Variant report

Variant	rs12131448
Chromosome Location	chr1:85037573-85037574
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:84966614..84978118-chr1:85034515..85041986,38	K562	blood:
2	chr1:84966967..84974535-chr1:85036439..85041823,24	K562	blood:
3	chr1:85037440..85039387-chr1:85215533..85217595,2	K562	blood:
4	chr1:85035225..85038066-chr1:85038637..85040329,3	MCF-7	breast:
5	chr1:78469816..78472130-chr1:85037007..85038598,2	K562	blood:
6	chr1:84953201..84955322-chr1:85035250..85039258,3	K562	blood:
7	chr1:85035171..85039138-chr1:85044940..85048929,5	K562	blood:

Variant related genes	Relation type
ENSG00000162616	Chromatin interaction
ENSG00000122432	Chromatin interaction
ENSG00000174021	Chromatin interaction
ENSG00000117151	Chromatin interaction
ENSG00000273338	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10493752	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs11164000	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11164004	0.90[ASN][1000 genomes]
rs11164005	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs12119873	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12123470	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12127160	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12137275	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12140532	0.90[ASN][1000 genomes]
rs12141472	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12145771	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1517601	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1517602	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs15911	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs17374628	0.90[ASN][1000 genomes]
rs17374941	0.81[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs1914477	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2303307	0.87[CEU][hapmap];0.87[EUR][1000 genomes]
rs2911591	0.87[EUR][1000 genomes]
rs2911594	0.91[EUR][1000 genomes]
rs2911599	0.82[CEU][hapmap]
rs2994948	0.93[CEU][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs41299545	0.87[EUR][1000 genomes]
rs4356070	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4907080	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs7517756	0.89[AMR][1000 genomes];0.83[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	nsv1000325	chr1:85032605-85100748	Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:84991000-85038200	Weak transcription	Thymus	Thymus
2	chr1:84992400-85038800	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr1:84998600-85038800	Weak transcription	Right Ventricle	heart
4	chr1:85002000-85038400	Weak transcription	Aorta	Aorta
5	chr1:85006600-85038600	Weak transcription	Stomach Smooth Muscle	stomach
6	chr1:85007200-85038600	Weak transcription	Rectal Smooth Muscle	rectum
7	chr1:85008800-85039000	Weak transcription	Fetal Brain Male	brain
8	chr1:85014800-85039600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr1:85017400-85039600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr1:85019200-85038400	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr1:85022000-85038800	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr1:85024800-85038800	Weak transcription	Brain Angular Gyrus	brain
13	chr1:85025600-85038800	Weak transcription	HSMMtube	muscle
14	chr1:85025800-85038800	Weak transcription	Brain Substantia Nigra	brain
15	chr1:85025800-85038800	Weak transcription	Fetal Heart	heart
16	chr1:85026200-85038800	Weak transcription	Brain Cingulate Gyrus	brain
17	chr1:85027200-85038600	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr1:85027400-85037600	Weak transcription	HepG2	liver
19	chr1:85027800-85038600	Weak transcription	Fetal Kidney	kidney
20	chr1:85028000-85038600	Weak transcription	Fetal Lung	lung
21	chr1:85028200-85038800	Weak transcription	Brain Hippocampus Middle	brain
22	chr1:85028200-85038800	Weak transcription	HSMM	muscle
23	chr1:85028800-85039600	Weak transcription	Gastric	stomach
24	chr1:85029000-85038800	Weak transcription	A549	lung
25	chr1:85029200-85038600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr1:85029600-85038600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr1:85030800-85038800	Weak transcription	Fetal Stomach	stomach
28	chr1:85031000-85038200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr1:85031200-85038600	Weak transcription	Brain Anterior Caudate	brain
30	chr1:85032200-85038600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr1:85032800-85038600	Weak transcription	Psoas Muscle	Psoas
32	chr1:85034000-85038800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr1:85034600-85039400	Weak transcription	Esophagus	oesophagus
34	chr1:85035200-85038400	Weak transcription	Spleen	Spleen
35	chr1:85035400-85037600	Weak transcription	Fetal Intestine Large	intestine
36	chr1:85035400-85038400	Weak transcription	Adipose Nuclei	Adipose
37	chr1:85035400-85038400	Weak transcription	Fetal Thymus	thymus
38	chr1:85035400-85038400	Weak transcription	Left Ventricle	heart
39	chr1:85035400-85038600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr1:85035400-85038600	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr1:85035400-85038800	Weak transcription	Fetal Muscle Leg	muscle
42	chr1:85035400-85039200	Weak transcription	Lung	lung
43	chr1:85035400-85039400	Weak transcription	Fetal Muscle Trunk	muscle
44	chr1:85035400-85039400	Weak transcription	Pancreas	Pancrea
45	chr1:85035800-85038200	Weak transcription	Primary T cells fromperipheralblood	blood
46	chr1:85036000-85038400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr1:85036000-85038400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr1:85036200-85037600	Enhancers	NHDF-Ad	bronchial
49	chr1:85036200-85038200	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr1:85036200-85038200	Weak transcription	Primary hematopoietic stem cells	blood

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