Variant report

Variant	rs61844817
Chromosome Location	chr10:43308058-43308059
allele	A/G/T
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	PAX5	chr10:43307893-43308370	GM12878	blood:	n/a	n/a
2	SPI1	chr10:43307860-43308093	K562	blood:	n/a	n/a
3	SPI1	chr10:43307874-43308091	K562	blood:	n/a	n/a
4	SIX5	chr10:43307908-43308189	K562	blood:	n/a	n/a
5	PBX3	chr10:43307952-43308132	GM12878	blood:	n/a	n/a
6	JUND	chr10:43307934-43308401	HepG2	liver:	n/a	n/a
7	EBF1	chr10:43307960-43308173	GM12878	blood:	n/a	n/a
8	ZBTB33	chr10:43307866-43308188	K562	blood:	n/a	n/a
9	SPI1	chr10:43307901-43308081	GM12878	blood:	n/a	n/a
10	FOSL2	chr10:43307899-43308399	HepG2	liver:	n/a	n/a
11	SPI1	chr10:43307859-43308215	GM12878	blood:	n/a	n/a
12	POLR2A	chr10:43307899-43308294	GM12878	blood:	n/a	n/a
13	POU2F2	chr10:43307822-43308414	GM12878	blood:	n/a	n/a
14	GABPA	chr10:43307944-43308092	Hela-S3	cervix:	n/a	n/a
15	SP1	chr10:43307922-43308180	GM12878	blood:	n/a	n/a
16	POLR2A	chr10:43307704-43308529	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr10:43307908-43308286	GM12878	blood:	n/a	n/a
18	PAX5	chr10:43307943-43308338	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000238732	TF binding region

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

rSNPs within LD-proxies of this variant (count:118)

rs_ID	r²[population]
rs1085783	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1091925	0.92[EUR][1000 genomes]
rs1342143	1.00[ASN][1000 genomes]
rs17158193	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17159047	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17159071	0.97[EUR][1000 genomes]
rs17159198	1.00[EUR][1000 genomes]
rs17344904	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17344997	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17345889	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17429275	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17429415	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17430796	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17431976	1.00[ASN][1000 genomes]
rs17432011	1.00[ASN][1000 genomes]
rs1775069	1.00[ASN][1000 genomes]
rs1935644	1.00[ASN][1000 genomes]
rs2051043	1.00[ASN][1000 genomes]
rs2078397	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];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[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41295811	1.00[ASN][1000 genomes]
rs41295813	1.00[ASN][1000 genomes]
rs515365	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61736599	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61842935	1.00[ASN][1000 genomes]
rs61843368	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61843371	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61843372	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61843373	1.00[ASN][1000 genomes]
rs61843374	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];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]
rs61843457	1.00[ASN][1000 genomes]
rs61843459	1.00[ASN][1000 genomes]
rs61843895	1.00[ASN][1000 genomes]
rs61843955	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61843956	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61843958	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61843959	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61844760	1.00[ASN][1000 genomes]
rs61844763	1.00[ASN][1000 genomes]
rs61844765	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61844766	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs61844768	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61844770	1.00[ASN][1000 genomes]
rs61844771	1.00[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61844772	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61844774	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61844775	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61844813	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61844814	0.97[EUR][1000 genomes]
rs61844815	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61844816	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61844821	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61844822	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61844827	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61844828	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61844829	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61844830	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs61844832	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61844835	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61844837	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61844848	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61844849	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61844854	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61845260	1.00[ASN][1000 genomes]
rs61845261	1.00[ASN][1000 genomes]
rs61845262	1.00[ASN][1000 genomes]
rs61845264	1.00[ASN][1000 genomes]
rs61845265	1.00[ASN][1000 genomes]
rs61845266	1.00[ASN][1000 genomes]
rs61845268	1.00[ASN][1000 genomes]
rs61845269	1.00[ASN][1000 genomes]
rs61845270	1.00[ASN][1000 genomes]
rs61845271	1.00[ASN][1000 genomes]
rs61845272	1.00[ASN][1000 genomes]
rs61845273	1.00[ASN][1000 genomes]
rs61845274	1.00[ASN][1000 genomes]
rs61845279	1.00[ASN][1000 genomes]
rs61845280	1.00[ASN][1000 genomes]
rs61845281	1.00[ASN][1000 genomes]
rs61845282	1.00[ASN][1000 genomes]
rs61845306	1.00[ASN][1000 genomes]
rs61845307	1.00[ASN][1000 genomes]
rs61845308	1.00[ASN][1000 genomes]
rs61845309	1.00[ASN][1000 genomes]
rs61845310	1.00[ASN][1000 genomes]
rs61845311	1.00[ASN][1000 genomes]
rs61845312	1.00[ASN][1000 genomes]
rs61845314	1.00[ASN][1000 genomes]
rs61845315	1.00[ASN][1000 genomes]
rs61845963	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61845964	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs638507	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7074380	1.00[ASN][1000 genomes]
rs7089165	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7091439	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7097557	1.00[ASN][1000 genomes]
rs74135429	1.00[ASN][1000 genomes]
rs788248	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs788250	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs788286	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs788294	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7904220	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7908539	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7915796	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7923121	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 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	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
12	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
13	nsv430159	chr10:43291894-43946294	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
14	nsv947891	chr10:43299039-43319274	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
15	esv14695	chr10:43301539-43355457	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers 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	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:43279800-43308400	Strong transcription	Fetal Intestine Large	intestine
2	chr10:43279800-43308800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr10:43279800-43309000	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr10:43279800-43324000	Strong transcription	Liver	Liver
5	chr10:43279800-43328200	Strong transcription	Primary T helper cells fromperipheralblood	blood
6	chr10:43280000-43309600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr10:43280000-43310800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr10:43280200-43310600	Strong transcription	Primary T cells from cord blood	blood
9	chr10:43281000-43308600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr10:43282400-43308200	Strong transcription	Primary T helper cells PMA-I stimulated	--
11	chr10:43293200-43332400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr10:43294400-43311800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr10:43294600-43322800	Weak transcription	Stomach Mucosa	stomach
14	chr10:43295000-43309400	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr10:43295600-43311800	Weak transcription	Pancreas	Pancrea
16	chr10:43296600-43309400	Weak transcription	Small Intestine	intestine
17	chr10:43296800-43311800	Weak transcription	Colonic Mucosa	Colon
18	chr10:43298800-43313000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr10:43299600-43309400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr10:43299600-43309600	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr10:43299600-43318600	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr10:43299800-43309200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr10:43299800-43312400	Weak transcription	HSMMtube	muscle
24	chr10:43299800-43313000	Weak transcription	Brain Cingulate Gyrus	brain
25	chr10:43300000-43312800	Weak transcription	Fetal Brain Male	brain
26	chr10:43300000-43318000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr10:43300800-43310600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr10:43301200-43308200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr10:43301200-43309200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr10:43301600-43323000	Weak transcription	HMEC	breast
31	chr10:43301800-43318000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr10:43301800-43325800	Weak transcription	NHLF	lung
33	chr10:43302000-43311400	Weak transcription	HepG2	liver
34	chr10:43302600-43312800	Weak transcription	Fetal Kidney	kidney
35	chr10:43302800-43309400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr10:43302800-43313000	Weak transcription	Brain Hippocampus Middle	brain
37	chr10:43303000-43317800	Weak transcription	NH-A	brain
38	chr10:43303200-43311800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr10:43303200-43311800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr10:43303200-43313000	Weak transcription	Brain Substantia Nigra	brain
41	chr10:43303200-43313200	Weak transcription	Right Ventricle	heart
42	chr10:43303200-43322200	Weak transcription	Psoas Muscle	Psoas
43	chr10:43303400-43309600	Weak transcription	Brain Germinal Matrix	brain
44	chr10:43303400-43310000	Weak transcription	Stomach Smooth Muscle	stomach
45	chr10:43303400-43312400	Weak transcription	Left Ventricle	heart
46	chr10:43303400-43313000	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr10:43303400-43313000	Weak transcription	Rectal Smooth Muscle	rectum
48	chr10:43303600-43309400	Weak transcription	HSMM	muscle
49	chr10:43303600-43311800	Weak transcription	Osteobl	bone
50	chr10:43303600-43325800	Weak transcription	Colon Smooth Muscle	Colon

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