Variant report

Variant	rs56192244
Chromosome Location	chr1:176152182-176152183
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:176149132..176153011-chr1:176153714..176156384,3	K562	blood:
2	chr1:176150222..176152761-chr1:176157686..176160252,3	K562	blood:

Variant related genes	Relation type
ENSG00000143207	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10494499	1.00[ASN][1000 genomes]
rs11577069	0.81[EUR][1000 genomes]
rs11579181	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11579291	0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11583071	0.93[AMR][1000 genomes]
rs11583207	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11583765	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11583991	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11586568	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11587051	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11587254	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11587785	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11588361	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11588480	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11590045	1.00[AMR][1000 genomes]
rs12403794	1.00[ASN][1000 genomes]
rs17351933	1.00[ASN][1000 genomes]
rs17352072	0.86[ASN][1000 genomes]
rs17354252	1.00[ASN][1000 genomes]
rs56125427	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56943475	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61821028	1.00[ASN][1000 genomes]
rs61822662	0.86[ASN][1000 genomes]
rs74127185	1.00[ASN][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:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:176065600-176154800	Weak transcription	Aorta	Aorta
2	chr1:176100800-176153200	Weak transcription	Colonic Mucosa	Colon
3	chr1:176110600-176164000	Weak transcription	NHLF	lung
4	chr1:176126400-176168800	Weak transcription	Small Intestine	intestine
5	chr1:176127000-176174000	Weak transcription	Colon Smooth Muscle	Colon
6	chr1:176127200-176153400	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr1:176127400-176153400	Weak transcription	Stomach Smooth Muscle	stomach
8	chr1:176127400-176155400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr1:176128000-176157800	Weak transcription	Spleen	Spleen
10	chr1:176128000-176175200	Weak transcription	Esophagus	oesophagus
11	chr1:176128400-176154600	Weak transcription	Rectal Smooth Muscle	rectum
12	chr1:176128600-176155600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr1:176128800-176152800	Weak transcription	Brain Cingulate Gyrus	brain
14	chr1:176128800-176152800	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr1:176128800-176154200	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr1:176132200-176154200	Weak transcription	NH-A	brain
17	chr1:176134400-176152800	Weak transcription	Brain Angular Gyrus	brain
18	chr1:176137400-176173000	Weak transcription	Right Ventricle	heart
19	chr1:176138200-176155800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr1:176138800-176155400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr1:176139000-176153800	Strong transcription	Dnd41	blood
22	chr1:176139800-176152600	Weak transcription	Brain Anterior Caudate	brain
23	chr1:176140000-176155800	Weak transcription	Fetal Brain Female	brain
24	chr1:176140000-176157800	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr1:176140000-176168200	Weak transcription	Psoas Muscle	Psoas
26	chr1:176140200-176152200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr1:176140800-176153600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr1:176140800-176155800	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr1:176142200-176153400	Weak transcription	Fetal Heart	heart
30	chr1:176142200-176154400	Weak transcription	Fetal Kidney	kidney
31	chr1:176142800-176157800	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr1:176142800-176162200	Weak transcription	HepG2	liver
33	chr1:176143000-176153000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr1:176143000-176165800	Weak transcription	Lung	lung
35	chr1:176143600-176152400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr1:176143800-176153200	Weak transcription	HSMMtube	muscle
37	chr1:176144000-176172800	Weak transcription	HMEC	breast
38	chr1:176144200-176155600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr1:176144400-176152200	Weak transcription	NHEK	skin
40	chr1:176144400-176158200	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr1:176144400-176170800	Weak transcription	K562	blood
42	chr1:176144400-176173400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr1:176144600-176168600	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr1:176144800-176154600	Weak transcription	Brain Germinal Matrix	brain
45	chr1:176144800-176155000	Weak transcription	Ovary	ovary
46	chr1:176144800-176164600	Weak transcription	NHDF-Ad	bronchial
47	chr1:176144800-176172800	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr1:176145000-176173200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr1:176146000-176152200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr1:176146000-176154400	Weak transcription	Skeletal Muscle Female	skeletal muscle

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