Variant report

Variant	rs2358451
Chromosome Location	chr1:212331637-212331638
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:212325199..212329163-chr1:212330168..212333367,6	K562	blood:
2	chr1:212330760..212333077-chr1:212334606..212336652,3	K562	blood:
3	chr1:212325464..212333414-chr1:212456079..212461375,10	K562	blood:
4	chr1:212330819..212333414-chr1:212457168..212459834,2	K562	blood:
5	chr1:212324540..212327607-chr1:212329235..212333367,6	K562	blood:

Variant related genes	Relation type
ENSG00000066027	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12117845	0.80[EUR][1000 genomes]
rs12125796	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12128609	0.84[ASN][1000 genomes]
rs12131323	0.96[ASN][1000 genomes]
rs12139237	0.99[ASN][1000 genomes]
rs12145757	0.84[ASN][1000 genomes]
rs34374547	0.83[EUR][1000 genomes]
rs35720341	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56386133	0.82[EUR][1000 genomes];0.95[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	nsv999738	chr1:212218618-212513690	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1009376	chr1:212292357-212680320	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212309000-212347200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:212314400-212332200	Weak transcription	Dnd41	blood
3	chr1:212320400-212332400	Weak transcription	Gastric	stomach
4	chr1:212323600-212335800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr1:212324600-212340400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr1:212326000-212332400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr1:212326000-212332400	Weak transcription	Right Ventricle	heart
8	chr1:212326400-212332400	Weak transcription	Left Ventricle	heart
9	chr1:212326400-212335000	Weak transcription	Small Intestine	intestine
10	chr1:212326600-212332200	Weak transcription	Lung	lung
11	chr1:212327200-212332200	Weak transcription	Stomach Mucosa	stomach
12	chr1:212327200-212332400	Weak transcription	Primary hematopoietic stem cells	blood
13	chr1:212327600-212332200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr1:212328400-212334600	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr1:212330200-212332600	Enhancers	Thymus	Thymus
16	chr1:212330200-212333200	Enhancers	Liver	Liver
17	chr1:212330400-212332400	Weak transcription	Pancreas	Pancrea
18	chr1:212330800-212332200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr1:212330800-212336800	Enhancers	Fetal Thymus	thymus
20	chr1:212331000-212332000	Weak transcription	K562	blood
21	chr1:212331000-212332200	Weak transcription	Esophagus	oesophagus
22	chr1:212331000-212332400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr1:212331000-212332400	Weak transcription	Spleen	Spleen
24	chr1:212331000-212334400	Weak transcription	NHEK	skin
25	chr1:212331000-212334600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr1:212331000-212334600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr1:212331000-212335800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr1:212331000-212335800	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr1:212331200-212332400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr1:212331200-212334400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr1:212331200-212334400	Weak transcription	HMEC	breast
32	chr1:212331600-212332000	Weak transcription	Right Atrium	heart
33	chr1:212331600-212332600	Enhancers	GM12878-XiMat	blood

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