Variant report

Variant	rs2797254
Chromosome Location	chr1:215801685-215801686
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:215800801..215802863-chr1:215808935..215811230,2	K562	blood:
2	chr1:215798744..215802363-chr1:215803152..215806303,5	K562	blood:
3	chr1:215800499..215802863-chr1:215807797..215810435,2	K562	blood:
4	chr1:215781731..215784495-chr1:215800673..215802393,2	K562	blood:
5	chr1:215782995..215785148-chr1:215799884..215802393,2	K562	blood:

Variant related genes	Relation type
ENSG00000202498	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10779657	0.81[ASN][1000 genomes]
rs1361779	0.84[ASN][1000 genomes]
rs14137	0.88[EUR][1000 genomes]
rs2677111	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2677118	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2797224	0.85[ASN][1000 genomes]
rs2797229	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2797386	0.85[ASN][1000 genomes]
rs2797393	0.84[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430324	chr1:215649163-216082605	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:215741800-215809800	Weak transcription	Colonic Mucosa	Colon
2	chr1:215750000-215805000	Weak transcription	Lung	lung
3	chr1:215750200-215804400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:215750200-215809200	Weak transcription	Gastric	stomach
5	chr1:215755800-215804800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr1:215786600-215809400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:215787200-215810200	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr1:215787600-215801800	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr1:215791000-215804400	Weak transcription	Esophagus	oesophagus
10	chr1:215791000-215805000	Weak transcription	Fetal Intestine Small	intestine
11	chr1:215792400-215810200	Weak transcription	Aorta	Aorta
12	chr1:215792600-215801800	Weak transcription	Fetal Stomach	stomach
13	chr1:215792600-215802800	Weak transcription	Fetal Brain Male	brain
14	chr1:215792600-215804400	Weak transcription	NHEK	skin
15	chr1:215792600-215809800	Weak transcription	Pancreas	Pancrea
16	chr1:215793600-215804400	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr1:215794400-215802200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr1:215794400-215804200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr1:215794400-215804600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr1:215794400-215804600	Weak transcription	HMEC	breast
21	chr1:215794400-215810000	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr1:215794600-215805000	Weak transcription	HSMM	muscle
23	chr1:215794600-215808600	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr1:215794600-215809600	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr1:215794800-215801800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr1:215794800-215804400	Weak transcription	HepG2	liver
27	chr1:215794800-215805000	Weak transcription	A549	lung
28	chr1:215794800-215805000	Weak transcription	NHLF	lung
29	chr1:215794800-215809400	Weak transcription	Placenta	Placenta
30	chr1:215795800-215809600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr1:215796000-215804400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr1:215796000-215804800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr1:215796000-215808000	Weak transcription	Duodenum Mucosa	Duodenum
34	chr1:215796000-215809600	Weak transcription	Fetal Lung	lung
35	chr1:215796200-215802800	Weak transcription	NH-A	brain
36	chr1:215796400-215802000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr1:215796400-215802600	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr1:215796800-215804800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr1:215797000-215804400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr1:215797000-215804600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr1:215797000-215804800	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr1:215797000-215805000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr1:215797000-215805000	Weak transcription	Fetal Intestine Large	intestine
44	chr1:215797000-215805200	Weak transcription	Stomach Smooth Muscle	stomach
45	chr1:215797000-215809600	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr1:215797400-215803000	Weak transcription	Brain Hippocampus Middle	brain
47	chr1:215797400-215806000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr1:215797400-215809400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr1:215797600-215804800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr1:215797600-215809400	Weak transcription	Osteobl	bone

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