Variant report

Variant	rs12468621
Chromosome Location	chr2:10024053-10024054
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:10022528..10025369-chr2:10031502..10033505,2	K562	blood:
2	chr2:10023869..10026802-chr2:10030630..10033505,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs2116017	1.00[ASN][1000 genomes]
rs35927125	1.00[ASN][1000 genomes]
rs4444493	1.00[ASN][1000 genomes]
rs4669510	1.00[ASN][1000 genomes]
rs4669512	1.00[ASN][1000 genomes]
rs55797250	1.00[ASN][1000 genomes]
rs56013048	1.00[ASN][1000 genomes]
rs56147664	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6717307	1.00[ASN][1000 genomes]
rs72784502	1.00[ASN][1000 genomes]
rs72786603	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948591	chr2:9922257-10141191	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv873630	chr2:9953949-10030024	Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	25 gene(s)	inside rSNPs	diseases
3	nsv873631	chr2:9975557-10059770	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
4	esv1843231	chr2:9979766-10141191	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	nsv580960	chr2:9993451-10066694	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv1011125	chr2:9996740-10293803	Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
7	nsv873632	chr2:10000978-10045014	Enhancers ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	nsv1011689	chr2:10023891-10293803	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:9987200-10038400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr2:9993800-10079600	Weak transcription	Gastric	stomach
3	chr2:9995800-10038000	Weak transcription	Small Intestine	intestine
4	chr2:9998200-10035600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr2:9998800-10026000	Weak transcription	Fetal Brain Male	brain
6	chr2:9998800-10032200	Weak transcription	Fetal Heart	heart
7	chr2:9998800-10036400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr2:9999000-10035800	Weak transcription	Brain Hippocampus Middle	brain
9	chr2:9999000-10035800	Weak transcription	Brain Substantia Nigra	brain
10	chr2:9999000-10037000	Weak transcription	Brain Cingulate Gyrus	brain
11	chr2:9999000-10037200	Weak transcription	Colon Smooth Muscle	Colon
12	chr2:9999200-10036200	Weak transcription	Brain Angular Gyrus	brain
13	chr2:9999200-10036400	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr2:9999200-10053800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr2:10002200-10024200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:10007800-10026200	Strong transcription	Dnd41	blood
17	chr2:10008000-10026800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr2:10008200-10028000	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr2:10008400-10026600	Weak transcription	GM12878-XiMat	blood
20	chr2:10014800-10045400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr2:10015000-10036200	Weak transcription	Fetal Kidney	kidney
22	chr2:10017600-10024800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr2:10017600-10036200	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr2:10017800-10073000	Weak transcription	Right Ventricle	heart
25	chr2:10018000-10026400	Strong transcription	HUES6 Cell Line	embryonic stem cell
26	chr2:10018200-10024400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr2:10018400-10035600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr2:10018600-10024800	Strong transcription	Placenta	Placenta
29	chr2:10018800-10027600	Strong transcription	HUES64 Cell Line	embryonic stem cell
30	chr2:10018800-10036200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr2:10019000-10036000	Weak transcription	Stomach Mucosa	stomach
32	chr2:10019400-10026200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr2:10019600-10025200	Weak transcription	NHDF-Ad	bronchial
34	chr2:10019600-10027400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr2:10019800-10024800	Weak transcription	Osteobl	bone
36	chr2:10019800-10037200	Weak transcription	HUVEC	blood vessel
37	chr2:10020200-10029800	Weak transcription	HSMMtube	muscle
38	chr2:10020200-10032200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr2:10020400-10024600	Weak transcription	NH-A	brain
40	chr2:10020400-10025200	Weak transcription	NHEK	skin
41	chr2:10020400-10026800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr2:10020400-10028400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr2:10020400-10037400	Weak transcription	K562	blood
44	chr2:10020800-10024200	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr2:10020800-10024200	Weak transcription	Adipose Nuclei	Adipose
46	chr2:10020800-10026400	Weak transcription	HSMM	muscle
47	chr2:10020800-10029000	Weak transcription	HepG2	liver
48	chr2:10021000-10026800	Weak transcription	Primary B cells from peripheral blood	blood
49	chr2:10021600-10025000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr2:10021800-10026400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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