Variant report

Variant	rs61792508
Chromosome Location	chr4:3128557-3128558
allele	A/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	POLR2A	chr4:3128461-3129287	GM12891	blood:	n/a	n/a
2	POLR2A	chr4:3128521-3128667	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:3122978..3125681-chr4:3127694..3131057,3	K562	blood:

Variant related genes	Relation type
HTT	TF binding region
ENSG00000197386	Chromatin interaction

Extended variants
information (count: 77 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs10021254	1.00[ASN][1000 genomes]
rs10034669	1.00[ASN][1000 genomes]
rs10155264	1.00[ASN][1000 genomes]
rs10488840	1.00[ASN][1000 genomes]
rs1065745	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16843803	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16843824	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16844026	1.00[ASN][1000 genomes]
rs16844028	1.00[ASN][1000 genomes]
rs17780617	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2003530	1.00[ASN][1000 genomes]
rs28436280	1.00[ASN][1000 genomes]
rs28507598	1.00[ASN][1000 genomes]
rs28643391	1.00[ASN][1000 genomes]
rs3025825	1.00[ASN][1000 genomes]
rs3025849	1.00[EUR][1000 genomes]
rs3025851	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34045730	1.00[ASN][1000 genomes]
rs34591077	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs362269	1.00[ASN][1000 genomes]
rs362278	1.00[ASN][1000 genomes]
rs362303	1.00[ASN][1000 genomes]
rs362304	1.00[ASN][1000 genomes]
rs362305	1.00[ASN][1000 genomes]
rs362310	1.00[ASN][1000 genomes]
rs362323	1.00[ASN][1000 genomes]
rs362325	1.00[ASN][1000 genomes]
rs363065	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs363067	1.00[EUR][1000 genomes]
rs363068	1.00[EUR][1000 genomes]
rs363069	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs363071	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs363074	1.00[EUR][1000 genomes]
rs363078	1.00[ASN][1000 genomes]
rs363084	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs363087	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs363089	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs363094	1.00[ASN][1000 genomes]
rs363095	1.00[ASN][1000 genomes]
rs363103	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs363104	0.84[EUR][1000 genomes]
rs363105	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs363128	1.00[ASN][1000 genomes]
rs56794194	1.00[ASN][1000 genomes]
rs57196404	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59588638	1.00[ASN][1000 genomes]
rs61460614	1.00[ASN][1000 genomes]
rs61583241	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61790489	1.00[ASN][1000 genomes]
rs61790490	1.00[ASN][1000 genomes]
rs61792472	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61792477	1.00[ASN][1000 genomes]
rs61792500	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61792501	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61792502	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61792503	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61792505	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61792507	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61792509	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61792510	1.00[ASN][1000 genomes]
rs61792512	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61792515	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61792531	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61792532	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61792533	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73073018	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7440822	0.95[AFR][1000 genomes]
rs7674122	1.00[ASN][1000 genomes]
rs7683309	1.00[ASN][1000 genomes]
rs7686771	1.00[ASN][1000 genomes]
rs7692292	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7699037	1.00[ASN][1000 genomes]
rs9993781	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3418626	chr4:2741174-3461492	Genic enhancers Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	esv3397632	chr4:2741239-3460583	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer 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	63 gene(s)	inside rSNPs	diseases
3	nsv461163	chr4:2906285-3234980	Enhancers Strong transcription Flanking Active TSS Genic enhancers Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
4	nsv593437	chr4:2906285-3234980	Genic enhancers Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:3088200-3164200	Strong transcription	Primary monocytes fromperipheralblood	blood
2	chr4:3097200-3143400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr4:3097200-3162200	Strong transcription	HUES64 Cell Line	embryonic stem cell
4	chr4:3097400-3163800	Strong transcription	HUES48 Cell Line	embryonic stem cell
5	chr4:3098000-3162600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr4:3100000-3159400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr4:3106400-3145000	Strong transcription	Dnd41	blood
8	chr4:3108600-3136600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr4:3108600-3163000	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr4:3108800-3164600	Strong transcription	Primary neutrophils fromperipheralblood	blood
11	chr4:3109200-3142600	Strong transcription	GM12878-XiMat	blood
12	chr4:3109400-3130400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr4:3114600-3292400	Weak transcription	Right Atrium	heart
14	chr4:3114800-3162800	Strong transcription	HUES6 Cell Line	embryonic stem cell
15	chr4:3115800-3143400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
16	chr4:3115800-3161600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr4:3115800-3162800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
18	chr4:3116000-3136200	Strong transcription	Liver	Liver
19	chr4:3117800-3129000	Weak transcription	Psoas Muscle	Psoas
20	chr4:3118200-3128600	Weak transcription	Small Intestine	intestine
21	chr4:3118400-3133600	Weak transcription	Hela-S3	cervix
22	chr4:3118600-3128800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr4:3118800-3132200	Weak transcription	K562	blood
24	chr4:3119000-3133000	Weak transcription	HMEC	breast
25	chr4:3119800-3128600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr4:3120400-3128600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr4:3120400-3128600	Weak transcription	Spleen	Spleen
28	chr4:3122000-3130600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr4:3124000-3128600	Weak transcription	Right Ventricle	heart
30	chr4:3124000-3135400	Weak transcription	Stomach Mucosa	stomach
31	chr4:3124200-3128600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr4:3124200-3128600	Weak transcription	Brain Germinal Matrix	brain
33	chr4:3124200-3128600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr4:3124200-3128800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr4:3124200-3128800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr4:3124200-3128800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr4:3124200-3129000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr4:3124200-3132600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr4:3124200-3138400	Strong transcription	NH-A	brain
40	chr4:3124400-3128600	Weak transcription	Brain Anterior Caudate	brain
41	chr4:3124400-3128800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr4:3124800-3138000	Strong transcription	Primary T cells from cord blood	blood
43	chr4:3125200-3163000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr4:3125200-3163200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr4:3125400-3130400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr4:3125400-3132600	Weak transcription	Fetal Heart	heart
47	chr4:3125400-3145000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
48	chr4:3126000-3137000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr4:3126000-3137800	Strong transcription	Thymus	Thymus
50	chr4:3126000-3144000	Strong transcription	Left Ventricle	heart

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