Variant report

Variant	rs61821058
Chromosome Location	chr1:176156894-176156895
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:176156157..176159032-chr1:176159209..176161354,2	K562	blood:
2	chr1:176156354..176160388-chr1:176161822..176166089,4	K562	blood:

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs12402588	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12403164	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12408191	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12409154	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs16849609	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17351760	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs17351774	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs17354043	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4265393	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4292913	0.81[AMR][1000 genomes]
rs4497165	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4498761	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs55815340	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56346636	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs57729493	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs58539711	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs59540069	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs59801736	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs60630667	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs61820936	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs61820954	0.83[AMR][1000 genomes]
rs61820962	0.85[AMR][1000 genomes]
rs61820963	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs61820964	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs61820966	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs61820969	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs61820971	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs61820976	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs61821005	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61821006	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61821032	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61821033	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61821035	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61821055	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61821059	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61822660	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61822661	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61822663	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61822765	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs61822766	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs61822768	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs74127162	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7553673	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][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	esv1823794	chr1:175869554-176311778	Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv872563	chr1:175949646-176184625	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv872565	chr1:176058782-176172795	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:176110600-176164000	Weak transcription	NHLF	lung
2	chr1:176126400-176168800	Weak transcription	Small Intestine	intestine
3	chr1:176127000-176174000	Weak transcription	Colon Smooth Muscle	Colon
4	chr1:176128000-176157800	Weak transcription	Spleen	Spleen
5	chr1:176128000-176175200	Weak transcription	Esophagus	oesophagus
6	chr1:176137400-176173000	Weak transcription	Right Ventricle	heart
7	chr1:176140000-176157800	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr1:176140000-176168200	Weak transcription	Psoas Muscle	Psoas
9	chr1:176142800-176157800	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr1:176142800-176162200	Weak transcription	HepG2	liver
11	chr1:176143000-176165800	Weak transcription	Lung	lung
12	chr1:176144000-176172800	Weak transcription	HMEC	breast
13	chr1:176144400-176158200	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr1:176144400-176170800	Weak transcription	K562	blood
15	chr1:176144400-176173400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr1:176144600-176168600	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr1:176144800-176164600	Weak transcription	NHDF-Ad	bronchial
18	chr1:176144800-176172800	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr1:176145000-176173200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr1:176146000-176171400	Weak transcription	Left Ventricle	heart
21	chr1:176146000-176173000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr1:176147600-176157400	Weak transcription	Fetal Intestine Large	intestine
23	chr1:176147600-176161200	Weak transcription	HUVEC	blood vessel
24	chr1:176149600-176157200	Weak transcription	Brain Hippocampus Middle	brain
25	chr1:176150400-176158000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr1:176150600-176173000	Weak transcription	Hela-S3	cervix
27	chr1:176151600-176160000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr1:176151800-176173000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr1:176152000-176159200	Weak transcription	Liver	Liver
30	chr1:176152000-176168800	Weak transcription	Primary B cells from cord blood	blood
31	chr1:176152000-176168800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr1:176152000-176173000	Weak transcription	Thymus	Thymus
33	chr1:176153000-176161000	Weak transcription	Adipose Nuclei	Adipose
34	chr1:176153000-176161200	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr1:176153000-176162400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr1:176153200-176165800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr1:176153200-176173000	Weak transcription	Primary hematopoietic stem cells	blood
38	chr1:176153600-176157400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr1:176153600-176157800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr1:176153600-176161200	Weak transcription	Primary T cells from cord blood	blood
41	chr1:176153600-176169600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr1:176153600-176173000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr1:176153600-176173000	Weak transcription	HSMM	muscle
44	chr1:176153800-176157600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr1:176153800-176157600	Weak transcription	GM12878-XiMat	blood
46	chr1:176153800-176157800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr1:176153800-176166200	Weak transcription	Dnd41	blood
48	chr1:176154200-176160200	Weak transcription	Monocytes-CD14+_RO01746	blood
49	chr1:176154400-176158400	Enhancers	Primary T helper cells fromperipheralblood	blood
50	chr1:176154600-176158200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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