Variant report

Variant	rs60415933
Chromosome Location	chr1:165832987-165832988
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:165796425..165798673-chr1:165831080..165836072,5	K562	blood:

Variant related genes	Relation type
ENSG00000143183	Chromatin interaction
ENSG00000143179	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11802488	1.00[EUR][1000 genomes]
rs12062043	1.00[EUR][1000 genomes]
rs12079130	1.00[EUR][1000 genomes]
rs16853251	1.00[EUR][1000 genomes]
rs16855432	1.00[ASN][1000 genomes]
rs1768902	1.00[EUR][1000 genomes]
rs28522870	1.00[EUR][1000 genomes]
rs522854	1.00[EUR][1000 genomes]
rs56759706	1.00[ASN][1000 genomes]
rs58675136	1.00[ASN][1000 genomes]
rs59910558	1.00[ASN][1000 genomes]
rs61024132	1.00[ASN][1000 genomes]
rs6681589	1.00[ASN][1000 genomes]
rs74118937	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2756102	chr1:165652342-165877342	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	esv2830094	chr1:165785503-165840411	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	31 gene(s)	inside rSNPs	diseases
3	esv2755529	chr1:165813862-165858354	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv437246	chr1:165822891-165860813	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:165823600-165833000	Weak transcription	Hela-S3	cervix
2	chr1:165823600-165834000	Weak transcription	Aorta	Aorta
3	chr1:165823600-165834600	Weak transcription	Fetal Stomach	stomach
4	chr1:165823800-165838000	Weak transcription	Fetal Lung	lung
5	chr1:165823800-165840200	Weak transcription	HUVEC	blood vessel
6	chr1:165825400-165839800	Weak transcription	Primary B cells from cord blood	blood
7	chr1:165825600-165837800	Weak transcription	Fetal Brain Female	brain
8	chr1:165826400-165835000	Genic enhancers	Dnd41	blood
9	chr1:165826600-165840600	Weak transcription	NH-A	brain
10	chr1:165827000-165834200	Weak transcription	Osteobl	bone
11	chr1:165827800-165834600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr1:165827800-165840600	Weak transcription	NHLF	lung
13	chr1:165828000-165847200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr1:165828000-165849200	Weak transcription	Fetal Muscle Trunk	muscle
15	chr1:165828200-165833000	Enhancers	Duodenum Mucosa	Duodenum
16	chr1:165828200-165836800	Weak transcription	NHDF-Ad	bronchial
17	chr1:165828200-165843400	Weak transcription	NHEK	skin
18	chr1:165828400-165834000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:165829200-165838400	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr1:165829200-165840200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr1:165829400-165843000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr1:165829600-165834800	Weak transcription	HepG2	liver
23	chr1:165829600-165840200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr1:165829600-165840600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr1:165829600-165840600	Weak transcription	Esophagus	oesophagus
26	chr1:165830000-165833000	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr1:165830400-165833600	Enhancers	Fetal Thymus	thymus
28	chr1:165830400-165834800	Weak transcription	Small Intestine	intestine
29	chr1:165831000-165833000	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr1:165831000-165833000	Enhancers	Thymus	Thymus
31	chr1:165831000-165833200	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr1:165831200-165833000	Enhancers	Brain Inferior Temporal Lobe	brain
33	chr1:165831200-165833000	Enhancers	Brain Substantia Nigra	brain
34	chr1:165831400-165833000	Enhancers	Primary hematopoietic stem cells	blood
35	chr1:165831400-165833000	Enhancers	Brain Angular Gyrus	brain
36	chr1:165831400-165837400	Weak transcription	Fetal Intestine Small	intestine
37	chr1:165831600-165834600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr1:165831600-165835000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr1:165831600-165837000	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr1:165831600-165838200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr1:165831600-165843000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr1:165831800-165833000	Enhancers	GM12878-XiMat	blood
43	chr1:165831800-165834600	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr1:165831800-165834600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr1:165831800-165837600	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr1:165832000-165834000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr1:165832000-165834200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr1:165832000-165834600	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr1:165832000-165834600	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr1:165832000-165840200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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