Variant report

Variant	rs4657845
Chromosome Location	chr1:193072784-193072785
allele	A/T
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	chr1:193026932..193030661-chr1:193071909..193075798,10	K562	blood:
2	chr1:193051402..193053368-chr1:193070882..193073631,3	K562	blood:
3	chr1:193071213..193080146-chr1:193088491..193094639,51	MCF-7	breast:
4	chr1:193020543..193046917-chr1:193069266..193098746,125	K562	blood:
5	chr1:193071491..193076891-chr1:193086924..193094906,44	MCF-7	breast:
6	chr1:193027586..193031673-chr1:193072686..193075563,11	MCF-7	breast:
7	chr1:193033762..193041249-chr1:193071629..193075233,8	K562	blood:
8	chr1:193064913..193067951-chr1:193071515..193073810,3	MCF-7	breast:
9	chr1:193072300..193074482-chr1:193111235..193114031,2	MCF-7	breast:
10	chr1:193071262..193074086-chr1:193134961..193136816,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000116747	Chromatin interaction
ENSG00000238754	Chromatin interaction
ENSG00000134371	Chromatin interaction
ENSG00000116750	Chromatin interaction

Extended variants
information (count: 85 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs10494674	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10733078	0.99[ASN][1000 genomes]
rs10737620	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10737621	0.90[ASN][1000 genomes]
rs10737622	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10754044	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10754046	0.88[ASN][1000 genomes]
rs10754047	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10754048	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10754049	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10801167	0.90[ASN][1000 genomes]
rs10801173	0.96[ASN][1000 genomes]
rs10801174	1.00[ASN][1000 genomes]
rs10801175	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10801177	0.88[ASN][1000 genomes]
rs10801178	0.86[ASN][1000 genomes]
rs10801179	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10801180	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10801182	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10801183	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10801184	0.85[ASN][1000 genomes]
rs10921304	0.82[ASN][1000 genomes]
rs10921305	0.90[ASN][1000 genomes]
rs10921308	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10921310	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10921312	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10921313	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10921317	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10921319	0.88[ASN][1000 genomes]
rs11577299	0.86[ASN][1000 genomes]
rs11583763	0.90[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12086884	0.92[ASN][1000 genomes]
rs12090626	0.86[ASN][1000 genomes]
rs12126529	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12137318	0.88[ASN][1000 genomes]
rs12141392	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12145057	0.88[ASN][1000 genomes]
rs12735445	0.92[ASN][1000 genomes]
rs1539724	0.86[ASN][1000 genomes]
rs1555555	0.90[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1890660	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2181408	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2186016	0.88[ASN][1000 genomes]
rs2275444	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2370028	0.88[ASN][1000 genomes]
rs2370029	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2370079	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2370081	0.90[ASN][1000 genomes]
rs3753948	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3806351	0.90[ASN][1000 genomes]
rs3818865	0.90[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs3820417	0.90[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs3945872	0.93[ASN][1000 genomes]
rs4450000	0.88[ASN][1000 genomes]
rs4657744	0.88[ASN][1000 genomes]
rs4657745	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4657840	0.89[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4657842	0.92[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4657843	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4657846	0.90[ASN][1000 genomes]
rs4657847	0.90[ASN][1000 genomes]
rs4658079	0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs6428151	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6428152	0.85[ASN][1000 genomes]
rs6663431	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6665069	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6671237	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6672649	0.90[ASN][1000 genomes]
rs6676322	0.93[ASN][1000 genomes]
rs6676416	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs6692342	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6692805	0.91[ASN][1000 genomes]
rs6703727	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7514072	0.88[ASN][1000 genomes]
rs7519242	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7534257	0.87[ASN][1000 genomes]
rs7542466	0.96[ASN][1000 genomes]
rs7547615	1.00[ASN][1000 genomes]
rs7553247	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs912070	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs912071	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9427838	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9783104	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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
2	nsv1002094	chr1:192968080-193084045	Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:193048600-193073000	Weak transcription	Fetal Brain Male	brain
2	chr1:193053000-193073200	Weak transcription	Esophagus	oesophagus
3	chr1:193054200-193073000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr1:193054200-193073000	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr1:193054800-193073000	Weak transcription	Fetal Thymus	thymus
6	chr1:193056200-193073200	Weak transcription	Brain Germinal Matrix	brain
7	chr1:193064000-193073200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr1:193066200-193073000	Weak transcription	Fetal Brain Female	brain
9	chr1:193069200-193072800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr1:193069200-193073000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr1:193069200-193073000	Weak transcription	Aorta	Aorta
12	chr1:193069200-193073400	Weak transcription	Gastric	stomach
13	chr1:193069200-193073400	Weak transcription	Pancreas	Pancrea
14	chr1:193069400-193073000	Weak transcription	Ovary	ovary
15	chr1:193069400-193073000	Weak transcription	Thymus	Thymus
16	chr1:193069600-193073000	Weak transcription	Fetal Intestine Small	intestine
17	chr1:193069600-193073000	Weak transcription	Fetal Stomach	stomach
18	chr1:193069600-193073000	Weak transcription	Spleen	Spleen
19	chr1:193069600-193073400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr1:193069600-193073400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr1:193069600-193073400	Weak transcription	Small Intestine	intestine
22	chr1:193069800-193072800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr1:193070000-193072800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr1:193070000-193072800	Weak transcription	Stomach Smooth Muscle	stomach
25	chr1:193070000-193072800	Weak transcription	NH-A	brain
26	chr1:193070000-193073000	Weak transcription	Primary B cells from cord blood	blood
27	chr1:193070000-193073000	Weak transcription	Primary B cells from peripheral blood	blood
28	chr1:193070000-193073000	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr1:193070000-193073000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr1:193070000-193073000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr1:193070000-193073000	Weak transcription	Placenta	Placenta
32	chr1:193070000-193073000	Weak transcription	Left Ventricle	heart
33	chr1:193070000-193073000	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr1:193070000-193073000	Weak transcription	Right Ventricle	heart
35	chr1:193070000-193073200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr1:193070000-193073200	Weak transcription	Fetal Muscle Trunk	muscle
37	chr1:193070000-193073400	Weak transcription	Lung	lung
38	chr1:193070200-193072800	Weak transcription	Primary T cells from cord blood	blood
39	chr1:193070200-193072800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr1:193070200-193073200	Weak transcription	Fetal Kidney	kidney
41	chr1:193070800-193072800	Weak transcription	Primary hematopoietic stem cells	blood
42	chr1:193070800-193073000	Enhancers	Adipose Nuclei	Adipose
43	chr1:193071000-193072800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr1:193071400-193073000	Enhancers	HepG2	liver
45	chr1:193071600-193072800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr1:193071600-193073200	Enhancers	Primary neutrophils fromperipheralblood	blood
47	chr1:193071800-193072800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr1:193071800-193073000	Weak transcription	Right Atrium	heart
49	chr1:193071800-193073200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
50	chr1:193072000-193072800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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