Variant report

Variant	rs12118221
Chromosome Location	chr1:61671468-61671469
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:61670954..61672679-chr1:61702027..61704538,2	K562	blood:
2	chr1:61665981..61668417-chr1:61670915..61673753,3	K562	blood:
3	chr1:61670979..61672695-chr1:61676569..61678337,2	K562	blood:
4	chr1:61542290..61543859-chr1:61670044..61672792,2	K562	blood:

Variant related genes	Relation type
ENSG00000162599	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs182823	1.00[CHB][hapmap];0.93[JPT][hapmap];0.91[ASN][1000 genomes]
rs332818	0.87[TSI][hapmap]
rs332819	1.00[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.87[TSI][hapmap];0.99[ASN][1000 genomes]
rs332821	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs332822	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.99[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs332824	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.99[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs332825	1.00[ASN][1000 genomes]
rs332826	1.00[ASN][1000 genomes]
rs459997	0.99[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs464113	1.00[ASN][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	nsv1008634	chr1:61613785-61671468	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:61664600-61672600	Weak transcription	Left Ventricle	heart
2	chr1:61664600-61678400	Weak transcription	Fetal Muscle Trunk	muscle
3	chr1:61664800-61679200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr1:61665000-61672000	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr1:61665000-61683800	Weak transcription	Brain Germinal Matrix	brain
6	chr1:61667600-61674200	Weak transcription	HUVEC	blood vessel
7	chr1:61669200-61681400	Weak transcription	Stomach Smooth Muscle	stomach
8	chr1:61669200-61685800	Weak transcription	Fetal Brain Female	brain
9	chr1:61669200-61692400	Weak transcription	Fetal Muscle Leg	muscle
10	chr1:61669400-61672400	Weak transcription	Brain Cingulate Gyrus	brain
11	chr1:61669400-61673200	Weak transcription	Aorta	Aorta
12	chr1:61669400-61673600	Weak transcription	Brain Substantia Nigra	brain
13	chr1:61669400-61673800	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr1:61669400-61674000	Weak transcription	Fetal Brain Male	brain
15	chr1:61669400-61674400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr1:61669400-61676400	Weak transcription	Rectal Smooth Muscle	rectum
17	chr1:61669400-61678400	Weak transcription	NHEK	skin
18	chr1:61669400-61679400	Weak transcription	Pancreas	Pancrea
19	chr1:61669400-61683800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr1:61669400-61691800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr1:61669600-61673600	Weak transcription	Fetal Lung	lung
22	chr1:61669600-61675800	Weak transcription	Brain Angular Gyrus	brain
23	chr1:61669600-61685800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr1:61669600-61686000	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr1:61669600-61692400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr1:61669800-61672400	Weak transcription	Brain Anterior Caudate	brain
27	chr1:61669800-61674600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr1:61669800-61675800	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr1:61669800-61678400	Weak transcription	Adipose Nuclei	Adipose
30	chr1:61670000-61673400	Weak transcription	Colon Smooth Muscle	Colon
31	chr1:61670000-61677400	Weak transcription	Fetal Stomach	stomach
32	chr1:61670200-61673000	Weak transcription	HepG2	liver
33	chr1:61670400-61681400	Weak transcription	Ovary	ovary
34	chr1:61670800-61672400	Weak transcription	Brain Hippocampus Middle	brain
35	chr1:61670800-61680400	Weak transcription	Fetal Intestine Small	intestine
36	chr1:61671200-61671600	Enhancers	Psoas Muscle	Psoas
37	chr1:61671200-61683200	Weak transcription	K562	blood
38	chr1:61671400-61672600	Weak transcription	Liver	Liver

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