Variant report

Variant	rs1728651
Chromosome Location	chr7:105174892-105174893
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:105174875..105178422-chr7:105279003..105282206,4	MCF-7	breast:
2	chr7:105094953..105097499-chr7:105172737..105175685,2	K562	blood:
3	chr7:105173908..105177855-chr7:105188710..105192273,6	K562	blood:
4	chr7:105174872..105176393-chr7:105185290..105187742,2	MCF-7	breast:
5	chr7:104652025..104655487-chr7:105171171..105176319,6	K562	blood:
6	chr7:105171534..105175507-chr7:105231963..105234533,3	K562	blood:
7	chr7:105161026..105164361-chr7:105174474..105178643,4	MCF-7	breast:
8	chr7:105158727..105165017-chr7:105166972..105176993,56	K562	blood:
9	chr7:105172788..105175282-chr7:105215933..105219450,4	K562	blood:
10	chr7:104649355..104651089-chr7:105173782..105176536,2	K562	blood:
11	chr7:105171895..105174076-chr7:105174094..105176454,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000135249	Chromatin interaction
ENSG00000228393	Chromatin interaction
ENSG00000005483	Chromatin interaction
ENSG00000091127	Chromatin interaction
ENSG00000239569	Chromatin interaction
ENSG00000185055	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

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]
rs1355614	0.83[CHD][hapmap];1.00[JPT][hapmap]
rs17149454	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];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]
rs1721498	0.83[CHD][hapmap];1.00[JPT][hapmap]
rs1721501	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]
rs1728655	1.00[GIH][hapmap];1.00[ASN][1000 genomes]
rs2272169	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60102008	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs711430	0.88[JPT][hapmap]
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]
rs818620	0.88[JPT][hapmap]
rs818621	0.83[CHD][hapmap];1.00[JPT][hapmap]
rs818626	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.95[YRI][hapmap];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:14 , 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	nsv888932	chr7:105012975-105179756	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
9	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
10	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
11	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
12	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
13	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
14	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	chr7:105173400-105175800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr7:105173400-105176000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr7:105173400-105177600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr7:105173400-105177600	Weak transcription	Left Ventricle	heart
5	chr7:105173400-105177800	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr7:105173400-105190200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr7:105173400-105208200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr7:105173400-105210200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr7:105173600-105175000	Enhancers	Primary T helper naive cells from peripheral blood	blood
10	chr7:105173600-105175400	Genic enhancers	Primary B cells from peripheral blood	blood
11	chr7:105173600-105177600	Weak transcription	Aorta	Aorta
12	chr7:105173800-105175000	Genic enhancers	Primary T cells from cord blood	blood
13	chr7:105173800-105175200	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr7:105173800-105176000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr7:105173800-105177600	Weak transcription	Lung	lung
16	chr7:105173800-105177600	Weak transcription	HSMMtube	muscle
17	chr7:105173800-105177800	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr7:105173800-105177800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr7:105173800-105178000	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr7:105173800-105178400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr7:105173800-105179000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr7:105173800-105183200	Weak transcription	Fetal Brain Male	brain
23	chr7:105174000-105175400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr7:105174000-105175400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr7:105174000-105175400	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr7:105174000-105175800	Strong transcription	HUES64 Cell Line	embryonic stem cell
27	chr7:105174000-105176000	Weak transcription	Placenta	Placenta
28	chr7:105174000-105176200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr7:105174000-105176200	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr7:105174000-105176800	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr7:105174000-105176800	Weak transcription	Colonic Mucosa	Colon
32	chr7:105174000-105176800	Weak transcription	Stomach Smooth Muscle	stomach
33	chr7:105174000-105177000	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr7:105174000-105177000	Weak transcription	Fetal Brain Female	brain
35	chr7:105174000-105177800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr7:105174000-105178800	Weak transcription	Brain Anterior Caudate	brain
37	chr7:105174000-105204200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr7:105174000-105210200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr7:105174000-105212200	Weak transcription	Fetal Heart	heart
40	chr7:105174200-105175000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr7:105174200-105175000	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr7:105174200-105175400	Genic enhancers	Osteobl	bone
43	chr7:105174200-105175800	Weak transcription	Fetal Thymus	thymus
44	chr7:105174200-105176000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr7:105174200-105176000	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr7:105174200-105176000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr7:105174200-105176000	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr7:105174200-105176200	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr7:105174200-105176200	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr7:105174200-105177000	Weak transcription	Fetal Lung	lung

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