Variant report

Variant	rs4450000
Chromosome Location	chr1:193091984-193091985
allele	C/G
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:193025655..193031465-chr1:193087281..193093381,17	MCF-7	breast:
2	chr1:193091690..193093803-chr1:193152706..193155451,2	K562	blood:
3	chr1:193071491..193076891-chr1:193086924..193094906,44	MCF-7	breast:
4	chr1:193091734..193094443-chr1:193102754..193106005,3	MCF-7	breast:
5	chr1:193071213..193080146-chr1:193088491..193094639,51	MCF-7	breast:
6	chr1:192776599..192779563-chr1:193090962..193092551,2	K562	blood:
7	chr1:193020543..193046917-chr1:193069266..193098746,125	K562	blood:
8	chr1:193089186..193093634-chr1:193104182..193110601,11	MCF-7	breast:
9	chr1:193018810..193043703-chr1:193079188..193098601,93	K562	blood:
10	chr1:193025349..193030732-chr1:193089240..193093287,15	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000023572	Chromatin interaction
ENSG00000116741	Chromatin interaction
ENSG00000116747	Chromatin interaction
ENSG00000221680	Chromatin interaction
ENSG00000238754	Chromatin interaction
ENSG00000116750	Chromatin interaction

Extended variants
information (count: 122 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:121)

rs_ID	r²[population]
rs10399607	0.84[ASN][1000 genomes]
rs10399929	0.84[ASN][1000 genomes]
rs10494674	0.91[CHB][hapmap];0.96[JPT][hapmap];1.00[ASN][1000 genomes]
rs10732293	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap]
rs10733078	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10737620	0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs10737621	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10737622	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10754044	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10754046	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10754047	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10754048	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs10754049	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs10754052	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs10754053	0.85[ASN][1000 genomes]
rs10801173	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.85[ASN][1000 genomes]
rs10801174	1.00[CEU][hapmap];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10801175	0.86[ASN][1000 genomes]
rs10801177	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10801178	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10801179	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs10801180	0.96[ASN][1000 genomes]
rs10801182	0.96[ASN][1000 genomes]
rs10801183	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs10801184	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10801187	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10801188	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10801189	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10921308	0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.85[ASN][1000 genomes]
rs10921310	0.88[ASN][1000 genomes]
rs10921312	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs10921313	0.88[ASN][1000 genomes]
rs10921317	1.00[ASN][1000 genomes]
rs10921318	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10921319	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10921323	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10921325	0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs10921326	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[YRI][hapmap];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10921330	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11577299	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12086884	0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs12090626	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12126529	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.99[ASN][1000 genomes]
rs12137318	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12141392	0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs12145057	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12410213	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap]
rs12735445	0.81[ASN][1000 genomes]
rs1325197	1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs1408830	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap]
rs1536097	0.84[ASN][1000 genomes]
rs1536098	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap]
rs1536099	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1539724	0.91[CEU][hapmap];0.90[JPT][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1555555	0.82[ASN][1000 genomes]
rs1890660	0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs2181408	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2182106	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs2186016	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2275444	0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2370028	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2370029	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2370079	0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.84[ASN][1000 genomes]
rs3738244	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3753948	0.82[ASN][1000 genomes]
rs3806351	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3818865	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs3820417	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs3945872	0.88[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs4379660	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4466634	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap]
rs4657744	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4657745	0.96[ASN][1000 genomes]
rs4657842	0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs4657843	0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.86[ASN][1000 genomes]
rs4657845	0.88[ASN][1000 genomes]
rs4657846	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4657847	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4657848	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs4658079	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs569656	0.95[CHB][hapmap];0.83[JPT][hapmap]
rs6428151	1.00[ASN][1000 genomes]
rs6428152	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.95[ASN][1000 genomes]
rs6428153	0.86[ASN][1000 genomes]
rs6428154	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs6428155	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6428156	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6428157	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap]
rs6428159	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6661522	0.81[CHB][hapmap]
rs6663162	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6663431	0.85[ASN][1000 genomes]
rs6665069	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs6665666	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs6671237	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs6673271	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6675833	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs6676322	0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs6676416	0.95[CHB][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs6676878	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs6680224	0.91[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs6692342	0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs6697079	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.89[YRI][hapmap]
rs6703727	0.89[ASN][1000 genomes]
rs693519	0.95[CHB][hapmap];0.83[JPT][hapmap]
rs7514072	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7515024	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7518792	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.86[ASN][1000 genomes]
rs7519242	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];1.00[ASN][1000 genomes]
rs7542466	0.90[CHB][hapmap];0.91[JPT][hapmap];0.85[ASN][1000 genomes]
rs7545223	0.84[ASN][1000 genomes]
rs7546869	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7547615	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7553247	0.88[YRI][hapmap];0.84[ASN][1000 genomes]
rs7554925	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs817140	0.95[CHB][hapmap];0.82[JPT][hapmap]
rs843844	0.95[CHB][hapmap];0.87[JPT][hapmap]
rs912070	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs912071	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs9427838	0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs9783104	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]

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	nsv532618	chr1:192537006-193149179	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:193087600-193092800	Active TSS	K562	blood
2	chr1:193090000-193092000	Active TSS	Fetal Brain Female	brain
3	chr1:193090000-193092200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr1:193090000-193092400	Active TSS	Brain Inferior Temporal Lobe	brain
5	chr1:193090200-193092000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
6	chr1:193090200-193092000	Active TSS	Skeletal Muscle Male	skeletal muscle
7	chr1:193090200-193092000	Active TSS	Stomach Smooth Muscle	stomach
8	chr1:193090200-193092200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr1:193090200-193092200	Active TSS	Fetal Brain Male	brain
10	chr1:193090200-193092400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr1:193090200-193092400	Active TSS	Fetal Muscle Leg	muscle
12	chr1:193090200-193092400	Active TSS	Psoas Muscle	Psoas
13	chr1:193090200-193092600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr1:193090200-193092600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
15	chr1:193090200-193092600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr1:193090200-193092600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr1:193090200-193092600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
18	chr1:193090200-193092600	Active TSS	Osteobl	bone
19	chr1:193090200-193092800	Active TSS	HUES6 Cell Line	embryonic stem cell
20	chr1:193090200-193092800	Active TSS	Brain Angular Gyrus	brain
21	chr1:193090200-193092800	Active TSS	Fetal Kidney	kidney
22	chr1:193090200-193092800	Active TSS	Pancreatic Islets	Pancreatic Islet
23	chr1:193090200-193092800	Active TSS	Rectal Smooth Muscle	rectum
24	chr1:193090200-193093000	Active TSS	H1 Cell Line	embryonic stem cell
25	chr1:193090200-193093000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr1:193090200-193093000	Active TSS	HUES64 Cell Line	embryonic stem cell
27	chr1:193090200-193093600	Active TSS	NHDF-Ad	bronchial
28	chr1:193090200-193094000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr1:193090400-193092000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
30	chr1:193090400-193092000	Active TSS	Brain Substantia Nigra	brain
31	chr1:193090400-193092200	Active TSS	Duodenum Mucosa	Duodenum
32	chr1:193090400-193092200	Active TSS	Thymus	Thymus
33	chr1:193090400-193092400	Active TSS	Muscle Satellite Cultured Cells	--
34	chr1:193090400-193092400	Active TSS	Aorta	Aorta
35	chr1:193090400-193092400	Active TSS	Brain Cingulate Gyrus	brain
36	chr1:193090400-193092400	Active TSS	Colonic Mucosa	Colon
37	chr1:193090400-193092400	Active TSS	Esophagus	oesophagus
38	chr1:193090400-193092400	Active TSS	Fetal Lung	lung
39	chr1:193090400-193092400	Active TSS	Fetal Muscle Trunk	muscle
40	chr1:193090400-193092400	Active TSS	Placenta	Placenta
41	chr1:193090400-193092400	Active TSS	Left Ventricle	heart
42	chr1:193090400-193092400	Active TSS	Skeletal Muscle Female	skeletal muscle
43	chr1:193090400-193092600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr1:193090400-193092600	Active TSS	H9 Cell Line	embryonic stem cell
45	chr1:193090400-193092600	Active TSS	Colon Smooth Muscle	Colon
46	chr1:193090400-193092600	Active TSS	Duodenum Smooth Muscle	Duodenum
47	chr1:193090400-193092600	Active TSS	Fetal Intestine Large	intestine
48	chr1:193090400-193092600	Active TSS	Rectal Mucosa Donor 29	rectum
49	chr1:193090400-193092600	Active TSS	A549	lung
50	chr1:193090400-193092800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood

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