Variant report

Variant	rs6978496
Chromosome Location	chr7:105028852-105028853
allele	C/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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:104971088..104973665-chr7:105027778..105030280,2	K562	blood:
2	chr7:104652744..104654842-chr7:105028526..105031470,2	MCF-7	breast:
3	chr7:104653211..104654776-chr7:105027099..105029228,2	K562	blood:
4	chr7:105027174..105029032-chr7:105171146..105173908,2	K562	blood:
5	chr7:104757007..104759673-chr7:105027481..105029991,2	MCF-7	breast:
6	chr7:104652893..104655901-chr7:105027705..105031319,8	MCF-7	breast:
7	chr7:105028215..105030486-chr7:105171271..105172847,2	K562	blood:
8	chr7:104937663..104939344-chr7:105026759..105029557,2	MCF-7	breast:
9	chr7:104650837..104656019-chr7:105026206..105030997,7	K562	blood:
10	chr7:105019571..105021474-chr7:105027326..105029018,2	MCF-7	breast:
11	chr7:105026529..105029377-chr7:105162488..105165118,2	MCF-7	breast:
12	chr7:105027206..105036314-chr7:105036751..105044757,13	K562	blood:
13	chr7:105027746..105030082-chr7:105160759..105163665,5	MCF-7	breast:
14	chr7:105007315..105010553-chr7:105026431..105029268,4	MCF-7	breast:
15	chr7:105027932..105031943-chr7:105036648..105042469,7	K562	blood:
16	chr7:104715799..104718256-chr7:105026783..105029016,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000135250	Chromatin interaction
ENSG00000228393	Chromatin interaction
ENSG00000201179	Chromatin interaction
ENSG00000239569	Chromatin interaction
ENSG00000135249	Chromatin interaction
ENSG00000005483	Chromatin interaction
ENSG00000091127	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10224539	0.83[EUR][1000 genomes]
rs10953475	0.82[EUR][1000 genomes]
rs12530690	0.83[EUR][1000 genomes]
rs12533264	0.82[EUR][1000 genomes]
rs12533348	0.85[EUR][1000 genomes]
rs12534381	0.80[EUR][1000 genomes]
rs12535338	0.83[EUR][1000 genomes]
rs12536794	0.83[EUR][1000 genomes]
rs17270450	0.83[EUR][1000 genomes]
rs17342493	0.83[EUR][1000 genomes]
rs17708070	0.81[EUR][1000 genomes]
rs2040915	0.82[EUR][1000 genomes]
rs2385557	0.83[EUR][1000 genomes]
rs3087867	0.85[EUR][1000 genomes]
rs56251298	0.81[EUR][1000 genomes]
rs57599523	0.83[EUR][1000 genomes]
rs6466061	0.83[EUR][1000 genomes]
rs66482905	0.82[EUR][1000 genomes]
rs66638610	0.82[EUR][1000 genomes]
rs67780803	0.82[EUR][1000 genomes]
rs67909511	0.83[EUR][1000 genomes]
rs6952458	0.85[EUR][1000 genomes]
rs7805639	0.83[EUR][1000 genomes]
rs7809329	0.83[EUR][1000 genomes]
rs7809464	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34588	chr7:104737612-105153242	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	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
3	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
4	nsv8196	chr7:104763559-105155978	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	esv34580	chr7:104763580-105153242	Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	esv2758127	chr7:104766707-105110581	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	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
8	nsv932138	chr7:104826194-105152816	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer 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 target site	15 gene(s)	inside rSNPs	diseases
9	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
10	nsv1029832	chr7:104905057-105112489	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
11	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
12	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
13	nsv1034689	chr7:104950564-105085879	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
14	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
15	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
16	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
17	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
18	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
19	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
20	nsv888934	chr7:105016900-105056010	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
21	esv3436858	chr7:105017550-105044209	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
22	nsv1018975	chr7:105018374-105153618	Enhancers Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
23	nsv539050	chr7:105018374-105153618	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
24	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
25	esv3417343	chr7:105027966-105030814	Weak transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 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	chr7:105027200-105030000	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr7:105027600-105029800	Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr7:105027600-105029800	Active TSS	GM12878-XiMat	blood
4	chr7:105027600-105030000	Active TSS	Right Ventricle	heart
5	chr7:105027600-105030000	Active TSS	NHDF-Ad	bronchial
6	chr7:105027600-105030200	Active TSS	NHLF	lung
7	chr7:105027800-105029400	Flanking Active TSS	Primary hematopoietic stem cells	blood
8	chr7:105027800-105029800	Active TSS	Brain Anterior Caudate	brain
9	chr7:105027800-105029800	Active TSS	Fetal Muscle Trunk	muscle
10	chr7:105027800-105029800	Active TSS	Fetal Muscle Leg	muscle
11	chr7:105027800-105029800	Active TSS	Fetal Stomach	stomach
12	chr7:105027800-105029800	Active TSS	HMEC	breast
13	chr7:105027800-105029800	Active TSS	NH-A	brain
14	chr7:105027800-105030000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
15	chr7:105027800-105030000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr7:105027800-105030000	Active TSS	Brain Substantia Nigra	brain
17	chr7:105027800-105030000	Active TSS	Thymus	Thymus
18	chr7:105027800-105030200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr7:105027800-105030200	Active TSS	HUES48 Cell Line	embryonic stem cell
20	chr7:105027800-105030200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr7:105027800-105030200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr7:105027800-105030200	Active TSS	Brain Inferior Temporal Lobe	brain
23	chr7:105027800-105030200	Active TSS	Fetal Brain Female	brain
24	chr7:105027800-105030200	Active TSS	HSMMtube	muscle
25	chr7:105028000-105029200	Active TSS	Fetal Heart	heart
26	chr7:105028000-105029200	Active TSS	Right Atrium	heart
27	chr7:105028000-105029600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr7:105028000-105029800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr7:105028000-105029800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr7:105028000-105029800	Active TSS	Brain Angular Gyrus	brain
31	chr7:105028000-105029800	Active TSS	Brain Cingulate Gyrus	brain
32	chr7:105028000-105029800	Active TSS	Fetal Intestine Large	intestine
33	chr7:105028000-105029800	Active TSS	Placenta	Placenta
34	chr7:105028000-105030000	Active TSS	H1 Cell Line	embryonic stem cell
35	chr7:105028000-105030000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr7:105028000-105030000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr7:105028000-105030000	Active TSS	H9 Cell Line	embryonic stem cell
38	chr7:105028000-105030000	Active TSS	HUES64 Cell Line	embryonic stem cell
39	chr7:105028000-105030000	Active TSS	iPS-15b Cell Line	embryonic stem cell
40	chr7:105028000-105030000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
41	chr7:105028000-105030000	Active TSS	Aorta	Aorta
42	chr7:105028000-105030000	Active TSS	Colonic Mucosa	Colon
43	chr7:105028000-105030000	Active TSS	Colon Smooth Muscle	Colon
44	chr7:105028000-105030000	Active TSS	Left Ventricle	heart
45	chr7:105028000-105030000	Active TSS	Lung	lung
46	chr7:105028000-105030000	Active TSS	Ovary	ovary
47	chr7:105028000-105030000	Active TSS	Placenta Amnion	Placenta Amnion
48	chr7:105028000-105030000	Active TSS	Psoas Muscle	Psoas
49	chr7:105028000-105030000	Active TSS	HSMM	muscle
50	chr7:105028000-105030200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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