Variant report

Variant	rs55718102
Chromosome Location	chr7:5635404-5635405
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:5634585..5636582-chr7:5716195..5717760,2	K562	blood:
2	chr7:5551336..5555391-chr7:5631153..5637818,11	K562	blood:
3	chr7:5595573..5597650-chr7:5633861..5636258,2	MCF-7	breast:
4	chr7:5568679..5572411-chr7:5632886..5636261,4	MCF-7	breast:
5	chr7:5534250..5536854-chr7:5634292..5635888,2	K562	blood:
6	chr7:5563317..5574038-chr7:5630450..5643029,58	K562	blood:
7	chr7:5635012..5635529-chr9:130213289..130213796,2	Hela-S3	cervix:
8	chr7:5533112..5541360-chr7:5629989..5636364,13	K562	blood:
9	chr7:5464523..5466327-chr7:5632424..5635816,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000148356	Chromatin interaction
ENSG00000272953	Chromatin interaction
ENSG00000197958	Chromatin interaction
ENSG00000263900	Chromatin interaction
ENSG00000182095	Chromatin interaction
ENSG00000207973	Chromatin interaction
ENSG00000075624	Chromatin interaction
ENSG00000272719	Chromatin interaction
ENSG00000155034	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs2966447	0.83[EUR][1000 genomes]
rs55804712	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56113524	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56187290	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs852478	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869165	chr7:4889618-5799719	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	352 gene(s)	inside rSNPs	diseases
2	nsv530979	chr7:5101631-5864814	Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	350 gene(s)	inside rSNPs	diseases
3	nsv530981	chr7:5157150-5920006	Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	348 gene(s)	inside rSNPs	diseases
4	esv1814049	chr7:5314993-5675131	Active TSS Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	333 gene(s)	inside rSNPs	diseases
5	esv1820266	chr7:5332088-5665173	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	332 gene(s)	inside rSNPs	diseases
6	nsv530983	chr7:5370746-6070852	Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	368 gene(s)	inside rSNPs	diseases
7	nsv887404	chr7:5402606-5667645	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	331 gene(s)	inside rSNPs	diseases
8	nsv916391	chr7:5417945-5889565	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	336 gene(s)	inside rSNPs	diseases
9	nsv887408	chr7:5432672-5667645	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription 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 miRNA target site	331 gene(s)	inside rSNPs	diseases
10	nsv830890	chr7:5464933-5705158	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
11	nsv533108	chr7:5488018-6316581	Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	390 gene(s)	inside rSNPs	diseases
12	nsv1025434	chr7:5537571-5705283	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	297 gene(s)	inside rSNPs	diseases
13	nsv482449	chr7:5557585-5743673	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	294 gene(s)	inside rSNPs	diseases
14	nsv1033556	chr7:5565080-6186815	Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	357 gene(s)	inside rSNPs	diseases
15	nsv538710	chr7:5565080-6186815	Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	357 gene(s)	inside rSNPs	diseases
16	nsv887414	chr7:5584934-5667645	Flanking Bivalent TSS/Enh Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
17	nsv887415	chr7:5584934-5675305	Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
18	nsv887416	chr7:5584934-5695259	Genic enhancers Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
19	nsv530467	chr7:5617816-5815082	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
20	nsv1017612	chr7:5629728-5819144	Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
21	nsv1021989	chr7:5629728-6186815	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	126 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:5631200-5636200	Active TSS	H9 Cell Line	embryonic stem cell
2	chr7:5631200-5636800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr7:5631600-5635600	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
4	chr7:5631600-5636400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr7:5631600-5636800	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr7:5631800-5636200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
7	chr7:5632000-5635800	Active TSS	Aorta	Aorta
8	chr7:5632000-5636200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr7:5632000-5636200	Active TSS	Fetal Kidney	kidney
10	chr7:5632200-5635800	Active TSS	HSMM	muscle
11	chr7:5632200-5636000	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr7:5632200-5636000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr7:5632200-5636000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr7:5632200-5636000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr7:5632200-5636000	Active TSS	HMEC	breast
16	chr7:5632200-5636000	Active TSS	NHDF-Ad	bronchial
17	chr7:5632400-5636400	Flanking Active TSS	Primary hematopoietic stem cells	blood
18	chr7:5633000-5636600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
19	chr7:5633600-5636200	Active TSS	Gastric	stomach
20	chr7:5633800-5635800	Bivalent/Poised TSS	Thymus	Thymus
21	chr7:5634200-5636200	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
22	chr7:5634400-5635600	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
23	chr7:5634400-5635600	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
24	chr7:5634400-5635600	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
25	chr7:5634400-5635800	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
26	chr7:5634400-5635800	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
27	chr7:5634400-5635800	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
28	chr7:5634400-5636000	Bivalent Enhancer	Primary B cells from cord blood	blood
29	chr7:5634400-5636200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr7:5634400-5636400	Transcr. at gene 5' and 3'	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr7:5634400-5636400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
32	chr7:5634400-5636400	Transcr. at gene 5' and 3'	Fetal Stomach	stomach
33	chr7:5634400-5636600	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr7:5634400-5636800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr7:5634400-5636800	Transcr. at gene 5' and 3'	NHEK	skin
36	chr7:5634400-5637000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr7:5634400-5639600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr7:5634600-5635600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
39	chr7:5634600-5635600	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
40	chr7:5634600-5635600	Flanking Active TSS	Fetal Muscle Leg	muscle
41	chr7:5634600-5635600	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
42	chr7:5634600-5635600	Flanking Active TSS	Hela-S3	cervix
43	chr7:5634600-5635600	Flanking Active TSS	HepG2	liver
44	chr7:5634600-5635600	Flanking Active TSS	HUVEC	blood vessel
45	chr7:5634600-5635800	Flanking Bivalent TSS/Enh	Placenta	Placenta
46	chr7:5634600-5636200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
47	chr7:5634600-5636200	Flanking Active TSS	Fetal Muscle Trunk	muscle
48	chr7:5634600-5636400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr7:5634600-5636400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
50	chr7:5634600-5636800	Flanking Active TSS	Brain Cingulate Gyrus	brain

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