Variant report

Variant	rs28681358
Chromosome Location	chr7:112427856-112427857
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:112421571..112428519-chr7:112428661..112431818,11	MCF-7	breast:
2	chr7:112389614..112392612-chr7:112427790..112430309,2	K562	blood:

Variant related genes	Relation type
ENSG00000146802	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10215501	0.90[EUR][1000 genomes]
rs10216230	0.89[EUR][1000 genomes]
rs10226382	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10234058	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10238492	0.91[ASN][1000 genomes]
rs10250630	0.85[ASN][1000 genomes]
rs10253054	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10256800	1.00[ASN][1000 genomes]
rs10257210	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10265582	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10273060	0.81[AMR][1000 genomes]
rs11538991	0.91[ASN][1000 genomes]
rs11760733	0.91[ASN][1000 genomes]
rs11762442	0.85[ASN][1000 genomes]
rs1614000	0.85[ASN][1000 genomes]
rs1615468	0.85[ASN][1000 genomes]
rs4490768	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56113805	0.81[AMR][1000 genomes]
rs6946335	0.85[ASN][1000 genomes]
rs6950318	0.85[ASN][1000 genomes]
rs7780098	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7806781	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9655816	0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531436	chr7:111856171-112585407	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	105 gene(s)	inside rSNPs	diseases
2	esv2752144	chr7:112398372-112499924	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	esv1794529	chr7:112400060-112588376	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:112393600-112429800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr7:112396200-112428600	Weak transcription	Rectal Smooth Muscle	rectum
3	chr7:112397000-112428000	Weak transcription	Fetal Intestine Small	intestine
4	chr7:112397600-112429600	Weak transcription	Pancreas	Pancrea
5	chr7:112398800-112428800	Weak transcription	Gastric	stomach
6	chr7:112400200-112429000	Weak transcription	HSMM	muscle
7	chr7:112400600-112428600	Weak transcription	Brain Substantia Nigra	brain
8	chr7:112403400-112428600	Weak transcription	Fetal Stomach	stomach
9	chr7:112404800-112428800	Weak transcription	Spleen	Spleen
10	chr7:112405400-112428400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr7:112405600-112428800	Weak transcription	Osteobl	bone
12	chr7:112405800-112428200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr7:112405800-112428800	Weak transcription	Brain Cingulate Gyrus	brain
14	chr7:112406000-112428800	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr7:112406000-112429000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr7:112406400-112428800	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr7:112406400-112429000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr7:112406600-112428400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr7:112407800-112428600	Weak transcription	Ovary	ovary
20	chr7:112410600-112428600	Weak transcription	Fetal Lung	lung
21	chr7:112410600-112428600	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr7:112411400-112428400	Weak transcription	Brain Anterior Caudate	brain
23	chr7:112411600-112428600	Weak transcription	Colon Smooth Muscle	Colon
24	chr7:112411800-112428800	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr7:112413000-112428600	Weak transcription	Fetal Kidney	kidney
26	chr7:112413200-112429000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr7:112413800-112429000	Weak transcription	Esophagus	oesophagus
28	chr7:112418400-112428400	Weak transcription	Stomach Smooth Muscle	stomach
29	chr7:112418400-112428600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr7:112418600-112429000	Weak transcription	Placenta	Placenta
31	chr7:112419400-112429200	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr7:112419600-112428600	Weak transcription	Fetal Brain Female	brain
33	chr7:112419800-112428600	Weak transcription	NHLF	lung
34	chr7:112421600-112428200	Weak transcription	Dnd41	blood
35	chr7:112421600-112428400	Weak transcription	Brain Hippocampus Middle	brain
36	chr7:112421600-112428400	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr7:112421600-112428800	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr7:112422000-112428400	Weak transcription	Stomach Mucosa	stomach
39	chr7:112422200-112428600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr7:112422800-112428200	Weak transcription	Fetal Heart	heart
41	chr7:112422800-112428600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr7:112422800-112429000	Weak transcription	Psoas Muscle	Psoas
43	chr7:112422800-112429200	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr7:112422800-112429600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr7:112423000-112428800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr7:112423000-112428800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr7:112423000-112428800	Weak transcription	Aorta	Aorta
48	chr7:112423000-112429000	Weak transcription	HSMMtube	muscle
49	chr7:112423000-112429800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr7:112423200-112428400	Weak transcription	HUES6 Cell Line	embryonic stem cell

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