Variant report

Variant	rs10243993
Chromosome Location	chr7:97788042-97788043
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:97736053..97738623-chr7:97787716..97789963,2	MCF-7	breast:
2	chr7:97787814..97789772-chr7:97791387..97793183,2	MCF-7	breast:
3	chr7:97785345..97788078-chr7:97789745..97792184,3	K562	blood:
4	chr7:97782886..97785109-chr7:97786892..97788844,2	K562	blood:

Variant related genes	Relation type
ENSG00000164715	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10215577	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10216274	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10227681	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10230846	0.80[ASN][1000 genomes]
rs10231625	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10232153	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10241172	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10252338	0.85[AMR][1000 genomes]
rs10256262	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10261777	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.91[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10270280	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10276472	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10282336	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10282640	0.91[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12704966	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12704976	0.86[CHB][hapmap];0.90[JPT][hapmap];0.81[YRI][hapmap];0.82[ASN][1000 genomes]
rs13221415	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13221480	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13228463	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.89[YRI][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13228540	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs13241860	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13247901	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1532381	0.84[ASN][1000 genomes]
rs16869462	0.85[YRI][hapmap]
rs17169317	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17169328	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17169330	0.87[ASN][1000 genomes]
rs28415802	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28681561	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3148	0.84[YRI][hapmap]
rs34228515	1.00[CEU][hapmap]
rs34320281	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34353490	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35428901	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs36081491	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3735252	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6465655	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6958785	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6980318	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73404186	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7788997	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs951987	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1031371	chr7:97312452-98070538	Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	esv3500384	chr7:97527787-98015382	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
3	esv3500386	chr7:97527787-98015382	Bivalent Enhancer Flanking Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
4	nsv1017481	chr7:97597641-98041043	Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
5	nsv539031	chr7:97597641-98041043	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
6	nsv1019531	chr7:97653880-98034129	Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv539032	chr7:97653880-98034129	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	esv1816676	chr7:97676259-97868033	Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv831066	chr7:97726879-97890550	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	nsv1033029	chr7:97773232-98017992	Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
11	nsv539033	chr7:97773232-98017992	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:97762600-97793000	Weak transcription	Fetal Heart	heart
2	chr7:97763200-97792600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr7:97763400-97801000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr7:97763400-97821000	Weak transcription	NHLF	lung
5	chr7:97763600-97788400	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr7:97763600-97793000	Weak transcription	NH-A	brain
7	chr7:97763600-97814200	Weak transcription	Osteobl	bone
8	chr7:97763600-97815800	Weak transcription	HSMM	muscle
9	chr7:97764000-97806200	Weak transcription	Psoas Muscle	Psoas
10	chr7:97765800-97840800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr7:97766000-97795000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr7:97766200-97790000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr7:97766600-97798400	Weak transcription	HSMMtube	muscle
14	chr7:97768800-97807000	Weak transcription	Stomach Mucosa	stomach
15	chr7:97771800-97797800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr7:97772400-97821600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr7:97775600-97803600	Weak transcription	K562	blood
18	chr7:97777600-97789200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr7:97777800-97790600	Strong transcription	Primary T helper cells fromperipheralblood	blood
20	chr7:97778000-97790000	Strong transcription	Primary T cells from cord blood	blood
21	chr7:97778800-97792800	Weak transcription	Small Intestine	intestine
22	chr7:97779800-97789800	Strong transcription	Primary T helper cells PMA-I stimulated	--
23	chr7:97780000-97789400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr7:97780200-97792000	Strong transcription	Primary neutrophils fromperipheralblood	blood
25	chr7:97780400-97792000	Strong transcription	Fetal Intestine Large	intestine
26	chr7:97780600-97790000	Strong transcription	HepG2	liver
27	chr7:97780800-97788200	Strong transcription	Fetal Thymus	thymus
28	chr7:97780800-97788400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr7:97780800-97789200	Strong transcription	Primary B cells from cord blood	blood
30	chr7:97780800-97789400	Strong transcription	Primary T cells fromperipheralblood	blood
31	chr7:97780800-97789400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr7:97780800-97789800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr7:97780800-97790000	Strong transcription	Liver	Liver
34	chr7:97781000-97789200	Strong transcription	H1 Cell Line	embryonic stem cell
35	chr7:97781000-97789200	Strong transcription	Fetal Brain Female	brain
36	chr7:97781000-97790200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr7:97781400-97789200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr7:97781800-97808200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr7:97782200-97792000	Weak transcription	Primary B cells from peripheral blood	blood
40	chr7:97782400-97792800	Weak transcription	Right Ventricle	heart
41	chr7:97782400-97803600	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr7:97782400-97819000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr7:97782400-97822000	Weak transcription	Fetal Kidney	kidney
44	chr7:97782400-97839800	Weak transcription	Fetal Brain Male	brain
45	chr7:97782600-97792000	Weak transcription	GM12878-XiMat	blood
46	chr7:97782600-97807400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr7:97782800-97793200	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr7:97783000-97792800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr7:97783200-97789800	Strong transcription	HUES6 Cell Line	embryonic stem cell
50	chr7:97783200-97795000	Weak transcription	Esophagus	oesophagus

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