Variant report

Variant	rs10205421
Chromosome Location	chr2:58297664-58297665
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:58288525..58290696-chr2:58296073..58298734,2	K562	blood:
2	chr2:58291888..58295027-chr2:58296997..58299740,3	K562	blood:
3	chr2:58272740..58275363-chr2:58295743..58298004,2	MCF-7	breast:
4	chr2:58286306..58289261-chr2:58295649..58298415,2	K562	blood:

Variant related genes	Relation type
ENSG00000251738	Chromatin interaction
ENSG00000028116	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10188070	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12620940	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2043890	0.82[EUR][1000 genomes]
rs2118899	0.81[AMR][1000 genomes]
rs961522	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs968653	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs986512	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv525988	chr2:58161520-58427786	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv999591	chr2:58214871-58316147	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv582097	chr2:58266099-58346966	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
4	nsv874201	chr2:58269871-58350504	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv874202	chr2:58269871-58375688	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:58274600-58298600	Weak transcription	Spleen	Spleen
2	chr2:58274600-58302400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:58274800-58302200	Weak transcription	Aorta	Aorta
4	chr2:58274800-58317400	Weak transcription	Fetal Muscle Trunk	muscle
5	chr2:58275000-58302600	Weak transcription	Esophagus	oesophagus
6	chr2:58275000-58302800	Weak transcription	Fetal Stomach	stomach
7	chr2:58275000-58305600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr2:58275000-58317400	Weak transcription	Colon Smooth Muscle	Colon
9	chr2:58275000-58321600	Weak transcription	Rectal Smooth Muscle	rectum
10	chr2:58275000-58326600	Weak transcription	Pancreas	Pancrea
11	chr2:58275800-58316800	Weak transcription	HMEC	breast
12	chr2:58279000-58319000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr2:58279400-58315600	Weak transcription	Dnd41	blood
14	chr2:58281000-58297800	Weak transcription	Fetal Lung	lung
15	chr2:58282400-58300400	Weak transcription	Stomach Smooth Muscle	stomach
16	chr2:58282400-58301400	Weak transcription	Lung	lung
17	chr2:58282600-58350400	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr2:58283600-58298400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:58284200-58303800	Weak transcription	Gastric	stomach
20	chr2:58284200-58317600	Weak transcription	HepG2	liver
21	chr2:58284400-58325000	Weak transcription	NHEK	skin
22	chr2:58285200-58317000	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr2:58286200-58302200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr2:58286200-58317600	Weak transcription	K562	blood
25	chr2:58286400-58302000	Weak transcription	Hela-S3	cervix
26	chr2:58286400-58317600	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr2:58287200-58298400	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr2:58287200-58315800	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr2:58288200-58311000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr2:58289400-58300000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr2:58289400-58300200	Weak transcription	Duodenum Mucosa	Duodenum
32	chr2:58290000-58301000	Weak transcription	Placenta	Placenta
33	chr2:58290400-58315800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr2:58291200-58299600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr2:58291200-58301800	Weak transcription	Thymus	Thymus
36	chr2:58291200-58316400	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr2:58291400-58302200	Weak transcription	Brain Substantia Nigra	brain
38	chr2:58291400-58302200	Weak transcription	Fetal Heart	heart
39	chr2:58291600-58305800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr2:58291600-58315600	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr2:58291600-58316200	Weak transcription	HUVEC	blood vessel
42	chr2:58291600-58317800	Weak transcription	HSMM	muscle
43	chr2:58291600-58317800	Weak transcription	NH-A	brain
44	chr2:58291600-58319000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr2:58291600-58321800	Weak transcription	Fetal Thymus	thymus
46	chr2:58291600-58325000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr2:58291800-58306400	Weak transcription	HSMMtube	muscle
48	chr2:58291800-58318800	Weak transcription	Osteobl	bone
49	chr2:58292000-58316200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr2:58292200-58316200	Weak transcription	Primary T helper cells PMA-I stimulated	--

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