Variant report

Variant	rs11801981
Chromosome Location	chr1:165569268-165569269
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:165569088..165572600-chr1:165598003..165601699,3	K562	blood:
2	chr1:165567791..165570618-chr1:165797003..165798586,2	K562	blood:
3	chr1:165568647..165571505-chr1:165795399..165798198,2	MCF-7	breast:
4	chr1:165569014..165571063-chr1:165883495..165885234,2	K562	blood:

Variant related genes	Relation type
ENSG00000143198	Chromatin interaction
ENSG00000143179	Chromatin interaction
ENSG00000143183	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10800127	1.00[CHB][hapmap]
rs11506	1.00[CHB][hapmap]
rs11799886	1.00[JPT][hapmap]
rs11799903	1.00[JPT][hapmap]
rs11800476	1.00[CHB][hapmap]
rs11801044	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11802672	1.00[ASN][1000 genomes]
rs11803276	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11806754	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs16847487	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs16847544	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4626863	0.85[CEU][hapmap]
rs57058706	0.80[AMR][1000 genomes]
rs57256442	0.89[ASN][1000 genomes]
rs58045866	1.00[ASN][1000 genomes]
rs59033716	1.00[ASN][1000 genomes]
rs61557603	0.89[ASN][1000 genomes]
rs61800371	0.80[AMR][1000 genomes]
rs61804068	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61804069	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6682771	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6686643	1.00[JPT][hapmap]
rs6693448	0.92[CEU][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes]
rs6695758	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72696026	1.00[ASN][1000 genomes]
rs72696027	1.00[ASN][1000 genomes]
rs72696028	1.00[ASN][1000 genomes]
rs72696029	1.00[ASN][1000 genomes]
rs7516587	0.85[CEU][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes]
rs7524970	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7549530	0.85[CEU][hapmap]
rs7550682	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7554034	1.00[JPT][hapmap]
rs9333378	1.00[JPT][hapmap]
rs9333464	1.00[JPT][hapmap]
rs9333471	1.00[JPT][hapmap]
rs959617	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv429902	chr1:165531342-165574342	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:165568000-165572800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:165568000-165574800	Weak transcription	Right Atrium	heart
3	chr1:165568200-165569800	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr1:165568200-165569800	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr1:165568200-165569800	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr1:165568200-165570000	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr1:165568200-165570200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr1:165568200-165570200	Weak transcription	Placenta	Placenta
9	chr1:165568200-165570400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr1:165568200-165570600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr1:165568200-165570600	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr1:165568200-165570600	Weak transcription	Brain Hippocampus Middle	brain
13	chr1:165568200-165570600	Weak transcription	Stomach Mucosa	stomach
14	chr1:165568200-165570800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr1:165568200-165570800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr1:165568200-165570800	Weak transcription	Primary B cells from peripheral blood	blood
17	chr1:165568200-165570800	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr1:165568200-165570800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr1:165568200-165570800	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr1:165568200-165570800	Weak transcription	Brain Substantia Nigra	brain
21	chr1:165568200-165570800	Weak transcription	Colon Smooth Muscle	Colon
22	chr1:165568200-165570800	Weak transcription	Fetal Heart	heart
23	chr1:165568200-165570800	Weak transcription	Fetal Intestine Small	intestine
24	chr1:165568200-165571000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr1:165568200-165571000	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr1:165568200-165571000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr1:165568200-165571000	Enhancers	HepG2	liver
28	chr1:165568200-165579600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr1:165568400-165570000	Weak transcription	K562	blood
30	chr1:165568400-165570800	Weak transcription	Adipose Nuclei	Adipose
31	chr1:165568400-165570800	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr1:165568400-165570800	Weak transcription	A549	lung
33	chr1:165568400-165570800	Weak transcription	Hela-S3	cervix
34	chr1:165568600-165569800	Weak transcription	Duodenum Mucosa	Duodenum
35	chr1:165568600-165570000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr1:165568600-165570800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr1:165568600-165570800	Weak transcription	Brain Anterior Caudate	brain
38	chr1:165568600-165570800	Weak transcription	GM12878-XiMat	blood
39	chr1:165568600-165571000	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr1:165568600-165571000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr1:165568600-165571000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr1:165568800-165570800	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr1:165568800-165570800	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr1:165569000-165571000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr1:165569000-165571200	Weak transcription	Osteobl	bone
46	chr1:165569200-165569600	Weak transcription	Liver	Liver

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