Variant report

Variant	rs334157
Chromosome Location	chr2:128246412-128246413
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:128244656..128249813-chr2:128251598..128254709,4	K562	blood:
2	chr2:128246179..128248440-chr2:128251360..128253432,3	MCF-7	breast:
3	chr2:128240769..128243035-chr2:128245940..128248577,2	K562	blood:

Extended variants
information (count: 77 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs10177052	1.00[ASN][1000 genomes]
rs1019842	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10496661	1.00[ASN][1000 genomes]
rs10803589	1.00[ASN][1000 genomes]
rs10850	1.00[ASN][1000 genomes]
rs11679414	1.00[ASN][1000 genomes]
rs11680877	1.00[ASN][1000 genomes]
rs11683986	1.00[ASN][1000 genomes]
rs11691916	1.00[ASN][1000 genomes]
rs11692990	1.00[ASN][1000 genomes]
rs13030463	1.00[ASN][1000 genomes]
rs1518760	1.00[ASN][1000 genomes]
rs1568278	1.00[ASN][1000 genomes]
rs17261845	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17261859	0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1820969	1.00[ASN][1000 genomes]
rs1864552	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1864554	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2052954	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2069895	1.00[ASN][1000 genomes]
rs2069898	1.00[ASN][1000 genomes]
rs2069902	1.00[ASN][1000 genomes]
rs2069904	1.00[ASN][1000 genomes]
rs2069919	1.00[ASN][1000 genomes]
rs2099210	0.91[EUR][1000 genomes]
rs2163345	1.00[ASN][1000 genomes]
rs2163348	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2460106	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2679409	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2896979	1.00[ASN][1000 genomes]
rs334137	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs334138	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs334143	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs334144	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs334146	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs334151	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs334152	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs334154	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs334156	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs334158	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs334159	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs334160	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3893897	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3958415	1.00[ASN][1000 genomes]
rs4150400	1.00[ASN][1000 genomes]
rs4150402	1.00[ASN][1000 genomes]
rs4150416	1.00[ASN][1000 genomes]
rs4662719	1.00[ASN][1000 genomes]
rs4662720	1.00[ASN][1000 genomes]
rs4662736	1.00[ASN][1000 genomes]
rs55998444	1.00[ASN][1000 genomes]
rs56273408	1.00[ASN][1000 genomes]
rs5937	1.00[ASN][1000 genomes]
rs59378658	1.00[ASN][1000 genomes]
rs61422716	1.00[ASN][1000 genomes]
rs6430938	1.00[ASN][1000 genomes]
rs6756535	1.00[ASN][1000 genomes]
rs72845975	1.00[ASN][1000 genomes]
rs72845976	1.00[ASN][1000 genomes]
rs72845991	1.00[ASN][1000 genomes]
rs72845993	1.00[ASN][1000 genomes]
rs72845997	1.00[ASN][1000 genomes]
rs72846002	1.00[ASN][1000 genomes]
rs72848604	1.00[ASN][1000 genomes]
rs72848612	1.00[ASN][1000 genomes]
rs72848615	1.00[ASN][1000 genomes]
rs72848616	1.00[ASN][1000 genomes]
rs72848618	1.00[ASN][1000 genomes]
rs7556675	1.00[ASN][1000 genomes]
rs7562428	1.00[ASN][1000 genomes]
rs7582598	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7592490	0.88[EUR][1000 genomes]
rs7607907	1.00[ASN][1000 genomes]
rs777554	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs777569	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9287540	0.91[EUR][1000 genomes];1.00[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	nsv875014	chr2:128178415-128328375	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:128223600-128268800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:128229000-128257000	Weak transcription	Stomach Mucosa	stomach
3	chr2:128235200-128270000	Strong transcription	Dnd41	blood
4	chr2:128237400-128252400	Strong transcription	Fetal Muscle Trunk	muscle
5	chr2:128237400-128262400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr2:128237600-128246600	Strong transcription	Fetal Stomach	stomach
7	chr2:128237600-128247200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr2:128237600-128247600	Strong transcription	Thymus	Thymus
9	chr2:128237600-128248000	Strong transcription	Fetal Intestine Large	intestine
10	chr2:128237600-128251400	Strong transcription	Rectal Smooth Muscle	rectum
11	chr2:128237600-128252200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr2:128237600-128252200	Strong transcription	Sigmoid Colon	Sigmoid Colon
13	chr2:128237600-128255000	Strong transcription	Fetal Muscle Leg	muscle
14	chr2:128237600-128255200	Strong transcription	Rectal Mucosa Donor 31	rectum
15	chr2:128237600-128255400	Strong transcription	Cortex derived primary cultured neurospheres	brain
16	chr2:128237600-128256000	Strong transcription	Duodenum Smooth Muscle	Duodenum
17	chr2:128237600-128256200	Strong transcription	HepG2	liver
18	chr2:128237600-128263200	Strong transcription	Adipose Nuclei	Adipose
19	chr2:128237600-128263200	Strong transcription	Rectal Mucosa Donor 29	rectum
20	chr2:128237600-128263400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr2:128237600-128263400	Strong transcription	Fetal Thymus	thymus
22	chr2:128237800-128248600	Strong transcription	Colonic Mucosa	Colon
23	chr2:128237800-128252400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr2:128237800-128252400	Strong transcription	Left Ventricle	heart
25	chr2:128237800-128252400	Strong transcription	GM12878-XiMat	blood
26	chr2:128237800-128254400	Strong transcription	Brain Substantia Nigra	brain
27	chr2:128237800-128254600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr2:128237800-128255800	Strong transcription	Stomach Smooth Muscle	stomach
29	chr2:128237800-128263200	Strong transcription	Liver	Liver
30	chr2:128237800-128263200	Strong transcription	HUVEC	blood vessel
31	chr2:128237800-128263400	Strong transcription	Placenta	Placenta
32	chr2:128238400-128255200	Strong transcription	K562	blood
33	chr2:128238400-128262400	Strong transcription	NH-A	brain
34	chr2:128238800-128248200	Strong transcription	Ovary	ovary
35	chr2:128238800-128260400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr2:128239200-128263400	Strong transcription	H1 Cell Line	embryonic stem cell
37	chr2:128239200-128264800	Strong transcription	HUES64 Cell Line	embryonic stem cell
38	chr2:128239400-128248200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
39	chr2:128239400-128252400	Strong transcription	H9 Cell Line	embryonic stem cell
40	chr2:128239400-128255400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr2:128239400-128256200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr2:128239400-128264400	Strong transcription	HUES6 Cell Line	embryonic stem cell
43	chr2:128239400-128266200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr2:128239400-128266400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
45	chr2:128239800-128261800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr2:128240000-128263400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
47	chr2:128240200-128263600	Strong transcription	HUES48 Cell Line	embryonic stem cell
48	chr2:128240400-128263800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr2:128240600-128265600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr2:128241000-128263200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell

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