Variant report

Variant	rs7645027
Chromosome Location	chr3:121184275-121184276
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	chr3:121183395..121185152-chr3:121186567..121189009,2	MCF-7	breast:
2	chr3:121181463..121184397-chr3:121190122..121192546,2	K562	blood:

Extended variants
information (count: 133 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:125)

rs_ID	r²[population]
rs10451895	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10934551	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11705939	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11706583	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11707252	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11707354	0.90[EUR][1000 genomes]
rs11708438	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11709378	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11709726	1.00[CEU][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11711667	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11713643	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11714746	0.89[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs11714774	0.88[AFR][1000 genomes]
rs11715085	0.90[AFR][1000 genomes]
rs11718918	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12233510	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12488196	0.81[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs12496163	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12632308	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12634017	0.97[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs12635218	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13059229	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13065220	0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs13076688	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13077237	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13077305	0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs13080007	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13081748	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13082118	0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs13085365	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13086811	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13095550	0.87[AFR][1000 genomes]
rs13095841	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13097659	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13100579	0.92[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs1381057	0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs1381058	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1381059	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1877968	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1877969	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1986730	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1987097	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1987098	0.84[ASN][1000 genomes]
rs2030531	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2126139	0.81[ASN][1000 genomes]
rs2126140	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2127024	0.84[ASN][1000 genomes]
rs2169300	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2169301	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2331921	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2331962	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28406368	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3218649	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35362700	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3732405	0.85[EUR][1000 genomes]
rs3732406	0.96[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3772122	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3772124	0.94[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs3806614	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3843345	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3845860	0.86[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs3845863	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3856578	0.86[AMR][1000 genomes]
rs3911713	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4107754	0.81[ASN][1000 genomes]
rs4346498	0.81[ASN][1000 genomes]
rs4555467	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4676677	0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs4676680	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4676722	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4676728	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs488636	0.81[ASN][1000 genomes]
rs502643	0.86[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs524026	0.95[ASN][1000 genomes]
rs541818	0.98[ASN][1000 genomes]
rs575913	0.88[ASN][1000 genomes]
rs587553	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs61796944	0.83[ASN][1000 genomes]
rs61796946	0.82[ASN][1000 genomes]
rs6438625	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6438626	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6438630	0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs6438631	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6438633	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66922316	0.90[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs6765310	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6769377	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6778684	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6782025	0.85[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs6782033	0.85[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs6784324	0.97[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs6787048	0.85[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs6793029	0.81[ASN][1000 genomes]
rs6793252	0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs6796068	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6797376	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6797682	0.82[AFR][1000 genomes]
rs6798699	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs6806191	0.86[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs693403	0.85[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs702019	0.85[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs7609781	0.84[ASN][1000 genomes]
rs7612018	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7613752	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7614639	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7615529	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7617748	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7618570	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7621376	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7622867	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7622881	0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs7622897	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7627978	0.84[ASN][1000 genomes]
rs7628081	0.92[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs7632907	0.85[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs7633930	0.86[CHB][hapmap];0.88[JPT][hapmap];0.91[YRI][hapmap];0.91[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs7634611	0.84[ASN][1000 genomes]
rs7644928	0.85[EUR][1000 genomes]
rs7645050	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7645544	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7645849	0.84[ASN][1000 genomes]
rs7645869	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7650439	0.84[ASN][1000 genomes]
rs7650658	0.84[ASN][1000 genomes]
rs9849118	0.84[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	nsv521397	chr3:120970900-121192350	Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	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
7	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
8	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

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:121139200-121186000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr3:121141200-121186000	Weak transcription	NHEK	skin
3	chr3:121146000-121185800	Weak transcription	Fetal Stomach	stomach
4	chr3:121146200-121185600	Weak transcription	Fetal Muscle Trunk	muscle
5	chr3:121146400-121185800	Weak transcription	Fetal Intestine Large	intestine
6	chr3:121148400-121199600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr3:121149400-121196600	Weak transcription	NH-A	brain
8	chr3:121149400-121199600	Weak transcription	Fetal Lung	lung
9	chr3:121151200-121185800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr3:121151200-121193400	Weak transcription	HSMM	muscle
11	chr3:121151200-121263800	Weak transcription	Duodenum Mucosa	Duodenum
12	chr3:121151400-121185600	Weak transcription	HUVEC	blood vessel
13	chr3:121168600-121184600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr3:121171600-121185400	Weak transcription	HepG2	liver
15	chr3:121171600-121186200	Weak transcription	Fetal Intestine Small	intestine
16	chr3:121175400-121185800	Weak transcription	NHDF-Ad	bronchial
17	chr3:121176200-121197000	Weak transcription	Fetal Kidney	kidney
18	chr3:121176400-121214800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr3:121176400-121224200	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr3:121176800-121186000	Weak transcription	Primary T cells from cord blood	blood
21	chr3:121176800-121187600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr3:121177200-121237000	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr3:121177400-121204000	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr3:121177400-121205200	Strong transcription	HUES48 Cell Line	embryonic stem cell
25	chr3:121177800-121185800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr3:121177800-121197000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr3:121177800-121214800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr3:121178000-121184400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr3:121178000-121184600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr3:121178000-121184800	Weak transcription	Primary hematopoietic stem cells	blood
31	chr3:121178000-121185800	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr3:121178000-121185800	Weak transcription	Fetal Muscle Leg	muscle
33	chr3:121178000-121185800	Weak transcription	K562	blood
34	chr3:121178000-121187600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr3:121178000-121196600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr3:121178000-121208600	Weak transcription	Fetal Heart	heart
37	chr3:121178200-121184400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr3:121178200-121196600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr3:121178200-121263800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
40	chr3:121178400-121184800	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr3:121178400-121204800	Strong transcription	Dnd41	blood
42	chr3:121179000-121186600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr3:121179600-121184600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr3:121179800-121185600	Weak transcription	Hela-S3	cervix
45	chr3:121180800-121187200	Strong transcription	H1 Cell Line	embryonic stem cell
46	chr3:121181000-121184800	Strong transcription	GM12878-XiMat	blood
47	chr3:121181000-121219600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr3:121181400-121198400	Strong transcription	HUES64 Cell Line	embryonic stem cell
49	chr3:121181600-121197800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
50	chr3:121181600-121204000	Strong transcription	iPS-18 Cell Line	embryonic stem cell

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