Variant report

Variant	rs61844770
Chromosome Location	chr10:43249083-43249084
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr10:43248315-43250857	HCT-116	colon:	n/a	n/a
2	RAD21	chr10:43248430-43249183	SK-N-SH	brain:	n/a	chr10:43248719-43248732
3	CTCF	chr10:43249080-43249230	BE2_C	brain:	n/a	n/a
4	RAD21	chr10:43248411-43249173	HCT-116	colon:	n/a	chr10:43248719-43248732
5	MAX	chr10:43248438-43249414	H1-hESC	embryonic stem cell:	n/a	n/a
6	E2F6	chr10:43249012-43249372	K562	blood:	n/a	chr10:43249171-43249181 chr10:43249209-43249220
7	RAD21	chr10:43248559-43249086	A549	lung:	n/a	chr10:43248719-43248732
8	RAD21	chr10:43248595-43249133	H1-hESC	embryonic stem cell:	n/a	chr10:43248719-43248732
9	MAX	chr10:43248960-43249435	ECC-1	luminal epithelium:	n/a	n/a
10	SMC3	chr10:43248547-43249471	SK-N-SH	brain:	n/a	chr10:43248782-43248792
11	CTCF	chr10:43248432-43249374	SK-N-SH	brain:	n/a	chr10:43248777-43248793 chr10:43248779-43248792
12	E2F6	chr10:43249044-43249396	K562	blood:	n/a	chr10:43249171-43249181 chr10:43249209-43249220
13	E2F6	chr10:43249025-43249401	H1-hESC	embryonic stem cell:	n/a	chr10:43249171-43249181 chr10:43249209-43249220
14	TCF12	chr10:43248499-43249107	A549	lung:	n/a	chr10:43248897-43248905
15	CTCF	chr10:43248409-43249122	HCT-116	colon:	n/a	chr10:43248777-43248793 chr10:43248779-43248792
16	MAX	chr10:43248494-43249440	ECC-1	luminal epithelium:	n/a	n/a
17	MAX	chr10:43248494-43249420	K562	blood:	n/a	n/a
18	ZNF263	chr10:43248603-43249233	HEK293-T-REx	kidney:	n/a	chr10:43248773-43248782
19	E2F6	chr10:43248428-43249559	A549	lung:	n/a	chr10:43248782-43248792 chr10:43249171-43249181 chr10:43249209-43249220 chr10:43248745-43248752
20	E2F6	chr10:43249030-43249445	A549	lung:	n/a	chr10:43249171-43249181 chr10:43249209-43249220
21	MAX	chr10:43248631-43249356	SK-N-SH	brain:	n/a	n/a
22	MAZ	chr10:43248468-43249088	IMR90	lung:	n/a	n/a
23	MAX	chr10:43248485-43249413	A549	lung:	n/a	n/a
24	CTBP2	chr10:43248525-43249930	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr10:43249031-43249337	HUVEC	blood vessel:	n/a	n/a
26	RAD21	chr10:43248505-43249112	HCT-116	colon:	n/a	chr10:43248719-43248732
27	E2F6	chr10:43248343-43249447	H1-hESC	embryonic stem cell:	n/a	chr10:43248782-43248792 chr10:43249171-43249181 chr10:43249209-43249220 chr10:43248745-43248752
28	MAX	chr10:43248353-43250123	A549	lung:	n/a	n/a
29	MAX	chr10:43248471-43249398	H1-hESC	embryonic stem cell:	n/a	n/a
30	EP300	chr10:43248546-43249128	SK-N-SH	brain:	n/a	chr10:43248748-43248757 chr10:43248750-43248759 chr10:43248572-43248581
31	TCF7L2	chr10:43248542-43249298	HCT-116	colon:	n/a	n/a
32	GABPA	chr10:43249034-43249343	A549	lung:	n/a	n/a
33	GABPA	chr10:43249002-43249447	K562	blood:	n/a	n/a
34	CTCF	chr10:43248236-43249453	A549	lung:	n/a	chr10:43248777-43248793 chr10:43248779-43248792

Variant related genes	Relation type
DUXAP3	TF binding region
ENSG00000259869	TF binding region

Extended variants
information (count: 98 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs1085783	1.00[ASN][1000 genomes]
rs1342143	1.00[ASN][1000 genomes]
rs17158193	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17159047	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17159071	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs17344904	1.00[ASN][1000 genomes]
rs17344997	1.00[ASN][1000 genomes]
rs17345889	1.00[ASN][1000 genomes]
rs17429275	1.00[ASN][1000 genomes]
rs17429415	1.00[ASN][1000 genomes]
rs17430796	1.00[ASN][1000 genomes]
rs1775069	1.00[ASN][1000 genomes]
rs1935644	1.00[ASN][1000 genomes]
rs2078397	1.00[ASN][1000 genomes]
rs2744082	1.00[ASN][1000 genomes]
rs2795505	1.00[ASN][1000 genomes]
rs2796563	1.00[ASN][1000 genomes]
rs2796565	1.00[ASN][1000 genomes]
rs41295810	1.00[ASN][1000 genomes]
rs515365	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61736599	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61842933	1.00[ASN][1000 genomes]
rs61842935	1.00[ASN][1000 genomes]
rs61843372	1.00[ASN][1000 genomes]
rs61843373	1.00[ASN][1000 genomes]
rs61843374	1.00[ASN][1000 genomes]
rs61843380	1.00[ASN][1000 genomes]
rs61843381	1.00[ASN][1000 genomes]
rs61843382	1.00[ASN][1000 genomes]
rs61843407	1.00[ASN][1000 genomes]
rs61843419	1.00[ASN][1000 genomes]
rs61843420	1.00[ASN][1000 genomes]
rs61843422	1.00[ASN][1000 genomes]
rs61843437	1.00[ASN][1000 genomes]
rs61843438	1.00[ASN][1000 genomes]
rs61843895	1.00[ASN][1000 genomes]
rs61843955	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61843956	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61843958	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61843959	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61844760	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61844763	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61844765	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61844766	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61844768	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61844771	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61844772	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61844774	1.00[ASN][1000 genomes]
rs61844775	1.00[ASN][1000 genomes]
rs61844813	1.00[ASN][1000 genomes]
rs61844814	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs61844815	1.00[ASN][1000 genomes]
rs61844816	1.00[ASN][1000 genomes]
rs61844817	1.00[ASN][1000 genomes]
rs61844821	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61844827	1.00[ASN][1000 genomes]
rs61844828	1.00[ASN][1000 genomes]
rs61844829	1.00[ASN][1000 genomes]
rs61844832	1.00[ASN][1000 genomes]
rs61844835	1.00[ASN][1000 genomes]
rs61844837	1.00[ASN][1000 genomes]
rs61844848	1.00[ASN][1000 genomes]
rs61844849	1.00[ASN][1000 genomes]
rs61844854	1.00[ASN][1000 genomes]
rs61845963	1.00[ASN][1000 genomes]
rs61845964	1.00[ASN][1000 genomes]
rs638507	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7089165	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7091439	1.00[ASN][1000 genomes]
rs788248	1.00[ASN][1000 genomes]
rs788250	1.00[ASN][1000 genomes]
rs788286	1.00[ASN][1000 genomes]
rs788294	1.00[ASN][1000 genomes]
rs7904220	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7908539	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7915796	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7923121	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv550672	chr10:42753190-43441729	Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv533331	chr10:42830221-43356410	ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv1042764	chr10:42846383-43511712	Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv1050394	chr10:42890663-43604956	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
5	nsv540573	chr10:42890663-43604956	Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
6	nsv534548	chr10:42890664-43729688	Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
7	esv2758216	chr10:42965131-43510191	Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
8	esv2759746	chr10:42965131-43510191	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
9	esv2757381	chr10:43104068-43352995	Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
10	esv34929	chr10:43116194-43329770	Weak transcription Bivalent Enhancer Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
11	esv2764213	chr10:43183225-43251704	Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Genic enhancers Strong transcription Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
12	nsv1036317	chr10:43189367-43253587	Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
13	nsv1045347	chr10:43197101-43253587	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
14	nsv1045144	chr10:43202223-43251692	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
15	nsv1047398	chr10:43202223-43253587	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
16	nsv1044275	chr10:43207270-43253587	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
17	nsv550694	chr10:43218552-43253587	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
18	nsv895076	chr10:43234432-43326627	Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
19	nsv1047838	chr10:43234590-43379219	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
20	nsv8626	chr10:43235537-43263641	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
21	nsv825349	chr10:43238099-43265011	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 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	chr10:43248200-43250000	Active TSS	Rectal Smooth Muscle	rectum
2	chr10:43248200-43250200	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr10:43248200-43250800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr10:43248200-43251000	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr10:43248200-43251200	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
6	chr10:43248400-43249200	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr10:43248400-43249200	Active TSS	Brain Angular Gyrus	brain
8	chr10:43248400-43249200	Active TSS	Colon Smooth Muscle	Colon
9	chr10:43248400-43249200	Active TSS	HSMM	muscle
10	chr10:43248400-43249400	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 31	rectum
11	chr10:43248400-43249600	Flanking Active TSS	Adipose Nuclei	Adipose
12	chr10:43248400-43249600	Active TSS	Pancreas	Pancrea
13	chr10:43248400-43249800	Active TSS	Brain Substantia Nigra	brain
14	chr10:43248400-43250000	Bivalent/Poised TSS	NHLF	lung
15	chr10:43248400-43250400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr10:43248400-43250400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
17	chr10:43248400-43250800	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr10:43248400-43250800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr10:43248400-43250800	Active TSS	Aorta	Aorta
20	chr10:43248400-43251000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
21	chr10:43248400-43251000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
22	chr10:43248400-43251000	Active TSS	Gastric	stomach
23	chr10:43248400-43251000	Active TSS	Right Atrium	heart
24	chr10:43248400-43251200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
25	chr10:43248400-43251400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
26	chr10:43248400-43251400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
27	chr10:43248600-43249200	Flanking Active TSS	Liver	Liver
28	chr10:43248600-43249200	Bivalent Enhancer	Spleen	Spleen
29	chr10:43248600-43249400	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
30	chr10:43248600-43249400	Flanking Bivalent TSS/Enh	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr10:43248600-43249400	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
32	chr10:43248600-43249600	Bivalent Enhancer	Fetal Brain Male	brain
33	chr10:43248600-43250200	Bivalent/Poised TSS	Primary T cells from cord blood	blood
34	chr10:43248600-43250200	Flanking Bivalent TSS/Enh	NHEK	skin
35	chr10:43248600-43250400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr10:43248600-43250400	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
37	chr10:43248600-43250400	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
38	chr10:43248600-43250600	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr10:43248600-43250600	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
40	chr10:43248600-43250600	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
41	chr10:43248600-43250600	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
42	chr10:43248600-43250600	Flanking Bivalent TSS/Enh	Primary mononuclear cells fromperipheralblood	Blood
43	chr10:43248600-43250600	Bivalent/Poised TSS	HSMMtube	muscle
44	chr10:43248600-43250800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
45	chr10:43248600-43250800	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
46	chr10:43248600-43250800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr10:43248600-43251000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
48	chr10:43248600-43251600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
49	chr10:43248800-43249200	Flanking Bivalent TSS/Enh	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr10:43248800-43249200	Flanking Bivalent TSS/Enh	Primary T helper 17 cells PMA-I stimulated	--

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