Variant report

Variant	rs11587254
Chromosome Location	chr1:176153566-176153567
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:176153551..176156175-chr1:176174165..176176640,2	K562	blood:
2	chr1:176152191..176153784-chr1:176176220..176178304,2	K562	blood:

Variant related genes	Relation type
ENSG00000236021	Chromatin interaction
ENSG00000143207	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10494499	1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11576373	1.00[AFR][1000 genomes]
rs11577069	0.81[EUR][1000 genomes]
rs11579181	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];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]
rs11584179	1.00[AFR][1000 genomes]
rs11586568	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11587051	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11587785	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];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[CEU][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11590045	1.00[AMR][1000 genomes]
rs12403794	1.00[ASN][1000 genomes]
rs17351808	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs17351933	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17352072	0.86[ASN][1000 genomes]
rs17354252	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2861630	1.00[JPT][hapmap]
rs4460596	1.00[JPT][hapmap]
rs4652143	0.87[CEU][hapmap];0.85[TSI][hapmap]
rs56125427	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56192244	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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]
rs704833	0.85[TSI][hapmap]
rs74127185	1.00[ASN][1000 genomes]
rs7554913	1.00[CHD][hapmap];1.00[JPT][hapmap]

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:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:176065600-176154800	Weak transcription	Aorta	Aorta
2	chr1:176110600-176164000	Weak transcription	NHLF	lung
3	chr1:176126400-176168800	Weak transcription	Small Intestine	intestine
4	chr1:176127000-176174000	Weak transcription	Colon Smooth Muscle	Colon
5	chr1:176127400-176155400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr1:176128000-176157800	Weak transcription	Spleen	Spleen
7	chr1:176128000-176175200	Weak transcription	Esophagus	oesophagus
8	chr1:176128400-176154600	Weak transcription	Rectal Smooth Muscle	rectum
9	chr1:176128600-176155600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr1:176128800-176154200	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr1:176132200-176154200	Weak transcription	NH-A	brain
12	chr1:176137400-176173000	Weak transcription	Right Ventricle	heart
13	chr1:176138200-176155800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr1:176138800-176155400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr1:176139000-176153800	Strong transcription	Dnd41	blood
16	chr1:176140000-176155800	Weak transcription	Fetal Brain Female	brain
17	chr1:176140000-176157800	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr1:176140000-176168200	Weak transcription	Psoas Muscle	Psoas
19	chr1:176140800-176153600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr1:176140800-176155800	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr1:176142200-176154400	Weak transcription	Fetal Kidney	kidney
22	chr1:176142800-176157800	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr1:176142800-176162200	Weak transcription	HepG2	liver
24	chr1:176143000-176165800	Weak transcription	Lung	lung
25	chr1:176144000-176172800	Weak transcription	HMEC	breast
26	chr1:176144200-176155600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr1:176144400-176158200	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr1:176144400-176170800	Weak transcription	K562	blood
29	chr1:176144400-176173400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr1:176144600-176168600	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr1:176144800-176154600	Weak transcription	Brain Germinal Matrix	brain
32	chr1:176144800-176155000	Weak transcription	Ovary	ovary
33	chr1:176144800-176164600	Weak transcription	NHDF-Ad	bronchial
34	chr1:176144800-176172800	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr1:176145000-176173200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr1:176146000-176154400	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr1:176146000-176155800	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr1:176146000-176171400	Weak transcription	Left Ventricle	heart
39	chr1:176146000-176173000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr1:176147400-176153600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr1:176147600-176157400	Weak transcription	Fetal Intestine Large	intestine
42	chr1:176147600-176161200	Weak transcription	HUVEC	blood vessel
43	chr1:176147800-176155400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr1:176148000-176156600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr1:176148200-176153600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr1:176148200-176153600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr1:176148200-176153800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr1:176148800-176154600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr1:176149200-176153600	Strong transcription	Rectal Mucosa Donor 31	rectum
50	chr1:176149200-176154000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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