Variant report

Variant	rs60304309
Chromosome Location	chr11:102005096-102005097
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:102003541..102005522-chr11:102007051..102009106,2	K562	blood:

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10750632	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10750633	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10750634	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10791564	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10791565	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10895258	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10895259	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10895261	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10895262	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10895263	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10895264	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10895265	0.84[ASN][1000 genomes]
rs10895266	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11225134	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11225135	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11225139	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11225141	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11225146	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11225147	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11225149	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11225151	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11603468	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11606471	0.85[ASN][1000 genomes]
rs11607135	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12223094	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12790160	0.86[ASN][1000 genomes]
rs12796162	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1365330	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1426392	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1426394	0.84[ASN][1000 genomes]
rs1426395	0.81[AFR][1000 genomes]
rs1834595	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1834596	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1893497	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1895917	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1942680	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1942688	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1942689	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1942690	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2003357	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2019070	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3890538	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4329661	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4442513	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4754833	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4754834	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61538959	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6590949	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7108698	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7108820	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7117239	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7123862	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7124280	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7126535	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7127597	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7130772	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7483889	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7924449	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7924737	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7927957	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7928547	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7938172	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs948737	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9787890	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3362945	chr11:101736547-102114246	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv898333	chr11:101832670-102079986	Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1052348	chr11:101987090-102255753	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv556141	chr11:101988061-102207851	Weak transcription Genic enhancers Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv1050961	chr11:101993880-102253717	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
6	nsv1051735	chr11:101993880-102255753	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
7	nsv530646	chr11:102000840-102238992	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:101983600-102014800	Weak transcription	Pancreas	Pancrea
2	chr11:101985200-102009200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr11:101988800-102009000	Weak transcription	Stomach Smooth Muscle	stomach
4	chr11:101988800-102009600	Weak transcription	Rectal Smooth Muscle	rectum
5	chr11:101989600-102015200	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr11:101991000-102009000	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr11:101991000-102010000	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr11:101991600-102006000	Weak transcription	NHLF	lung
9	chr11:101991600-102008800	Weak transcription	HSMMtube	muscle
10	chr11:101991600-102012400	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr11:101991600-102015200	Weak transcription	Fetal Kidney	kidney
12	chr11:101991600-102015600	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr11:101992800-102008800	Weak transcription	NHDF-Ad	bronchial
14	chr11:101996000-102008000	Weak transcription	Esophagus	oesophagus
15	chr11:101996000-102009000	Weak transcription	Aorta	Aorta
16	chr11:101997000-102006200	Weak transcription	Hela-S3	cervix
17	chr11:101997600-102009000	Weak transcription	A549	lung
18	chr11:101997600-102009000	Weak transcription	Osteobl	bone
19	chr11:101998400-102005400	Weak transcription	Left Ventricle	heart
20	chr11:101998400-102006000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr11:101998600-102006000	Weak transcription	Gastric	stomach
22	chr11:101998600-102033000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr11:101998600-102034200	Weak transcription	Fetal Muscle Trunk	muscle
24	chr11:101998800-102008000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr11:101998800-102009200	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr11:101998800-102009800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr11:101998800-102014400	Weak transcription	Liver	Liver
28	chr11:101998800-102014600	Weak transcription	Small Intestine	intestine
29	chr11:101998800-102014800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr11:101999000-102008800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr11:101999000-102008800	Weak transcription	Placenta	Placenta
32	chr11:101999000-102010000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr11:101999000-102012600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr11:101999200-102006000	Weak transcription	Fetal Muscle Leg	muscle
35	chr11:101999400-102009200	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr11:101999400-102010000	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr11:101999600-102009400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr11:102000800-102007800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr11:102000800-102034000	Weak transcription	Lung	lung
40	chr11:102001200-102010000	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr11:102001400-102005400	Weak transcription	Right Atrium	heart
42	chr11:102001600-102006000	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr11:102001600-102007800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr11:102001800-102005400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr11:102002000-102007600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr11:102002200-102006000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr11:102002400-102005400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr11:102002400-102006000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr11:102002400-102006000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr11:102002400-102006000	Weak transcription	NHEK	skin

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