400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr2:10549600-10562200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr2:10549600-10572400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr2:10549800-10561200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr2:10549800-10562200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr2:10549800-10562600	Weak transcription	Esophagus	oesophagus
9	chr2:10549800-10563400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr2:10550200-10571800	Weak transcription	Small Intestine	intestine
11	chr2:10551200-10574800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr2:10551400-10564400	Weak transcription	Fetal Kidney	kidney
13	chr2:10551600-10555400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr2:10551600-10557800	Enhancers	Pancreas	Pancrea
15	chr2:10552000-10556400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr2:10552000-10559600	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr2:10552200-10559600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr2:10552200-10559800	Weak transcription	Ovary	ovary
19	chr2:10552400-10555400	Enhancers	HMEC	breast
20	chr2:10552400-10558800	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr2:10552600-10555400	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr2:10552600-10555400	Weak transcription	HepG2	liver
23	chr2:10552600-10555600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr2:10552600-10556000	Enhancers	Sigmoid Colon	Sigmoid Colon
25	chr2:10552600-10556400	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr2:10552600-10556600	Enhancers	Fetal Muscle Leg	muscle
27	chr2:10552800-10555800	Enhancers	Fetal Heart	heart
28	chr2:10552800-10556000	Enhancers	Colonic Mucosa	Colon
29	chr2:10552800-10556400	Enhancers	Gastric	stomach
30	chr2:10552800-10561400	Weak transcription	Primary B cells from cord blood	blood
31	chr2:10553000-10555600	Enhancers	Primary B cells from peripheral blood	blood
32	chr2:10553000-10555600	Genic enhancers	Fetal Intestine Small	intestine
33	chr2:10553000-10555800	Enhancers	HSMM	muscle
34	chr2:10553000-10556000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr2:10553000-10556000	Enhancers	Fetal Intestine Large	intestine
36	chr2:10553000-10556600	Strong transcription	Primary monocytes fromperipheralblood	blood
37	chr2:10553000-10559400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr2:10553000-10559600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr2:10553000-10559600	Weak transcription	Stomach Smooth Muscle	stomach
40	chr2:10553000-10559800	Weak transcription	Primary neutrophils fromperipheralblood	blood
41	chr2:10553000-10559800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr2:10553000-10559800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr2:10553000-10560200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr2:10553000-10573200	Weak transcription	K562	blood
45	chr2:10553400-10556200	Enhancers	Stomach Mucosa	stomach
46	chr2:10553400-10558200	Weak transcription	Primary T helper cells fromperipheralblood	blood
47	chr2:10553400-10559600	Weak transcription	Primary T cells fromperipheralblood	blood
48	chr2:10553600-10555400	Enhancers	Brain Cingulate Gyrus	brain
49	chr2:10553600-10555400	Enhancers	Right Ventricle	heart
50	chr2:10553600-10555600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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