Variant report

Variant	rs55720942
Chromosome Location	chr1:165741615-165741616
allele	A/G
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:165735886..165744990-chr1:165791702..165805629,42	K562	blood:
2	chr1:165739737..165742477-chr1:165760188..165762822,2	K562	blood:
3	chr1:165736523..165741866-chr1:165791420..165802380,26	K562	blood:
4	chr1:165736117..165742504-chr1:165795129..165799551,11	MCF-7	breast:
5	chr1:165739953..165741791-chr1:165806314..165808597,2	K562	blood:
6	chr1:165740929..165742597-chr1:165810397..165813179,2	K562	blood:
7	chr1:165738416..165740684-chr1:165740883..165742513,2	MCF-7	breast:
8	chr1:165740871..165743661-chr1:198569825..198571369,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000143183	Chromatin interaction
ENSG00000143179	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs55767704	0.81[AFR][1000 genomes]
rs57827034	0.89[AFR][1000 genomes]
rs59334279	1.00[AFR][1000 genomes]
rs73014656	0.85[AFR][1000 genomes]
rs73014658	0.85[AFR][1000 genomes]
rs73014662	1.00[AFR][1000 genomes]
rs73014663	1.00[AFR][1000 genomes]
rs73014665	1.00[AFR][1000 genomes]
rs73014669	1.00[AFR][1000 genomes]
rs73016628	0.84[AFR][1000 genomes]
rs73016629	0.84[AFR][1000 genomes]
rs73016631	0.84[AFR][1000 genomes]
rs73016633	0.84[AFR][1000 genomes]
rs73016634	0.84[AFR][1000 genomes]
rs73016640	0.84[AFR][1000 genomes]
rs73016641	0.84[AFR][1000 genomes]
rs74121499	0.84[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	nsv518886	chr1:165714187-165741646	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:165738800-165744800	Weak transcription	Spleen	Spleen
2	chr1:165738800-165745200	Weak transcription	Gastric	stomach
3	chr1:165739000-165745000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr1:165739000-165745200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr1:165739200-165742600	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr1:165739200-165742600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr1:165739200-165742800	Weak transcription	Brain Angular Gyrus	brain
8	chr1:165739200-165742800	Weak transcription	Fetal Stomach	stomach
9	chr1:165739200-165743200	Weak transcription	Brain Germinal Matrix	brain
10	chr1:165739200-165743200	Weak transcription	Placenta	Placenta
11	chr1:165739200-165743200	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr1:165739200-165743200	Weak transcription	Thymus	Thymus
13	chr1:165739200-165744600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr1:165739200-165744800	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr1:165739200-165745200	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr1:165739200-165745400	Weak transcription	Brain Anterior Caudate	brain
17	chr1:165739200-165745400	Weak transcription	Right Ventricle	heart
18	chr1:165739200-165745600	Weak transcription	Fetal Intestine Small	intestine
19	chr1:165739200-165745600	Weak transcription	Lung	lung
20	chr1:165739200-165746000	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr1:165739400-165741800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr1:165739400-165742200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr1:165739400-165742600	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr1:165739400-165742800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr1:165739400-165742800	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr1:165739400-165742800	Weak transcription	Brain Substantia Nigra	brain
27	chr1:165739400-165742800	Weak transcription	Esophagus	oesophagus
28	chr1:165739400-165743600	Weak transcription	Small Intestine	intestine
29	chr1:165739400-165744400	Weak transcription	Left Ventricle	heart
30	chr1:165739400-165744600	Weak transcription	Primary B cells from cord blood	blood
31	chr1:165739400-165744800	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr1:165739400-165744800	Weak transcription	Fetal Lung	lung
33	chr1:165739400-165745600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr1:165739600-165741800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr1:165739600-165742000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr1:165739600-165742000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr1:165739600-165742000	Weak transcription	HepG2	liver
38	chr1:165739600-165742000	Weak transcription	HUVEC	blood vessel
39	chr1:165739600-165742600	Weak transcription	Primary B cells from peripheral blood	blood
40	chr1:165739600-165742600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr1:165739600-165742600	Weak transcription	Fetal Muscle Trunk	muscle
42	chr1:165739600-165742800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr1:165739600-165742800	Weak transcription	Adipose Nuclei	Adipose
44	chr1:165739600-165742800	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr1:165739600-165743200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr1:165739600-165743400	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr1:165739600-165743400	Weak transcription	Primary hematopoietic stem cells	blood
48	chr1:165739600-165744200	Weak transcription	Aorta	Aorta
49	chr1:165739600-165744600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr1:165739600-165744600	Weak transcription	Fetal Brain Male	brain

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