Variant report

Variant	rs6954598
Chromosome Location	chr7:105161894-105161895
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:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:104653151..104655503-chr7:105160083..105164345,7	K562	blood:
2	chr7:105143860..105147794-chr7:105158802..105162576,5	K562	blood:
3	chr5:10249794..10250737-chr7:105161803..105162758,2	Hela-S3	cervix:
4	chr7:105160261..105165362-chr7:105168599..105174293,22	MCF-7	breast:
5	chr7:105160711..105163604-chr7:105655467..105658687,3	K562	blood:
6	chr7:105160926..105162522-chr7:105329627..105332211,2	K562	blood:
7	chr7:105158727..105165017-chr7:105166972..105176993,56	K562	blood:
8	chr7:105159598..105163989-chr7:105219696..105223115,7	MCF-7	breast:
9	chr7:105083591..105086006-chr7:105160365..105162043,2	K562	blood:
10	chr7:105161082..105163079-chr7:105240360..105242686,2	K562	blood:
11	chr7:104652163..104655972-chr7:105160292..105163807,4	MCF-7	breast:
12	chr7:105160687..105164718-chr7:105170642..105174239,14	MCF-7	breast:
13	chr7:104653054..104655993-chr7:105161169..105164095,3	MCF-7	breast:
14	chr7:105161102..105162655-chr7:105181498..105183213,2	K562	blood:
15	chr17:33914164..33914765-chr7:105161584..105162384,2	Hela-S3	cervix:
16	chr7:104653151..104655346-chr7:105160083..105164134,5	K562	blood:
17	chr7:105148472..105150405-chr7:105160556..105162918,2	MCF-7	breast:
18	chr7:105027746..105030082-chr7:105160759..105163665,5	MCF-7	breast:
19	chr7:104772977..104775390-chr7:105160456..105162601,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000150753	Chromatin interaction
ENSG00000223886	Chromatin interaction
ENSG00000135250	Chromatin interaction
ENSG00000228393	Chromatin interaction
ENSG00000135249	Chromatin interaction
ENSG00000146776	Chromatin interaction
ENSG00000091127	Chromatin interaction
ENSG00000150756	Chromatin interaction
ENSG00000239569	Chromatin interaction
ENSG00000185055	Chromatin interaction
ENSG00000005483	Chromatin interaction
ENSG00000006125	Chromatin interaction
ENSG00000128536	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1706922	1.00[EUR][1000 genomes]
rs1721504	1.00[EUR][1000 genomes]
rs59611877	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6958303	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6958926	1.00[EUR][1000 genomes]
rs6972569	1.00[EUR][1000 genomes]
rs6977226	1.00[EUR][1000 genomes]
rs73720103	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7784501	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7805216	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs818622	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 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	nsv888929	chr7:105012975-105163091	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
9	nsv888930	chr7:105012975-105170476	Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS 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	30 gene(s)	inside rSNPs	diseases
10	nsv888931	chr7:105012975-105173974	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	esv1793037	chr7:105137305-105167132	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	27 gene(s)	inside rSNPs	diseases
19	nsv8197	chr7:105160920-105166965	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:105161200-105162000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr7:105161200-105162000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr7:105161200-105162000	Flanking Active TSS	K562	blood
4	chr7:105161200-105162000	Flanking Active TSS	NHEK	skin
5	chr7:105161200-105162200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
6	chr7:105161200-105162200	Flanking Active TSS	Dnd41	blood
7	chr7:105161200-105162800	Active TSS	HUES64 Cell Line	embryonic stem cell
8	chr7:105161200-105162800	Active TSS	Primary T helper cells PMA-I stimulated	--
9	chr7:105161200-105162800	Active TSS	GM12878-XiMat	blood
10	chr7:105161200-105162800	Active TSS	HSMM	muscle
11	chr7:105161200-105163000	Active TSS	H9 Cell Line	embryonic stem cell
12	chr7:105161200-105163000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr7:105161200-105163000	Active TSS	HUES48 Cell Line	embryonic stem cell
14	chr7:105161200-105163000	Active TSS	iPS-18 Cell Line	embryonic stem cell
15	chr7:105161200-105163000	Active TSS	iPS-20b Cell Line	embryonic stem cell
16	chr7:105161200-105163200	Active TSS	Breast Myoepithelial Primary Cells	Breast
17	chr7:105161200-105163400	Active TSS	HUES6 Cell Line	embryonic stem cell
18	chr7:105161200-105163400	Active TSS	iPS-15b Cell Line	embryonic stem cell
19	chr7:105161200-105163400	Active TSS	Brain Germinal Matrix	brain
20	chr7:105161200-105163400	Active TSS	A549	lung
21	chr7:105161400-105162000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr7:105161400-105162000	Flanking Active TSS	Duodenum Mucosa	Duodenum
23	chr7:105161400-105162000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
24	chr7:105161400-105162000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
25	chr7:105161400-105162000	Flanking Active TSS	HUVEC	blood vessel
26	chr7:105161400-105162200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
27	chr7:105161400-105162200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
28	chr7:105161400-105162200	Flanking Active TSS	Stomach Smooth Muscle	stomach
29	chr7:105161400-105162800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr7:105161400-105162800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr7:105161400-105162800	Active TSS	Hela-S3	cervix
32	chr7:105161400-105162800	Active TSS	HMEC	breast
33	chr7:105161400-105163000	Active TSS	ES-I3 Cell Line	embryonic stem cell
34	chr7:105161400-105163000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr7:105161400-105163000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr7:105161400-105163200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr7:105161400-105163200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr7:105161400-105163200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
39	chr7:105161400-105163200	Active TSS	Fetal Brain Male	brain
40	chr7:105161400-105163400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr7:105161400-105163400	Active TSS	Fetal Kidney	kidney
42	chr7:105161600-105162000	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr7:105161600-105162000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
44	chr7:105161600-105162000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
45	chr7:105161600-105162000	Flanking Active TSS	Liver	Liver
46	chr7:105161600-105162000	Flanking Active TSS	Brain Anterior Caudate	brain
47	chr7:105161600-105162000	Flanking Active TSS	Brain Cingulate Gyrus	brain
48	chr7:105161600-105162000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
49	chr7:105161600-105162000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
50	chr7:105161600-105162000	Flanking Active TSS	Brain Substantia Nigra	brain

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