Variant report

Variant	rs13021947
Chromosome Location	chr2:233988343-233988344
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:233982993..233985955-chr2:233987671..233989373,2	K562	blood:

Variant related genes	Relation type
ENSG00000168918	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10176163	1.00[ASN][1000 genomes]
rs10193128	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12694926	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12694927	1.00[ASN][1000 genomes]
rs12694928	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12694929	1.00[ASN][1000 genomes]
rs13013293	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13022011	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13388142	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35368576	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7589369	1.00[ASN][1000 genomes]
rs7597516	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7605743	1.00[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	nsv876009	chr2:233799400-233996429	Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv876012	chr2:233899377-233996429	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:233969800-233996800	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr2:233972800-233989000	Weak transcription	Lung	lung
3	chr2:233976000-233990800	Genic enhancers	Primary B cells from peripheral blood	blood
4	chr2:233978000-233989000	Weak transcription	Left Ventricle	heart
5	chr2:233978000-233991800	Weak transcription	Esophagus	oesophagus
6	chr2:233982200-233989000	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr2:233982200-233997000	Weak transcription	Right Atrium	heart
8	chr2:233982400-233995000	Weak transcription	Colonic Mucosa	Colon
9	chr2:233982600-233995000	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr2:233983400-233990000	Weak transcription	Right Ventricle	heart
11	chr2:233983400-233991600	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr2:233983400-233993400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
13	chr2:233983600-233990000	Weak transcription	Adipose Nuclei	Adipose
14	chr2:233983800-233990200	Weak transcription	Brain Hippocampus Middle	brain
15	chr2:233984000-234003600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr2:233984800-233996400	Weak transcription	Brain Anterior Caudate	brain
17	chr2:233985400-233990000	Weak transcription	Gastric	stomach
18	chr2:233985600-233990600	Weak transcription	Liver	Liver
19	chr2:233985800-233989000	Weak transcription	Fetal Stomach	stomach
20	chr2:233986400-233989000	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr2:233986400-233993600	Strong transcription	Primary T cells from cord blood	blood
22	chr2:233986400-233993600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr2:233986600-233988800	Strong transcription	Fetal Thymus	thymus
24	chr2:233986600-233989600	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr2:233986600-233989600	Strong transcription	Primary T killer memory cells from peripheral blood	blood
26	chr2:233986600-233992000	Strong transcription	Dnd41	blood
27	chr2:233986600-233993000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr2:233986600-233993600	Strong transcription	Primary T cells fromperipheralblood	blood
29	chr2:233986600-233993600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr2:233986600-233993600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr2:233986600-233993600	Strong transcription	Thymus	Thymus
32	chr2:233986600-233994200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr2:233986600-234001200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr2:233986600-234001600	Strong transcription	Primary hematopoietic stem cells	blood
35	chr2:233986600-234001800	Strong transcription	Primary neutrophils fromperipheralblood	blood
36	chr2:233986800-233992400	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr2:233986800-233992600	Strong transcription	Duodenum Mucosa	Duodenum
38	chr2:233986800-233992800	Strong transcription	Primary T helper cells PMA-I stimulated	--
39	chr2:233986800-233993400	Strong transcription	Primary T helper naive cells from peripheral blood	blood
40	chr2:233986800-233994200	Strong transcription	Primary T helper cells fromperipheralblood	blood
41	chr2:233987000-233989000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr2:233987000-233994000	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr2:233987200-233988800	Weak transcription	Placenta	Placenta
44	chr2:233987200-233989000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr2:233987200-233992000	Weak transcription	Pancreas	Pancrea
46	chr2:233987400-233988800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr2:233987400-233988800	Weak transcription	Spleen	Spleen
48	chr2:233987400-233996400	Weak transcription	Fetal Brain Female	brain
49	chr2:233987600-233988600	Strong transcription	Primary B cells from cord blood	blood
50	chr2:233987800-233992400	Strong transcription	HepG2	liver

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