Variant report

Variant	rs2493121
Chromosome Location	chr1:179272116-179272117
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:179271210..179274172-chr1:179284576..179287486,2	K562	blood:
2	chr1:179264767..179267490-chr1:179269682..179272613,2	K562	blood:
3	chr1:179264612..179267610-chr1:179271522..179273939,3	MCF-7	breast:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1034269	0.90[CHB][hapmap];0.92[JPT][hapmap]
rs10798656	0.90[CHB][hapmap];0.92[JPT][hapmap]
rs10798659	0.82[ASN][1000 genomes]
rs10913713	0.82[ASN][1000 genomes]
rs10913714	0.91[CHB][hapmap];0.93[JPT][hapmap];0.82[ASN][1000 genomes]
rs10913718	0.91[CHB][hapmap];0.93[JPT][hapmap];0.82[ASN][1000 genomes]
rs12047131	0.91[CHB][hapmap];0.92[JPT][hapmap];0.82[ASN][1000 genomes]
rs1475799	0.91[CHB][hapmap];0.93[JPT][hapmap];0.82[ASN][1000 genomes]
rs17368880	0.90[CHB][hapmap];0.92[JPT][hapmap];0.82[ASN][1000 genomes]
rs2862616	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs2902276	0.91[CHB][hapmap];0.93[JPT][hapmap]
rs3923881	0.82[ASN][1000 genomes]
rs3923882	0.82[ASN][1000 genomes]
rs4651022	0.82[ASN][1000 genomes]
rs6425524	0.82[ASN][1000 genomes]
rs6425526	0.82[ASN][1000 genomes]
rs6425533	0.82[ASN][1000 genomes]
rs6667804	0.82[ASN][1000 genomes]
rs6681505	0.89[CHB][hapmap];0.92[JPT][hapmap]
rs6691771	0.82[ASN][1000 genomes]
rs6696781	0.82[ASN][1000 genomes]
rs6698438	0.90[CHB][hapmap];0.92[JPT][hapmap]
rs6699698	0.90[CHB][hapmap];0.92[JPT][hapmap]
rs6704240	0.82[ASN][1000 genomes]
rs7522641	0.90[CHB][hapmap];0.92[JPT][hapmap];0.82[ASN][1000 genomes]
rs7532172	0.91[CHB][hapmap];0.93[JPT][hapmap]
rs7543894	0.91[CHB][hapmap];0.93[JPT][hapmap];0.82[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	nsv1005278	chr1:179197645-179371395	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	16 gene(s)	inside rSNPs	diseases
2	esv990767	chr1:179270152-179277921	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:179263800-179304600	Weak transcription	Lung	lung
2	chr1:179263800-179306400	Weak transcription	Gastric	stomach
3	chr1:179264000-179279600	Weak transcription	Fetal Brain Male	brain
4	chr1:179264200-179290200	Weak transcription	Aorta	Aorta
5	chr1:179264600-179272800	Weak transcription	Fetal Lung	lung
6	chr1:179264600-179273400	Weak transcription	Fetal Intestine Small	intestine
7	chr1:179264600-179273400	Weak transcription	Fetal Muscle Leg	muscle
8	chr1:179264600-179274200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr1:179264600-179275000	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr1:179264600-179278600	Weak transcription	Colonic Mucosa	Colon
11	chr1:179264600-179281200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr1:179264600-179292000	Weak transcription	Rectal Smooth Muscle	rectum
13	chr1:179264600-179304600	Weak transcription	Right Ventricle	heart
14	chr1:179264600-179310200	Weak transcription	Brain Substantia Nigra	brain
15	chr1:179264600-179314000	Weak transcription	Brain Angular Gyrus	brain
16	chr1:179264600-179314000	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr1:179264800-179272200	Weak transcription	Adipose Nuclei	Adipose
18	chr1:179264800-179272200	Weak transcription	HSMM	muscle
19	chr1:179264800-179272200	Weak transcription	NHLF	lung
20	chr1:179264800-179273400	Weak transcription	Ovary	ovary
21	chr1:179264800-179276200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr1:179264800-179276400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr1:179264800-179277800	Weak transcription	Brain Cingulate Gyrus	brain
24	chr1:179264800-179278800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr1:179264800-179279400	Weak transcription	HSMMtube	muscle
26	chr1:179264800-179313800	Weak transcription	Brain Hippocampus Middle	brain
27	chr1:179264800-179313800	Weak transcription	Fetal Brain Female	brain
28	chr1:179264800-179334200	Weak transcription	Colon Smooth Muscle	Colon
29	chr1:179265000-179274200	Weak transcription	HUVEC	blood vessel
30	chr1:179265000-179274200	Weak transcription	K562	blood
31	chr1:179265000-179276200	Weak transcription	Osteobl	bone
32	chr1:179265200-179272400	Weak transcription	Primary hematopoietic stem cells	blood
33	chr1:179265400-179287600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr1:179266200-179272200	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr1:179266400-179276200	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr1:179266400-179286400	Weak transcription	Fetal Kidney	kidney
37	chr1:179266400-179322800	Weak transcription	Small Intestine	intestine
38	chr1:179266800-179272800	Weak transcription	Placenta	Placenta
39	chr1:179267800-179287000	Weak transcription	Spleen	Spleen
40	chr1:179268000-179274000	Weak transcription	HepG2	liver
41	chr1:179268400-179273400	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr1:179268400-179274200	Weak transcription	A549	lung
43	chr1:179268400-179278200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr1:179268400-179280200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr1:179268400-179312000	Weak transcription	Fetal Thymus	thymus
46	chr1:179268800-179272200	Weak transcription	Duodenum Mucosa	Duodenum
47	chr1:179269600-179280000	Weak transcription	Thymus	Thymus
48	chr1:179270200-179283200	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr1:179270400-179274400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr1:179270400-179277600	Strong transcription	Monocytes-CD14+_RO01746	blood

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