Variant report

Variant	rs58418722
Chromosome Location	chr7:102966722-102966723
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:102966692..102968291-chr7:102981576..102983215,2	K562	blood:
2	chr7:102965359..102966952-chr7:102976129..102978628,2	K562	blood:
3	chr7:102951009..102953975-chr7:102965332..102967685,4	K562	blood:
4	chr7:102965625..102968291-chr7:102981230..102983215,2	K562	blood:
5	chr7:102950023..102953005-chr7:102965569..102967984,2	MCF-7	breast:
6	chr7:102965951..102967694-chr7:102983439..102985233,2	K562	blood:

Variant related genes	Relation type
ENSG00000105821	Chromatin interaction
ENSG00000161057	Chromatin interaction
ENSG00000105819	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10234363	0.95[EUR][1000 genomes]
rs10242349	0.95[EUR][1000 genomes]
rs10249921	0.95[EUR][1000 genomes]
rs10279441	0.95[EUR][1000 genomes]
rs17136070	0.88[EUR][1000 genomes]
rs17156420	0.86[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs1968196	0.91[EUR][1000 genomes]
rs1968197	0.86[EUR][1000 genomes]
rs28397594	0.93[EUR][1000 genomes]
rs28675125	0.95[EUR][1000 genomes]
rs3864442	0.91[EUR][1000 genomes]
rs3959192	0.88[EUR][1000 genomes]
rs4286873	0.80[EUR][1000 genomes]
rs57770439	0.88[EUR][1000 genomes]
rs58202498	0.88[EUR][1000 genomes]
rs58443652	0.93[EUR][1000 genomes]
rs59245803	0.88[EUR][1000 genomes]
rs59829064	0.86[AFR][1000 genomes]
rs60020835	0.88[EUR][1000 genomes]
rs60080018	0.88[EUR][1000 genomes]
rs60366734	0.88[EUR][1000 genomes]
rs60383417	0.88[EUR][1000 genomes]
rs6942876	0.80[EUR][1000 genomes]
rs6960317	0.84[EUR][1000 genomes]
rs6975450	0.93[EUR][1000 genomes]
rs6978467	0.84[EUR][1000 genomes]
rs6978540	0.82[EUR][1000 genomes]
rs6978608	0.84[EUR][1000 genomes]
rs6979451	0.84[EUR][1000 genomes]
rs7789727	0.86[EUR][1000 genomes]
rs7801094	0.86[EUR][1000 genomes]
rs7810936	0.82[AFR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv868996	chr7:102332827-102991361	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv1030446	chr7:102932689-103221638	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer 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	23 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	chr7:102938600-102984200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:102939000-102969200	Strong transcription	Fetal Muscle Trunk	muscle
3	chr7:102939200-102967400	Strong transcription	HUES48 Cell Line	embryonic stem cell
4	chr7:102939200-102968400	Strong transcription	Primary T cells fromperipheralblood	blood
5	chr7:102939200-102968400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr7:102939200-102972400	Strong transcription	Fetal Thymus	thymus
7	chr7:102939400-102966800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
8	chr7:102939400-102967800	Strong transcription	HUES6 Cell Line	embryonic stem cell
9	chr7:102939400-102967800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr7:102939400-102968000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
11	chr7:102939400-102968000	Strong transcription	Rectal Mucosa Donor 29	rectum
12	chr7:102939400-102968200	Strong transcription	Placenta	Placenta
13	chr7:102939400-102968200	Strong transcription	HSMM	muscle
14	chr7:102939400-102969800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
15	chr7:102939600-102966800	Strong transcription	H1 Cell Line	embryonic stem cell
16	chr7:102939600-102968000	Strong transcription	HUES64 Cell Line	embryonic stem cell
17	chr7:102939600-102968000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr7:102939600-102968000	Strong transcription	Fetal Intestine Large	intestine
19	chr7:102939600-102968000	Strong transcription	Fetal Muscle Leg	muscle
20	chr7:102939600-102968400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr7:102939600-102968400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr7:102939600-102968600	Strong transcription	Duodenum Smooth Muscle	Duodenum
23	chr7:102939600-102969800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr7:102939600-102970000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr7:102939800-102968000	Strong transcription	Adipose Nuclei	Adipose
26	chr7:102939800-102968000	Strong transcription	Osteobl	bone
27	chr7:102939800-102968200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr7:102939800-102968200	Strong transcription	Primary B cells from peripheral blood	blood
29	chr7:102939800-102968200	Strong transcription	Duodenum Mucosa	Duodenum
30	chr7:102939800-102969800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr7:102939800-102980800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr7:102939800-102984000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr7:102939800-102984200	Weak transcription	Stomach Mucosa	stomach
34	chr7:102940000-102969000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr7:102940000-102983000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr7:102940200-102966800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr7:102940200-102968000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr7:102940200-102968000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr7:102940400-102968000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr7:102940400-102970200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr7:102940800-102969800	Strong transcription	Dnd41	blood
42	chr7:102943400-102970000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr7:102943800-102968200	Strong transcription	Primary T helper cells fromperipheralblood	blood
44	chr7:102944000-102968000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr7:102947800-102967400	Strong transcription	Primary T cells from cord blood	blood
46	chr7:102948400-102968000	Strong transcription	Colon Smooth Muscle	Colon
47	chr7:102948600-102968000	Strong transcription	Primary neutrophils fromperipheralblood	blood
48	chr7:102948600-102970400	Strong transcription	Monocytes-CD14+_RO01746	blood
49	chr7:102948800-102968000	Strong transcription	GM12878-XiMat	blood
50	chr7:102948800-102968200	Strong transcription	Liver	Liver

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