Variant report

Variant	rs12632308
Chromosome Location	chr3:121198396-121198397
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:121197599..121199340-chr3:121205840..121207439,2	K562	blood:

Extended variants
information (count: 111 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:103)

rs_ID	r²[population]
rs10451895	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10934551	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11705939	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11706583	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11707252	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11707354	0.89[EUR][1000 genomes]
rs11708438	0.84[EUR][1000 genomes]
rs11709378	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11709726	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11711667	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11713643	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11714746	0.91[ASN][1000 genomes]
rs11714774	0.89[ASN][1000 genomes]
rs11718918	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12233510	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12488196	0.91[ASN][1000 genomes]
rs12496163	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12634017	0.88[ASN][1000 genomes]
rs12635218	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13059229	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13076688	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13077237	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13077305	0.91[ASN][1000 genomes]
rs13080007	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13081748	0.84[EUR][1000 genomes]
rs13082118	0.86[ASN][1000 genomes]
rs13085365	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13086811	0.84[EUR][1000 genomes]
rs13095550	0.80[ASN][1000 genomes]
rs13095841	0.85[EUR][1000 genomes]
rs13097659	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13100579	0.91[ASN][1000 genomes]
rs1381058	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1381059	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1877968	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1877969	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1986730	0.84[EUR][1000 genomes]
rs1987097	0.84[EUR][1000 genomes]
rs2030531	0.87[EUR][1000 genomes]
rs2126140	0.85[EUR][1000 genomes]
rs2169300	0.84[EUR][1000 genomes]
rs2169301	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2331921	0.84[EUR][1000 genomes]
rs2331962	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28406368	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3218649	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35362700	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3732405	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3732406	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3772122	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3772124	0.98[ASN][1000 genomes]
rs3806614	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3843345	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3845860	0.98[ASN][1000 genomes]
rs3845863	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3856578	0.81[AMR][1000 genomes]
rs3911713	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4555467	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4676680	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4676722	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4676728	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs488636	0.91[ASN][1000 genomes]
rs500100	0.82[ASN][1000 genomes]
rs500103	0.82[ASN][1000 genomes]
rs502643	0.91[ASN][1000 genomes]
rs524026	0.91[ASN][1000 genomes]
rs541818	0.88[ASN][1000 genomes]
rs575913	0.98[ASN][1000 genomes]
rs587553	0.89[ASN][1000 genomes]
rs61796946	0.93[ASN][1000 genomes]
rs6438625	0.84[EUR][1000 genomes]
rs6438626	0.83[EUR][1000 genomes]
rs6438631	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6438633	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs66922316	0.98[ASN][1000 genomes]
rs6765310	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6769377	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6778684	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6784324	0.95[ASN][1000 genomes]
rs6793252	0.98[ASN][1000 genomes]
rs6796068	0.84[EUR][1000 genomes]
rs6797376	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6797682	0.86[ASN][1000 genomes]
rs6798699	0.84[EUR][1000 genomes]
rs693403	0.98[ASN][1000 genomes]
rs702019	0.91[ASN][1000 genomes]
rs7612018	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7613752	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7614639	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7615529	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7617748	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7618570	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7621376	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7622867	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7622881	0.91[ASN][1000 genomes]
rs7622897	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7628081	0.91[ASN][1000 genomes]
rs7633930	0.91[ASN][1000 genomes]
rs7644928	0.84[EUR][1000 genomes]
rs7645027	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7645050	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7645544	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7645869	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[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	nsv998555	chr3:120700604-121348015	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
2	nsv591395	chr3:120970900-121501070	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv591396	chr3:120970900-121557533	Strong transcription Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv591397	chr3:120977383-121505882	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
5	nsv829702	chr3:121045793-121227975	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv591400	chr3:121070299-121339354	Strong transcription Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv999335	chr3:121100283-121408766	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
8	nsv877381	chr3:121192350-121343500	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:121148400-121199600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr3:121149400-121199600	Weak transcription	Fetal Lung	lung
3	chr3:121151200-121263800	Weak transcription	Duodenum Mucosa	Duodenum
4	chr3:121176400-121214800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr3:121176400-121224200	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr3:121177200-121237000	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr3:121177400-121204000	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr3:121177400-121205200	Strong transcription	HUES48 Cell Line	embryonic stem cell
9	chr3:121177800-121214800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr3:121178000-121208600	Weak transcription	Fetal Heart	heart
11	chr3:121178200-121263800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr3:121178400-121204800	Strong transcription	Dnd41	blood
13	chr3:121181000-121219600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr3:121181400-121198400	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr3:121181600-121204000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
16	chr3:121183200-121200200	Weak transcription	Brain Germinal Matrix	brain
17	chr3:121183800-121234400	Weak transcription	Primary B cells from cord blood	blood
18	chr3:121186400-121255600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr3:121186600-121211600	Weak transcription	Primary T cells from cord blood	blood
20	chr3:121186800-121213000	Weak transcription	Fetal Intestine Small	intestine
21	chr3:121187000-121209600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr3:121187200-121223400	Weak transcription	Fetal Intestine Large	intestine
23	chr3:121192200-121200200	Weak transcription	NHEK	skin
24	chr3:121192200-121233600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr3:121193000-121212400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr3:121193200-121199400	Weak transcription	Fetal Stomach	stomach
27	chr3:121193200-121237000	Weak transcription	Fetal Muscle Trunk	muscle
28	chr3:121193600-121199600	Weak transcription	A549	lung
29	chr3:121194200-121199600	Weak transcription	K562	blood
30	chr3:121194400-121199400	Weak transcription	Hela-S3	cervix
31	chr3:121195200-121208200	Weak transcription	Thymus	Thymus
32	chr3:121195400-121199800	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr3:121195600-121233800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr3:121195800-121199200	Weak transcription	Primary neutrophils fromperipheralblood	blood
35	chr3:121195800-121207400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr3:121196000-121199400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr3:121196000-121199400	Weak transcription	HMEC	breast
38	chr3:121196000-121207000	Weak transcription	Primary hematopoietic stem cells	blood
39	chr3:121196000-121208800	Weak transcription	Fetal Muscle Leg	muscle
40	chr3:121196200-121200400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr3:121196800-121208600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr3:121197000-121199200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr3:121197000-121199200	Weak transcription	Fetal Thymus	thymus
44	chr3:121197000-121199400	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr3:121197000-121202000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr3:121197000-121207600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr3:121197200-121198600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr3:121197200-121199200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr3:121197200-121199200	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr3:121197200-121199600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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