Variant report

Variant	rs56021282
Chromosome Location	chr6:38115660-38115661
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	chr6:38110841..38113265-chr6:38114038..38117277,3	K562	blood:
2	chr6:38114905..38117201-chr6:38129166..38131210,2	MCF-7	breast:

Extended variants
information (count: 167 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:160)

rs_ID	r²[population]
rs10947717	1.00[ASN][1000 genomes]
rs10947719	1.00[ASN][1000 genomes]
rs11544072	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11751094	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11751706	1.00[ASN][1000 genomes]
rs11751937	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11752623	1.00[ASN][1000 genomes]
rs11752799	0.88[EUR][1000 genomes]
rs11753067	0.93[EUR][1000 genomes]
rs11753122	1.00[ASN][1000 genomes]
rs11753160	0.94[EUR][1000 genomes]
rs11753267	1.00[ASN][1000 genomes]
rs11753388	1.00[ASN][1000 genomes]
rs11753391	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11753408	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11753437	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11753563	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11753759	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11754816	1.00[ASN][1000 genomes]
rs11754980	1.00[ASN][1000 genomes]
rs11755190	0.93[EUR][1000 genomes]
rs11755192	0.93[EUR][1000 genomes]
rs11755439	1.00[ASN][1000 genomes]
rs11755600	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11755721	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11755894	1.00[ASN][1000 genomes]
rs11756030	1.00[ASN][1000 genomes]
rs11756626	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11756902	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11757072	0.83[EUR][1000 genomes]
rs11757143	0.85[EUR][1000 genomes]
rs11757654	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11757980	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11758095	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11758540	1.00[ASN][1000 genomes]
rs11759205	1.00[ASN][1000 genomes]
rs11759483	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11759816	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11759859	0.93[EUR][1000 genomes]
rs11760121	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12202202	1.00[ASN][1000 genomes]
rs12202872	1.00[ASN][1000 genomes]
rs12662543	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12662940	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12664900	0.83[EUR][1000 genomes]
rs1923280	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1931760	1.00[ASN][1000 genomes]
rs1931761	1.00[ASN][1000 genomes]
rs2073021	0.90[EUR][1000 genomes]
rs2145887	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2281265	0.93[EUR][1000 genomes]
rs2395692	0.93[EUR][1000 genomes]
rs2395693	0.93[EUR][1000 genomes]
rs35142414	1.00[ASN][1000 genomes]
rs3800364	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4336442	1.00[ASN][1000 genomes]
rs55707043	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55731063	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55743233	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55786741	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55825770	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55836194	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55878533	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55902626	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55972258	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55990078	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56020526	1.00[ASN][1000 genomes]
rs56030069	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56073681	1.00[ASN][1000 genomes]
rs56106114	1.00[ASN][1000 genomes]
rs56178553	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56195121	0.93[EUR][1000 genomes]
rs56206533	1.00[ASN][1000 genomes]
rs56229452	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56247028	0.93[EUR][1000 genomes]
rs56296639	0.84[EUR][1000 genomes]
rs56308246	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56341927	1.00[ASN][1000 genomes]
rs56366053	1.00[ASN][1000 genomes]
rs56413211	1.00[ASN][1000 genomes]
rs56914148	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs57040650	1.00[ASN][1000 genomes]
rs57142729	0.83[EUR][1000 genomes]
rs57180729	1.00[ASN][1000 genomes]
rs57405566	0.93[EUR][1000 genomes]
rs57564251	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58003999	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58332635	0.83[EUR][1000 genomes]
rs58418493	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59450336	1.00[ASN][1000 genomes]
rs59578279	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs59684841	0.93[EUR][1000 genomes]
rs59693994	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60109083	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60986358	0.93[EUR][1000 genomes]
rs72849820	1.00[ASN][1000 genomes]
rs72851423	1.00[ASN][1000 genomes]
rs73417963	1.00[ASN][1000 genomes]
rs73417971	1.00[ASN][1000 genomes]
rs73417972	1.00[ASN][1000 genomes]
rs73417996	1.00[ASN][1000 genomes]
rs73417997	1.00[ASN][1000 genomes]
rs73419907	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73419916	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73419919	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73419927	0.83[EUR][1000 genomes]
rs73419938	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73419941	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73419944	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73419945	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73419946	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73419947	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73419949	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73419955	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73419959	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73419960	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73419963	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73419971	1.00[ASN][1000 genomes]
rs73419996	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73421427	1.00[ASN][1000 genomes]
rs73421433	1.00[ASN][1000 genomes]
rs73421444	1.00[ASN][1000 genomes]
rs73421455	1.00[ASN][1000 genomes]
rs73421464	1.00[ASN][1000 genomes]
rs73421467	1.00[ASN][1000 genomes]
rs73421473	1.00[ASN][1000 genomes]
rs73421477	1.00[ASN][1000 genomes]
rs73421479	1.00[ASN][1000 genomes]
rs73421483	1.00[ASN][1000 genomes]
rs73421810	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73421817	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73421819	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73421822	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73421825	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73421831	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73421842	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73421855	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73421866	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73421874	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73421889	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73421902	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73423525	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7748392	0.93[EUR][1000 genomes]
rs7760452	0.90[EUR][1000 genomes]
rs876818	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9369034	1.00[ASN][1000 genomes]
rs9462389	0.94[EUR][1000 genomes]
rs9462393	0.93[EUR][1000 genomes]
rs9462394	0.93[EUR][1000 genomes]
rs9462395	0.93[EUR][1000 genomes]
rs9462396	0.90[EUR][1000 genomes]
rs9462403	1.00[ASN][1000 genomes]
rs9470765	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9470772	0.85[EUR][1000 genomes]
rs9470779	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9470784	0.90[EUR][1000 genomes]
rs9470794	0.88[EUR][1000 genomes]
rs9470796	0.91[EUR][1000 genomes]
rs9470798	0.91[EUR][1000 genomes]
rs9470802	0.93[EUR][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	nsv1028825	chr6:37495154-38278320	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv1020625	chr6:37833591-38155622	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv1021991	chr6:37893949-38738720	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	esv2754649	chr6:37985025-38147910	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
5	nsv885817	chr6:38036420-39019503	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers 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	26 gene(s)	inside rSNPs	diseases
6	nsv534620	chr6:38049585-38602064	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
7	nsv524213	chr6:38106844-38160627	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:38075200-38118200	Weak transcription	Colonic Mucosa	Colon
2	chr6:38081800-38121800	Weak transcription	Psoas Muscle	Psoas
3	chr6:38084000-38122200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr6:38084600-38124200	Weak transcription	Hela-S3	cervix
5	chr6:38087600-38118800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr6:38091200-38119800	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr6:38091400-38116000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr6:38091400-38141800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr6:38092800-38117000	Weak transcription	Spleen	Spleen
10	chr6:38095200-38122600	Weak transcription	A549	lung
11	chr6:38096000-38116000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr6:38099600-38117800	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr6:38099800-38119600	Weak transcription	Aorta	Aorta
14	chr6:38103000-38127200	Weak transcription	Colon Smooth Muscle	Colon
15	chr6:38104000-38118400	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr6:38104600-38119600	Weak transcription	Gastric	stomach
17	chr6:38104600-38119600	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr6:38105600-38116200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr6:38106000-38116200	Weak transcription	Fetal Thymus	thymus
20	chr6:38107000-38116200	Weak transcription	Dnd41	blood
21	chr6:38107400-38116400	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr6:38109200-38123000	Weak transcription	Ovary	ovary
23	chr6:38109200-38129000	Weak transcription	Rectal Smooth Muscle	rectum
24	chr6:38110200-38122200	Weak transcription	HUVEC	blood vessel
25	chr6:38110600-38116000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr6:38110600-38116000	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr6:38111000-38117400	Weak transcription	Right Atrium	heart
28	chr6:38111000-38118600	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr6:38111200-38116200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr6:38111200-38116400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr6:38111200-38119800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr6:38111200-38122400	Weak transcription	Primary hematopoietic stem cells	blood
33	chr6:38111400-38117200	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr6:38111600-38117400	Weak transcription	Primary T helper cells fromperipheralblood	blood
35	chr6:38111800-38119600	Weak transcription	HSMMtube	muscle
36	chr6:38111800-38119800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr6:38111800-38120000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr6:38111800-38138200	Weak transcription	Fetal Brain Female	brain
39	chr6:38112400-38116800	Weak transcription	Stomach Smooth Muscle	stomach
40	chr6:38112400-38128400	Weak transcription	Brain Germinal Matrix	brain
41	chr6:38112400-38138200	Weak transcription	Fetal Brain Male	brain
42	chr6:38112800-38121200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr6:38113000-38116400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr6:38113000-38117200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr6:38113000-38121000	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr6:38113000-38127800	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr6:38113200-38116000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr6:38113200-38116400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr6:38113200-38116600	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr6:38113200-38116600	Weak transcription	Fetal Intestine Large	intestine

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