Variant report

Variant	rs1721501
Chromosome Location	chr7:105179906-105179907
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:105162472..105165455-chr7:105178927..105180868,2	MCF-7	breast:
2	chr7:105171433..105173431-chr7:105176535..105180358,4	MCF-7	breast:
3	chr7:105171303..105174411-chr7:105176077..105181251,7	MCF-7	breast:
4	chr7:105178950..105184769-chr7:105189536..105192769,5	K562	blood:

Variant related genes	Relation type
ENSG00000135249	Chromatin interaction
ENSG00000091127	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12112589	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17149454	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1721490	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1728650	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1728651	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1728655	1.00[ASN][1000 genomes]
rs2272169	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60102008	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73406929	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73406931	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7796218	1.00[ASN][1000 genomes]
rs818626	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs818627	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757233	chr7:104758250-105208492	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	esv2759549	chr7:104758250-105208492	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv1028228	chr7:104807207-105182998	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv1015688	chr7:104849770-105182998	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv1023767	chr7:104931143-105190662	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
6	nsv539049	chr7:104931143-105190662	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
7	nsv1022065	chr7:104997315-105190662	Weak transcription 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 ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
8	nsv888933	chr7:105012975-105193051	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
9	nsv1023564	chr7:105018484-105182998	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
10	nsv464668	chr7:105088693-105208492	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
11	nsv608069	chr7:105088693-105208492	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
12	nsv888935	chr7:105110990-105193051	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
13	nsv888936	chr7:105119308-105193051	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	30 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	chr7:105173400-105190200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr7:105173400-105208200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:105173400-105210200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr7:105173800-105183200	Weak transcription	Fetal Brain Male	brain
5	chr7:105174000-105204200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr7:105174000-105210200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr7:105174000-105212200	Weak transcription	Fetal Heart	heart
8	chr7:105174200-105210200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:105174200-105213800	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr7:105174400-105180200	Strong transcription	HSMM	muscle
11	chr7:105174600-105180600	Weak transcription	Brain Cingulate Gyrus	brain
12	chr7:105174600-105181600	Weak transcription	Hela-S3	cervix
13	chr7:105174600-105182800	Weak transcription	Small Intestine	intestine
14	chr7:105174600-105193400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr7:105174600-105210400	Weak transcription	Psoas Muscle	Psoas
16	chr7:105174600-105213200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr7:105174800-105185200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr7:105174800-105193800	Strong transcription	K562	blood
19	chr7:105174800-105209200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr7:105175000-105193000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr7:105175000-105210400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr7:105175200-105187400	Weak transcription	Stomach Mucosa	stomach
23	chr7:105175200-105194000	Strong transcription	HUES48 Cell Line	embryonic stem cell
24	chr7:105175400-105184800	Strong transcription	Osteobl	bone
25	chr7:105175400-105193000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr7:105175400-105193800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
27	chr7:105175400-105201200	Strong transcription	Primary B cells from peripheral blood	blood
28	chr7:105175400-105211000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr7:105175600-105196800	Strong transcription	Fetal Stomach	stomach
30	chr7:105175600-105209600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr7:105175800-105180800	Strong transcription	Primary B cells from cord blood	blood
32	chr7:105175800-105182200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr7:105175800-105184600	Strong transcription	Fetal Muscle Trunk	muscle
34	chr7:105175800-105197800	Strong transcription	Fetal Thymus	thymus
35	chr7:105176000-105183200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr7:105176000-105188400	Strong transcription	Brain Inferior Temporal Lobe	brain
37	chr7:105176000-105192400	Strong transcription	Cortex derived primary cultured neurospheres	brain
38	chr7:105176000-105193000	Strong transcription	Fetal Muscle Leg	muscle
39	chr7:105176000-105196800	Strong transcription	Fetal Intestine Small	intestine
40	chr7:105176000-105197400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr7:105176000-105208600	Strong transcription	Placenta	Placenta
42	chr7:105176000-105210000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
43	chr7:105176000-105210200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr7:105176000-105210400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr7:105176000-105210400	Strong transcription	Primary T helper cells fromperipheralblood	blood
46	chr7:105176200-105181400	Strong transcription	Dnd41	blood
47	chr7:105176200-105181600	Strong transcription	Sigmoid Colon	Sigmoid Colon
48	chr7:105176200-105199800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr7:105176200-105210400	Strong transcription	Primary monocytes fromperipheralblood	blood
50	chr7:105176200-105210400	Strong transcription	Monocytes-CD14+_RO01746	blood

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