Variant report

Variant	rs60329449
Chromosome Location	chr2:86273247-86273248
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:86271666..86274392-chr2:86276622..86278866,2	MCF-7	breast:
2	chr2:86271262..86274058-chr2:86286293..86288618,2	K562	blood:
3	chr2:86270899..86273641-chr2:86288128..86290154,3	MCF-7	breast:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10184159	0.96[ASN][1000 genomes]
rs12124	0.86[ASN][1000 genomes]
rs17026904	0.96[ASN][1000 genomes]
rs2278532	0.96[ASN][1000 genomes]
rs2278533	0.96[ASN][1000 genomes]
rs2278534	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2278535	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2278537	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2288116	0.96[ASN][1000 genomes]
rs3731822	0.86[ASN][1000 genomes]
rs3755005	0.93[ASN][1000 genomes]
rs3770063	0.84[ASN][1000 genomes]
rs3770064	0.84[ASN][1000 genomes]
rs3770076	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3770083	0.96[ASN][1000 genomes]
rs3770084	0.96[ASN][1000 genomes]
rs3770085	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3770086	0.93[ASN][1000 genomes]
rs3770088	0.80[ASN][1000 genomes]
rs3770091	0.93[ASN][1000 genomes]
rs3821019	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57150140	0.96[ASN][1000 genomes]
rs57361751	0.86[ASN][1000 genomes]
rs57405155	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58009603	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58026145	0.96[ASN][1000 genomes]
rs58810051	0.84[ASN][1000 genomes]
rs58861315	0.96[ASN][1000 genomes]
rs58913632	0.86[ASN][1000 genomes]
rs58919291	0.96[ASN][1000 genomes]
rs59053280	0.96[ASN][1000 genomes]
rs59185549	0.84[ASN][1000 genomes]
rs59649940	0.84[ASN][1000 genomes]
rs60336356	1.00[EUR][1000 genomes]
rs61056382	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61185790	0.96[ASN][1000 genomes]
rs61199255	1.00[EUR][1000 genomes]
rs61254540	0.96[ASN][1000 genomes]
rs6755228	0.96[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	esv2751903	chr2:86253542-86505453	Active TSS Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv531380	chr2:86253552-86469217	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv870120	chr2:86265437-86343058	Strong transcription Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	16 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	chr2:86251200-86281400	Strong transcription	H9 Cell Line	embryonic stem cell
2	chr2:86251200-86283000	Strong transcription	HepG2	liver
3	chr2:86251200-86283200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr2:86251200-86285000	Strong transcription	HUES6 Cell Line	embryonic stem cell
5	chr2:86251200-86285200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
6	chr2:86252000-86331200	Strong transcription	HUES64 Cell Line	embryonic stem cell
7	chr2:86252200-86282600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
8	chr2:86252200-86285200	Strong transcription	HUES48 Cell Line	embryonic stem cell
9	chr2:86252400-86283200	Strong transcription	H1 Cell Line	embryonic stem cell
10	chr2:86252600-86276800	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr2:86264000-86281800	Strong transcription	Fetal Brain Female	brain
12	chr2:86264000-86332000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr2:86264200-86275400	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:86264400-86279400	Strong transcription	Hela-S3	cervix
15	chr2:86264400-86285400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr2:86264400-86285400	Strong transcription	A549	lung
17	chr2:86264600-86273800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr2:86264800-86275400	Strong transcription	ES-I3 Cell Line	embryonic stem cell
19	chr2:86265200-86281600	Strong transcription	HMEC	breast
20	chr2:86265200-86284000	Strong transcription	NHEK	skin
21	chr2:86265200-86330000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr2:86265400-86282600	Strong transcription	Esophagus	oesophagus
23	chr2:86265400-86285200	Strong transcription	Fetal Intestine Large	intestine
24	chr2:86265400-86289800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr2:86265400-86289800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr2:86265600-86274600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr2:86265600-86282000	Strong transcription	K562	blood
28	chr2:86265600-86282400	Strong transcription	Brain Germinal Matrix	brain
29	chr2:86265600-86289800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr2:86265800-86274400	Strong transcription	Brain Anterior Caudate	brain
31	chr2:86265800-86276600	Strong transcription	Brain Cingulate Gyrus	brain
32	chr2:86265800-86278600	Weak transcription	Small Intestine	intestine
33	chr2:86265800-86280400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr2:86265800-86284000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr2:86265800-86305400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr2:86266000-86274600	Strong transcription	Brain Angular Gyrus	brain
37	chr2:86266000-86275200	Strong transcription	Colon Smooth Muscle	Colon
38	chr2:86266000-86276600	Strong transcription	Brain Hippocampus Middle	brain
39	chr2:86266000-86278000	Strong transcription	Muscle Satellite Cultured Cells	--
40	chr2:86266000-86281800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr2:86266000-86282600	Strong transcription	Cortex derived primary cultured neurospheres	brain
42	chr2:86266000-86282800	Strong transcription	Gastric	stomach
43	chr2:86266000-86282800	Strong transcription	Rectal Mucosa Donor 29	rectum
44	chr2:86266000-86283800	Strong transcription	Fetal Intestine Small	intestine
45	chr2:86266000-86287800	Weak transcription	Right Atrium	heart
46	chr2:86266200-86280600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr2:86266200-86281000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr2:86266200-86281400	Strong transcription	NHLF	lung
49	chr2:86266200-86281600	Strong transcription	Osteobl	bone
50	chr2:86266200-86282200	Strong transcription	GM12878-XiMat	blood

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