Variant report

Variant	rs58660994
Chromosome Location	chr7:98940017-98940018
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:98937693..98940290-chr7:99001737..99003440,2	K562	blood:
2	chr7:98939839..98942137-chr7:98946322..98948026,2	K562	blood:
3	chr7:98934262..98936878-chr7:98938808..98941146,2	K562	blood:
4	chr7:98939617..98942522-chr7:98988353..98990006,2	K562	blood:

Variant related genes	Relation type
ENSG00000106244	Chromatin interaction
ENSG00000130429	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10232076	0.99[ASN][1000 genomes]
rs10255399	0.81[ASN][1000 genomes]
rs10258757	0.81[ASN][1000 genomes]
rs10267346	0.89[ASN][1000 genomes]
rs10272998	0.99[ASN][1000 genomes]
rs10274407	0.99[ASN][1000 genomes]
rs10953287	0.99[ASN][1000 genomes]
rs17161677	0.80[ASN][1000 genomes]
rs17161692	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2286162	0.98[ASN][1000 genomes]
rs2301889	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28468623	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28820905	0.85[ASN][1000 genomes]
rs3801288	0.98[ASN][1000 genomes]
rs59725656	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6948775	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6953476	0.99[ASN][1000 genomes]
rs6972337	0.99[ASN][1000 genomes]
rs6975099	0.99[ASN][1000 genomes]
rs73395547	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73395557	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73395580	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9641253	0.98[ASN][1000 genomes]
rs9768020	0.89[ASN][1000 genomes]
rs9918551	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][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	esv3433144	chr7:98777878-99060209	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv831068	chr7:98819572-99006481	Weak transcription Active TSS Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:98924400-98957200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:98924600-98971600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr7:98925200-98965200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:98926600-98941600	Weak transcription	Psoas Muscle	Psoas
5	chr7:98927200-98966800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr7:98927600-98944200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr7:98927800-98960600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr7:98928400-98967200	Strong transcription	Fetal Thymus	thymus
9	chr7:98928600-98965200	Strong transcription	Dnd41	blood
10	chr7:98929000-98965600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
11	chr7:98929400-98965200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr7:98929600-98962800	Strong transcription	Primary T cells fromperipheralblood	blood
13	chr7:98929600-98965400	Strong transcription	Primary neutrophils fromperipheralblood	blood
14	chr7:98929800-98965000	Strong transcription	Duodenum Mucosa	Duodenum
15	chr7:98930000-98950200	Strong transcription	Rectal Mucosa Donor 31	rectum
16	chr7:98930000-98962800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr7:98930000-98968200	Strong transcription	Fetal Intestine Small	intestine
18	chr7:98930200-98954600	Weak transcription	Fetal Heart	heart
19	chr7:98930200-98968400	Strong transcription	Fetal Stomach	stomach
20	chr7:98930600-98946000	Strong transcription	Osteobl	bone
21	chr7:98930600-98950400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr7:98930600-98965200	Strong transcription	Primary T helper cells fromperipheralblood	blood
23	chr7:98930600-98965200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr7:98930600-98965200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr7:98930800-98950000	Strong transcription	HUES48 Cell Line	embryonic stem cell
26	chr7:98930800-98955200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr7:98930800-98960200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr7:98930800-98965200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr7:98930800-98965200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr7:98930800-98965400	Strong transcription	Primary monocytes fromperipheralblood	blood
31	chr7:98930800-98966800	Strong transcription	Adipose Nuclei	Adipose
32	chr7:98930800-98967000	Strong transcription	Fetal Muscle Leg	muscle
33	chr7:98930800-98967600	Strong transcription	Monocytes-CD14+_RO01746	blood
34	chr7:98931000-98943200	Strong transcription	Muscle Satellite Cultured Cells	--
35	chr7:98931000-98950400	Strong transcription	HUES64 Cell Line	embryonic stem cell
36	chr7:98931000-98953400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr7:98931000-98959600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr7:98931000-98960200	Strong transcription	Placenta	Placenta
39	chr7:98931000-98965000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr7:98931200-98951200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr7:98931400-98947400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr7:98932600-98966400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr7:98933000-98950000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr7:98934200-98950400	Strong transcription	Duodenum Smooth Muscle	Duodenum
45	chr7:98934400-98965200	Strong transcription	Rectal Mucosa Donor 29	rectum
46	chr7:98934800-98940200	Strong transcription	HepG2	liver
47	chr7:98935000-98943400	Strong transcription	Fetal Lung	lung
48	chr7:98935200-98940200	Strong transcription	Primary B cells from peripheral blood	blood
49	chr7:98935600-98971600	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr7:98935800-98942800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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