Variant report

Variant	rs813001
Chromosome Location	chr7:101931351-101931352
allele	A/G
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:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:101930001..101933436-chr7:101942768..101945617,4	MCF-7	breast:
2	chr7:101929851..101931493-chr7:102106221..102107741,2	MCF-7	breast:
3	chr7:101931067..101932687-chr7:101942906..101945348,2	MCF-7	breast:
4	chr7:101928798..101932445-chr7:101950032..101952249,4	MCF-7	breast:
5	chr7:101929055..101931888-chr7:101946195..101949468,3	MCF-7	breast:
6	chr7:101924860..101932400-chr7:102029531..102038487,21	MCF-7	breast:
7	chr7:101929445..101932504-chr7:101961443..101964470,3	MCF-7	breast:
8	chr7:101929193..101933114-chr7:102002714..102005580,3	K562	blood:
9	chr7:101457570..101460867-chr7:101928374..101931760,6	MCF-7	breast:
10	chr7:101928489..101931443-chr7:102024106..102026412,2	K562	blood:
11	chr7:101914536..101919891-chr7:101927361..101932016,8	MCF-7	breast:
12	chr7:101924242..101933059-chr7:102034727..102040076,14	MCF-7	breast:
13	chr7:101912928..101918938-chr7:101926951..101931541,5	K562	blood:
14	chr7:101929371..101932604-chr7:101956316..101959591,3	MCF-7	breast:
15	chr7:101930945..101933458-chr7:101949436..101952380,2	K562	blood:
16	chr7:101929405..101932228-chr7:102004089..102006204,3	MCF-7	breast:
17	chr7:101928063..101931419-chr7:102036448..102039604,3	K562	blood:
18	chr5:11784634..11787064-chr7:101928617..101931405,2	MCF-7	breast:
19	chr7:101168305..101170280-chr7:101929643..101931645,2	K562	blood:
20	chr7:101927779..101934386-chr7:102001430..102005829,12	MCF-7	breast:
21	chr7:101913664..101916452-chr7:101928530..101931361,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000160999	Chromatin interaction
ENSG00000128563	Chromatin interaction
ENSG00000239969	Chromatin interaction
ENSG00000257923	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs803073	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs803075	0.84[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv464662	chr7:101912320-101949128	Strong transcription Weak transcription Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA	24 gene(s)	inside rSNPs	diseases
2	nsv464663	chr7:101912320-101949128	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	24 gene(s)	inside rSNPs	diseases
3	nsv607996	chr7:101912320-101949128	Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA	24 gene(s)	inside rSNPs	diseases
4	nsv607997	chr7:101912320-101949128	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA	24 gene(s)	inside rSNPs	diseases
5	esv2758126	chr7:101912320-102005026	Genic enhancers Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
6	esv2759548	chr7:101912320-102005026	Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
7	esv1814780	chr7:101912320-102375950	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
8	esv1819566	chr7:101912320-102375950	Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Enhancers 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 miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
9	esv1822347	chr7:101912320-102375950	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
10	esv1825708	chr7:101912320-102375950	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
11	esv1842898	chr7:101912320-102375950	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
12	esv1847418	chr7:101912320-102375950	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
13	nsv427798	chr7:101912320-102375950	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
14	nsv428182	chr7:101912320-102375950	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
15	nsv1016563	chr7:101912320-102695860	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
16	nsv1028438	chr7:101912320-102704135	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers 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 miRNA target site	76 gene(s)	inside rSNPs	diseases
17	esv1822373	chr7:101913187-101969458	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
18	nsv888828	chr7:101921289-101939759	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA	23 gene(s)	inside rSNPs	diseases
19	nsv888829	chr7:101926788-101946385	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	22 gene(s)	inside rSNPs	diseases
20	nsv888830	chr7:101926788-101957518	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:101928000-101932000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr7:101928600-101931400	Active TSS	Duodenum Smooth Muscle	Duodenum
3	chr7:101929200-101931400	Active TSS	H9 Cell Line	embryonic stem cell
4	chr7:101929200-101931400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr7:101929200-101931600	Active TSS	iPS-15b Cell Line	embryonic stem cell
6	chr7:101929400-101931600	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr7:101929400-101931800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr7:101929400-101932000	Active TSS	Fetal Kidney	kidney
9	chr7:101929400-101932200	Active TSS	HSMMtube	muscle
10	chr7:101929600-101931400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
11	chr7:101929600-101931400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr7:101929600-101931400	Active TSS	Aorta	Aorta
13	chr7:101929600-101931400	Active TSS	Lung	lung
14	chr7:101929600-101931400	Active TSS	A549	lung
15	chr7:101929800-101931400	Active TSS	Fetal Brain Male	brain
16	chr7:101929800-101931800	Active TSS	GM12878-XiMat	blood
17	chr7:101930200-101931600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr7:101930200-101931600	Flanking Active TSS	Stomach Smooth Muscle	stomach
19	chr7:101930200-101931800	Flanking Active TSS	Primary hematopoietic stem cells	blood
20	chr7:101930400-101931400	Flanking Active TSS	Colonic Mucosa	Colon
21	chr7:101930400-101931400	Flanking Bivalent TSS/Enh	Thymus	Thymus
22	chr7:101930400-101931600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr7:101930400-101931600	Flanking Active TSS	Adipose Nuclei	Adipose
24	chr7:101930400-101931600	Flanking Bivalent TSS/Enh	Dnd41	blood
25	chr7:101930400-101931800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
26	chr7:101930400-101932000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
27	chr7:101930400-101932600	Flanking Active TSS	Primary B cells from cord blood	blood
28	chr7:101930400-101933000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
29	chr7:101930600-101931400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
30	chr7:101930600-101931400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
31	chr7:101930600-101931400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr7:101930600-101931400	Flanking Active TSS	Liver	Liver
33	chr7:101930600-101931400	Flanking Active TSS	Duodenum Mucosa	Duodenum
34	chr7:101930600-101931400	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
35	chr7:101930600-101931400	Flanking Active TSS	HMEC	breast
36	chr7:101930600-101931600	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
37	chr7:101930600-101931600	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr7:101930600-101931600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr7:101930600-101931600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
40	chr7:101930600-101931600	Flanking Active TSS	Pancreas	Pancrea
41	chr7:101930600-101931600	Flanking Active TSS	Right Ventricle	heart
42	chr7:101930600-101931800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr7:101930600-101931800	Flanking Active TSS	Spleen	Spleen
44	chr7:101930600-101932000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
45	chr7:101930600-101932000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr7:101930800-101931400	Flanking Bivalent TSS/Enh	Stomach Mucosa	stomach
47	chr7:101930800-101931600	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
48	chr7:101930800-101931600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
49	chr7:101930800-101931600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
50	chr7:101930800-101931600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--

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