Variant report

Variant	rs6438630
Chromosome Location	chr3:121166776-121166777
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:121158690..121160312-chr3:121166384..121168910,2	K562	blood:

Extended variants
information (count: 110 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:102)

rs_ID	r²[population]
rs10451895	0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs10934551	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs11705939	0.92[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs11707252	0.96[ASN][1000 genomes]
rs11707354	0.90[ASN][1000 genomes]
rs11708438	0.98[ASN][1000 genomes]
rs11709726	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs11713643	0.81[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs11714746	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11714774	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11715085	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12233510	0.98[ASN][1000 genomes]
rs12488196	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12634017	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13059229	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs13065220	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs13076688	0.98[ASN][1000 genomes]
rs13077305	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13080007	0.90[AFR][1000 genomes]
rs13081748	0.98[ASN][1000 genomes]
rs13082118	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[EUR][1000 genomes]
rs13086811	0.98[ASN][1000 genomes]
rs13095550	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13095841	0.95[ASN][1000 genomes]
rs13097659	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs13100579	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1381057	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1381058	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs1381059	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs1986730	0.98[ASN][1000 genomes]
rs1987097	0.98[ASN][1000 genomes]
rs1987098	1.00[ASN][1000 genomes]
rs2030531	0.82[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2126139	0.96[ASN][1000 genomes]
rs2126140	0.95[ASN][1000 genomes]
rs2127024	1.00[ASN][1000 genomes]
rs2169300	0.98[ASN][1000 genomes]
rs2169301	0.86[AFR][1000 genomes]
rs2331921	0.95[ASN][1000 genomes]
rs2331962	0.83[AFR][1000 genomes]
rs3218649	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs3732405	0.91[ASN][1000 genomes]
rs3732406	1.00[JPT][hapmap];0.96[YRI][hapmap];0.86[AFR][1000 genomes]
rs3772122	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs3772124	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3806614	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs3843345	0.84[ASN][1000 genomes]
rs3845860	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3911713	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs4107754	0.96[ASN][1000 genomes]
rs4346498	0.96[ASN][1000 genomes]
rs4555467	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs4676677	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4676719	0.80[ASN][1000 genomes]
rs4676722	0.83[ASN][1000 genomes]
rs502643	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs524026	0.82[ASN][1000 genomes]
rs541818	0.86[ASN][1000 genomes]
rs587553	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs61796944	0.98[ASN][1000 genomes]
rs6438625	0.98[ASN][1000 genomes]
rs6438626	0.95[ASN][1000 genomes]
rs6438631	0.90[ASN][1000 genomes]
rs6438633	0.85[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs66922316	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6765310	0.98[ASN][1000 genomes]
rs6769377	0.82[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs6782025	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6782033	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6784324	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6787048	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs6793029	0.96[ASN][1000 genomes]
rs6793252	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6796068	0.98[ASN][1000 genomes]
rs6797376	0.82[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs6797682	0.84[EUR][1000 genomes]
rs6798699	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs6806191	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs693403	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs702019	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7609781	1.00[ASN][1000 genomes]
rs7612018	0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs7613752	0.84[ASN][1000 genomes]
rs7615529	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs7618570	0.98[ASN][1000 genomes]
rs7621376	0.85[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs7622867	0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs7622881	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7627978	1.00[ASN][1000 genomes]
rs7628081	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7632907	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs7633930	1.00[CHB][hapmap];0.88[JPT][hapmap];0.91[YRI][hapmap];0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7634611	1.00[ASN][1000 genomes]
rs7644928	0.91[ASN][1000 genomes]
rs7645027	0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs7645050	0.86[AFR][1000 genomes]
rs7645544	0.96[ASN][1000 genomes]
rs7645849	1.00[ASN][1000 genomes]
rs7645869	0.84[ASN][1000 genomes]
rs7650439	1.00[ASN][1000 genomes]
rs7650658	1.00[ASN][1000 genomes]
rs9849118	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	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:52 , 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	chr3:121140600-121170800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr3:121141200-121186000	Weak transcription	NHEK	skin
4	chr3:121146000-121177400	Weak transcription	Fetal Muscle Leg	muscle
5	chr3:121146000-121185800	Weak transcription	Fetal Stomach	stomach
6	chr3:121146200-121185600	Weak transcription	Fetal Muscle Trunk	muscle
7	chr3:121146400-121185800	Weak transcription	Fetal Intestine Large	intestine
8	chr3:121148000-121170800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr3:121148400-121199600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr3:121149400-121181000	Weak transcription	HMEC	breast
11	chr3:121149400-121196600	Weak transcription	NH-A	brain
12	chr3:121149400-121199600	Weak transcription	Fetal Lung	lung
13	chr3:121149800-121177400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr3:121149800-121177400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr3:121151200-121185800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr3:121151200-121193400	Weak transcription	HSMM	muscle
17	chr3:121151200-121263800	Weak transcription	Duodenum Mucosa	Duodenum
18	chr3:121151400-121185600	Weak transcription	HUVEC	blood vessel
19	chr3:121151800-121171000	Weak transcription	HepG2	liver
20	chr3:121151800-121177600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr3:121152600-121177400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr3:121153200-121167400	Weak transcription	A549	lung
23	chr3:121153200-121170400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr3:121153200-121177600	Weak transcription	K562	blood
25	chr3:121153800-121177400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr3:121155200-121168000	Weak transcription	Hela-S3	cervix
27	chr3:121155400-121168200	Weak transcription	Fetal Thymus	thymus
28	chr3:121155600-121177400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr3:121155800-121170400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr3:121155800-121177600	Weak transcription	Thymus	Thymus
31	chr3:121157400-121170400	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr3:121157800-121167600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr3:121158200-121168000	Weak transcription	Primary neutrophils fromperipheralblood	blood
34	chr3:121159600-121177400	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr3:121160400-121177400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr3:121160600-121167400	Weak transcription	GM12878-XiMat	blood
37	chr3:121161200-121167400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr3:121162800-121169000	Strong transcription	HUES64 Cell Line	embryonic stem cell
39	chr3:121163400-121169000	Strong transcription	Dnd41	blood
40	chr3:121164000-121168000	Weak transcription	Primary hematopoietic stem cells	blood
41	chr3:121164000-121170400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr3:121165000-121168000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr3:121165200-121169000	Strong transcription	Monocytes-CD14+_RO01746	blood
44	chr3:121165400-121169000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
45	chr3:121165800-121169000	Strong transcription	HUES6 Cell Line	embryonic stem cell
46	chr3:121165800-121171200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr3:121166200-121167200	Strong transcription	Cortex derived primary cultured neurospheres	brain
48	chr3:121166400-121167200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr3:121166400-121167400	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr3:121166400-121168800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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