Variant report

Variant	rs61802906
Chromosome Location	chr1:165799719-165799720
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:165685761..165688091-chr1:165797394..165800120,2	K562	blood:
2	chr1:165798053..165799867-chr1:165811993..165814835,2	MCF-7	breast:
3	chr1:165735886..165744990-chr1:165791702..165805629,42	K562	blood:
4	chr1:165667556..165669480-chr1:165798614..165800246,2	K562	blood:
5	chr1:165797327..165800051-chr1:165876668..165879627,3	MCF-7	breast:
6	chr1:165733730..165736417-chr1:165798667..165800425,2	K562	blood:
7	chr1:165798709..165800702-chr6:26239289..26241961,2	MCF-7	breast:
8	chr1:165598807..165601582-chr1:165797127..165800019,4	K562	blood:
9	chr1:165736523..165741866-chr1:165791420..165802380,26	K562	blood:

No data

Variant related genes	Relation type
ENSG00000143149	Chromatin interaction
ENSG00000143198	Chromatin interaction
ENSG00000224358	Chromatin interaction
ENSG00000143183	Chromatin interaction
ENSG00000198327	Chromatin interaction
ENSG00000215838	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs10800160	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56108418	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv1011720	chr1:165669589-165802516	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv517792	chr1:165785503-165811729	Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	31 gene(s)	inside rSNPs	diseases
4	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
5	nsv818544	chr1:165797966-165811729	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases
6	nsv548097	chr1:165797966-165825166	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:165796400-165800000	Active TSS	Psoas Muscle	Psoas
2	chr1:165798400-165802200	Weak transcription	Left Ventricle	heart
3	chr1:165798600-165801000	Transcr. at gene 5' and 3'	Dnd41	blood
4	chr1:165798600-165802200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:165798600-165811000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr1:165798800-165801600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr1:165798800-165802200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr1:165798800-165802400	Weak transcription	Lung	lung
9	chr1:165798800-165802600	Weak transcription	Ovary	ovary
10	chr1:165798800-165811000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:165798800-165811000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr1:165798800-165811400	Weak transcription	Esophagus	oesophagus
13	chr1:165798800-165811800	Weak transcription	Primary B cells from cord blood	blood
14	chr1:165798800-165814200	Weak transcription	Fetal Muscle Trunk	muscle
15	chr1:165799000-165799800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr1:165799000-165800200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr1:165799000-165800600	Enhancers	Fetal Brain Male	brain
18	chr1:165799000-165802000	Weak transcription	Thymus	Thymus
19	chr1:165799000-165802200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr1:165799000-165802200	Weak transcription	Right Atrium	heart
21	chr1:165799000-165802200	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr1:165799000-165804000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr1:165799000-165805800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr1:165799000-165807600	Weak transcription	Fetal Lung	lung
25	chr1:165799000-165810600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr1:165799000-165811000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr1:165799000-165811200	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr1:165799000-165811800	Weak transcription	Colon Smooth Muscle	Colon
29	chr1:165799000-165811800	Weak transcription	Fetal Intestine Large	intestine
30	chr1:165799000-165811800	Weak transcription	Fetal Stomach	stomach
31	chr1:165799000-165818200	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr1:165799200-165801400	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr1:165799200-165801400	Weak transcription	A549	lung
34	chr1:165799200-165801600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr1:165799200-165801800	Weak transcription	Fetal Intestine Small	intestine
36	chr1:165799200-165802000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr1:165799200-165802200	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr1:165799200-165802200	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr1:165799200-165802200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr1:165799200-165802400	Weak transcription	NHDF-Ad	bronchial
41	chr1:165799200-165805800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr1:165799200-165805800	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr1:165799200-165806600	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr1:165799200-165811000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr1:165799200-165811400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr1:165799200-165811400	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr1:165799200-165811600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr1:165799200-165815800	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr1:165799400-165799800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr1:165799400-165800200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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