Variant report

Variant	rs4654022
Chromosome Location	chr1:224515776-224515777
allele	A/C
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	chr1:224515424..224519366-chr1:224544067..224546170,3	K562	blood:
2	chr1:224514132..224518075-chr1:224542843..224545822,3	K562	blood:
3	chr1:224299141..224303224-chr1:224514971..224520507,6	MCF-7	breast:
4	chr1:224301491..224304269-chr1:224515082..224517266,2	K562	blood:
5	chr1:224512775..224515913-chr1:224516088..224519079,4	K562	blood:
6	chr1:224510182..224512901-chr1:224513960..224516440,2	K562	blood:
7	chr1:224301216..224303713-chr1:224515346..224517425,2	K562	blood:
8	chr1:224509313..224513454-chr1:224513971..224516940,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000143756	Chromatin interaction
ENSG00000143771	Chromatin interaction
ENSG00000143748	Chromatin interaction

Extended variants
information (count: 98 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:95)

rs_ID	r²[population]
rs10158063	0.87[ASN][1000 genomes]
rs10733024	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10737442	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10737443	0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10753462	1.00[CEU][hapmap];0.90[CHB][hapmap];0.82[JPT][hapmap];0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10753464	0.90[CHB][hapmap];0.98[ASN][1000 genomes]
rs10799562	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[ASN][1000 genomes]
rs10799563	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10799566	0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10799567	0.98[ASN][1000 genomes]
rs10799568	0.96[ASN][1000 genomes]
rs10916577	0.83[ASN][1000 genomes]
rs10916585	0.89[CHB][hapmap];0.82[JPT][hapmap];0.84[YRI][hapmap];0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11802486	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11811730	0.98[ASN][1000 genomes]
rs16846031	0.89[CHB][hapmap];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16846094	0.90[CHB][hapmap];0.82[JPT][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16846214	0.89[CHB][hapmap];0.82[JPT][hapmap];1.00[ASN][1000 genomes]
rs16846244	0.90[CHB][hapmap];0.82[JPT][hapmap];1.00[ASN][1000 genomes]
rs1806742	0.90[CHB][hapmap];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2001712	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2001713	0.82[EUR][1000 genomes]
rs2404783	1.00[CHB][hapmap];0.82[JPT][hapmap];1.00[ASN][1000 genomes]
rs2404856	0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2404857	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2404858	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2404859	1.00[ASN][1000 genomes]
rs2404861	0.90[CHB][hapmap];0.82[JPT][hapmap];0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2405062	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2405065	0.89[CHB][hapmap];0.98[ASN][1000 genomes]
rs2405067	0.98[ASN][1000 genomes]
rs2405070	0.95[ASN][1000 genomes]
rs2896990	0.89[CHB][hapmap];0.82[JPT][hapmap];1.00[ASN][1000 genomes]
rs2896992	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2897054	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3754090	0.89[CHB][hapmap];0.82[JPT][hapmap];1.00[ASN][1000 genomes]
rs3767721	0.88[CHB][hapmap];0.82[JPT][hapmap];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3767722	0.89[CHB][hapmap];0.82[JPT][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3767723	0.89[CHB][hapmap];0.82[JPT][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3767724	1.00[ASN][1000 genomes]
rs3767725	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4146965	0.90[CHB][hapmap];0.82[JPT][hapmap];1.00[ASN][1000 genomes]
rs4146966	0.89[CHB][hapmap];0.82[JPT][hapmap];1.00[ASN][1000 genomes]
rs4233234	0.89[CHB][hapmap];0.82[JPT][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4233235	0.89[CHB][hapmap];0.82[JPT][hapmap]
rs4256779	0.89[CHB][hapmap];0.98[ASN][1000 genomes]
rs4420060	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4457542	0.98[ASN][1000 genomes]
rs4628473	0.98[ASN][1000 genomes]
rs4653575	1.00[ASN][1000 genomes]
rs4653579	0.89[CHB][hapmap];0.82[JPT][hapmap];0.94[YRI][hapmap];0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4653580	0.89[CHB][hapmap];0.82[JPT][hapmap];0.94[YRI][hapmap];0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4653581	0.89[CHB][hapmap];0.82[JPT][hapmap];1.00[ASN][1000 genomes]
rs4653583	0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4653584	0.89[CHB][hapmap];0.98[ASN][1000 genomes]
rs4654011	0.88[ASN][1000 genomes]
rs4654017	0.89[CHB][hapmap];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4654019	1.00[CEU][hapmap];0.89[CHB][hapmap];0.82[JPT][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4654023	1.00[CEU][hapmap];0.90[CHB][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4654032	0.98[ASN][1000 genomes]
rs4654033	0.98[ASN][1000 genomes]
rs4654034	0.98[ASN][1000 genomes]
rs55675086	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55980628	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57324770	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58855990	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59106681	0.98[ASN][1000 genomes]
rs6426088	0.82[JPT][hapmap];0.91[ASN][1000 genomes]
rs6426094	0.90[CHB][hapmap];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6426100	0.88[CHB][hapmap];0.81[ASN][1000 genomes]
rs6426110	0.90[CHB][hapmap];0.82[JPT][hapmap];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6426114	0.93[ASN][1000 genomes]
rs6426115	0.98[ASN][1000 genomes]
rs6426117	0.96[ASN][1000 genomes]
rs6681790	0.89[CHB][hapmap];0.98[ASN][1000 genomes]
rs6682667	0.89[CHB][hapmap];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6685600	0.98[ASN][1000 genomes]
rs6691689	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6694745	0.89[CHB][hapmap];0.82[JPT][hapmap];1.00[ASN][1000 genomes]
rs6696795	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6699017	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73118046	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73128468	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73130436	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73130448	1.00[ASN][1000 genomes]
rs73130455	1.00[ASN][1000 genomes]
rs73130462	1.00[ASN][1000 genomes]
rs73130464	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7521015	0.89[CHB][hapmap];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7522392	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7529143	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7530205	1.00[ASN][1000 genomes]
rs7534101	0.80[CHB][hapmap];0.98[ASN][1000 genomes]
rs7534447	0.89[CHB][hapmap];0.82[JPT][hapmap];1.00[ASN][1000 genomes]
rs9287027	0.90[CHB][hapmap];0.82[EUR][1000 genomes];0.91[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	nsv8868	chr1:224383023-224752531	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv469889	chr1:224440354-224634374	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv482318	chr1:224440354-224634374	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224433400-224516200	Weak transcription	Fetal Heart	heart
2	chr1:224482800-224517000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr1:224483800-224517200	Weak transcription	Small Intestine	intestine
4	chr1:224491800-224516200	Weak transcription	Fetal Brain Male	brain
5	chr1:224491800-224516400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr1:224491800-224516600	Weak transcription	Rectal Smooth Muscle	rectum
7	chr1:224492400-224516400	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr1:224495400-224516600	Weak transcription	Esophagus	oesophagus
9	chr1:224495400-224516800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr1:224496000-224516200	Weak transcription	Brain Substantia Nigra	brain
11	chr1:224496000-224516200	Weak transcription	NHDF-Ad	bronchial
12	chr1:224496000-224516400	Weak transcription	Brain Anterior Caudate	brain
13	chr1:224496000-224516400	Weak transcription	Colonic Mucosa	Colon
14	chr1:224496000-224517000	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr1:224497000-224516200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr1:224497000-224516400	Weak transcription	NHLF	lung
17	chr1:224498000-224517000	Weak transcription	Brain Angular Gyrus	brain
18	chr1:224498000-224517200	Weak transcription	Aorta	Aorta
19	chr1:224498600-224516400	Weak transcription	Brain Hippocampus Middle	brain
20	chr1:224499400-224516400	Weak transcription	Thymus	Thymus
21	chr1:224501600-224516400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr1:224503800-224516200	Weak transcription	NH-A	brain
23	chr1:224504200-224516200	Weak transcription	Fetal Lung	lung
24	chr1:224504200-224516600	Weak transcription	Ovary	ovary
25	chr1:224504200-224517000	Weak transcription	HSMMtube	muscle
26	chr1:224504400-224516200	Weak transcription	NHEK	skin
27	chr1:224504400-224516600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr1:224504400-224517200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr1:224504400-224517200	Weak transcription	Pancreas	Pancrea
30	chr1:224504400-224517200	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr1:224504600-224516600	Weak transcription	Brain Germinal Matrix	brain
32	chr1:224504600-224516800	Weak transcription	Right Ventricle	heart
33	chr1:224504800-224516200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr1:224504800-224516400	Weak transcription	Primary neutrophils fromperipheralblood	blood
35	chr1:224505200-224516200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr1:224505200-224516200	Weak transcription	Stomach Smooth Muscle	stomach
37	chr1:224505400-224516000	Weak transcription	Adipose Nuclei	Adipose
38	chr1:224505400-224516200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr1:224505400-224516200	Weak transcription	Fetal Kidney	kidney
40	chr1:224505400-224516200	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr1:224505400-224516400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr1:224505400-224516600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr1:224505400-224516600	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr1:224505400-224516600	Weak transcription	HSMM	muscle
45	chr1:224505600-224516200	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr1:224505800-224516000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr1:224505800-224516000	Weak transcription	HUVEC	blood vessel
48	chr1:224505800-224516200	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr1:224505800-224516200	Weak transcription	Osteobl	bone
50	chr1:224505800-224516400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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