Variant report

Variant	rs1024817
Chromosome Location	chr7:103846110-103846111
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:103844120..103846835-chr7:103848105..103849807,2	MCF-7	breast:
2	chr7:103835421..103837340-chr7:103844960..103847432,2	K562	blood:
3	chr5:172756464..172758729-chr7:103845451..103847113,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164815	Chromatin interaction
ENSG00000113739	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10230891	0.82[ASN][1000 genomes]
rs10239281	0.91[JPT][hapmap]
rs10269939	0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs1035168	0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs11976032	0.81[ASN][1000 genomes]
rs11984388	0.91[JPT][hapmap]
rs12536622	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12538723	0.83[MEX][hapmap]
rs12539921	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12705177	0.91[JPT][hapmap]
rs12705185	0.82[ASN][1000 genomes]
rs12705189	0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs17158452	0.85[EUR][1000 genomes]
rs17158464	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs194836	0.91[JPT][hapmap]
rs194840	0.91[JPT][hapmap]
rs194842	0.91[JPT][hapmap]
rs194845	0.95[CHB][hapmap];0.91[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs194850	0.91[JPT][hapmap]
rs194853	0.90[JPT][hapmap]
rs194854	0.91[JPT][hapmap]
rs194860	0.87[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2058720	0.89[JPT][hapmap]
rs2188245	1.00[CEU][hapmap]
rs2299407	0.91[JPT][hapmap]
rs2307400	0.82[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs28767289	0.97[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs3808011	0.90[JPT][hapmap]
rs3808012	0.95[JPT][hapmap]
rs3808013	0.91[JPT][hapmap]
rs4461829	0.80[ASN][1000 genomes]
rs4729954	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4729955	0.85[EUR][1000 genomes]
rs4729956	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4729962	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4729963	0.86[ASN][1000 genomes]
rs4729971	0.82[ASN][1000 genomes]
rs4729973	0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs4729992	1.00[CEU][hapmap]
rs55848	0.91[JPT][hapmap]
rs56022599	0.85[EUR][1000 genomes]
rs66797006	0.85[EUR][1000 genomes]
rs67580058	0.85[EUR][1000 genomes]
rs6944360	0.91[JPT][hapmap]
rs6952639	0.86[JPT][hapmap]
rs6975834	0.83[CHB][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs6979022	0.91[JPT][hapmap]
rs6979695	0.84[JPT][hapmap]
rs714519	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73187416	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73189312	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7350041	0.82[CHB][hapmap];0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs741325	0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs7778396	0.90[JPT][hapmap]
rs7795570	0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs7806228	0.83[CHB][hapmap];0.91[JPT][hapmap];0.80[ASN][1000 genomes]
rs9641322	0.91[JPT][hapmap]
rs9656092	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019640	chr7:103813522-103884705	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
2	nsv1026481	chr7:103813522-103890770	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
3	esv2762692	chr7:103813522-103890782	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
4	nsv526062	chr7:103817597-103891085	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
5	nsv608065	chr7:103817597-103990755	Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	14 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	chr7:103797200-103847000	Weak transcription	Fetal Heart	heart
2	chr7:103816000-103846200	Weak transcription	Stomach Mucosa	stomach
3	chr7:103832800-103846600	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr7:103839800-103847400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr7:103840000-103847200	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr7:103840000-103847600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr7:103840400-103847800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr7:103840600-103847800	Weak transcription	Small Intestine	intestine
9	chr7:103841000-103846200	Weak transcription	NHLF	lung
10	chr7:103841800-103846800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr7:103841800-103846800	Weak transcription	Fetal Intestine Small	intestine
12	chr7:103842400-103847200	Weak transcription	HSMMtube	muscle
13	chr7:103842400-103847400	Weak transcription	Lung	lung
14	chr7:103842600-103846200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr7:103842600-103846800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr7:103843200-103846400	Weak transcription	Brain Germinal Matrix	brain
17	chr7:103843600-103846200	Weak transcription	Psoas Muscle	Psoas
18	chr7:103843800-103846200	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr7:103843800-103846800	Weak transcription	Colonic Mucosa	Colon
20	chr7:103843800-103846800	Weak transcription	Fetal Stomach	stomach
21	chr7:103843800-103847200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr7:103843800-103847600	Weak transcription	Aorta	Aorta
23	chr7:103844000-103846200	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr7:103844000-103846200	Weak transcription	Brain Angular Gyrus	brain
25	chr7:103844000-103846200	Weak transcription	Fetal Brain Female	brain
26	chr7:103844000-103846400	Weak transcription	Fetal Kidney	kidney
27	chr7:103844000-103846400	Weak transcription	Rectal Smooth Muscle	rectum
28	chr7:103844000-103846800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr7:103844000-103847200	Weak transcription	Left Ventricle	heart
30	chr7:103844000-103847600	Weak transcription	Gastric	stomach
31	chr7:103844200-103846200	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr7:103844200-103846200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr7:103844200-103846200	Weak transcription	Brain Hippocampus Middle	brain
34	chr7:103844200-103846200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr7:103844200-103846200	Weak transcription	Ovary	ovary
36	chr7:103844200-103846200	Weak transcription	Right Ventricle	heart
37	chr7:103844200-103846200	Weak transcription	Thymus	Thymus
38	chr7:103844200-103846200	Weak transcription	Spleen	Spleen
39	chr7:103844200-103846200	Weak transcription	Osteobl	bone
40	chr7:103844200-103846800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr7:103844200-103847000	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr7:103844200-103847200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr7:103844200-103847200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr7:103844200-103847200	Weak transcription	Fetal Thymus	thymus
45	chr7:103844200-103847400	Weak transcription	Esophagus	oesophagus
46	chr7:103844200-103847400	Weak transcription	Fetal Muscle Trunk	muscle
47	chr7:103844200-103847400	Weak transcription	Fetal Muscle Leg	muscle
48	chr7:103844200-103847400	Weak transcription	Placenta	Placenta
49	chr7:103844200-103847600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr7:103844400-103846200	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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