Variant report

Variant	rs73407188
Chromosome Location	chr7:98467748-98467749
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EBF1	chr7:98467734-98468357	GM12878	blood:	n/a	chr7:98468026-98468037 chr7:98468027-98468037 chr7:98468066-98468077 chr7:98468067-98468076 chr7:98468065-98468078 chr7:98468066-98468076
2	POLR2A	chr7:98466759-98468350	H1-neurons	neurons:	n/a	n/a
3	ZBTB7A	chr7:98467586-98468172	ECC-1	luminal epithelium:	n/a	chr7:98467790-98467799 chr7:98467726-98467733
4	SIN3A	chr7:98466956-98467787	H1-hESC	embryonic stem cell:	n/a	n/a
5	PAX5	chr7:98467486-98467760	GM12892	blood:	n/a	n/a
6	REST	chr7:98466396-98468568	H1-neurons	neurons:	n/a	chr7:98467655-98467668 chr7:98467177-98467190
7	MXI1	chr7:98467488-98468356	IMR90	lung:	n/a	n/a
8	POLR2A	chr7:98467724-98467754	Gliobla	brain:	n/a	n/a
9	BACH1	chr7:98467371-98468194	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr7:98466693-98468381	H1-neurons	neurons:	n/a	n/a
11	TAF1	chr7:98467396-98467911	H1-neurons	neurons:	n/a	n/a
12	MAZ	chr7:98466766-98468307	IMR90	lung:	n/a	chr7:98467684-98467693 chr7:98467911-98467921
13	ZNF263	chr7:98466918-98468197	HEK293-T-REx	kidney:	n/a	chr7:98467715-98467724 chr7:98467877-98467886 chr7:98467709-98467718 chr7:98467712-98467721
14	TAF1	chr7:98466967-98467925	H1-neurons	neurons:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:98466520..98468569-chr7:98474869..98476588,2	MCF-7	breast:
2	chr7:98464788..98468535-chr7:98474247..98476816,4	MCF-7	breast:

Variant related genes	Relation type
TMEM130	TF binding region
ENSG00000196367	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10215494	1.00[EUR][1000 genomes]
rs10230563	1.00[EUR][1000 genomes]
rs10242106	1.00[EUR][1000 genomes]
rs10269427	0.83[AFR][1000 genomes]
rs11768515	1.00[EUR][1000 genomes]
rs11769458	0.87[EUR][1000 genomes]
rs122152	1.00[EUR][1000 genomes]
rs160385	1.00[EUR][1000 genomes]
rs160386	1.00[EUR][1000 genomes]
rs160387	1.00[EUR][1000 genomes]
rs160388	1.00[EUR][1000 genomes]
rs160390	0.87[EUR][1000 genomes]
rs160391	1.00[EUR][1000 genomes]
rs1709724	0.87[EUR][1000 genomes]
rs1709725	1.00[EUR][1000 genomes]
rs1709727	1.00[EUR][1000 genomes]
rs17161491	1.00[EUR][1000 genomes]
rs219794	1.00[EUR][1000 genomes]
rs219796	0.87[EUR][1000 genomes]
rs219801	1.00[EUR][1000 genomes]
rs219802	1.00[EUR][1000 genomes]
rs219803	1.00[EUR][1000 genomes]
rs219804	1.00[EUR][1000 genomes]
rs219809	1.00[EUR][1000 genomes]
rs219810	1.00[EUR][1000 genomes]
rs219811	1.00[EUR][1000 genomes]
rs219812	1.00[EUR][1000 genomes]
rs219818	1.00[EUR][1000 genomes]
rs219830	1.00[EUR][1000 genomes]
rs219835	1.00[EUR][1000 genomes]
rs219836	1.00[EUR][1000 genomes]
rs219837	1.00[EUR][1000 genomes]
rs219840	1.00[EUR][1000 genomes]
rs310736	1.00[EUR][1000 genomes]
rs310738	0.87[EUR][1000 genomes]
rs310739	1.00[EUR][1000 genomes]
rs310741	1.00[EUR][1000 genomes]
rs310742	1.00[EUR][1000 genomes]
rs310743	0.89[EUR][1000 genomes]
rs310744	1.00[EUR][1000 genomes]
rs4413705	1.00[EUR][1000 genomes]
rs60914761	0.87[EUR][1000 genomes]
rs60932686	1.00[EUR][1000 genomes]
rs61239201	1.00[EUR][1000 genomes]
rs6945370	1.00[EUR][1000 genomes]
rs6956697	1.00[EUR][1000 genomes]
rs6959321	1.00[EUR][1000 genomes]
rs6960312	1.00[EUR][1000 genomes]
rs6967096	1.00[EUR][1000 genomes]
rs73393198	0.87[EUR][1000 genomes]
rs73393201	0.87[EUR][1000 genomes]
rs73395129	1.00[EUR][1000 genomes]
rs73409107	1.00[EUR][1000 genomes]
rs73409108	0.87[EUR][1000 genomes]
rs7807059	0.87[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	nsv1024529	chr7:98194830-98793518	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv539036	chr7:98194830-98793518	Bivalent/Poised TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:98466200-98468800	Active TSS	Brain Angular Gyrus	brain
2	chr7:98466400-98468000	Active TSS	Brain Inferior Temporal Lobe	brain
3	chr7:98466400-98468200	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
4	chr7:98466400-98468400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
5	chr7:98466600-98468200	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
6	chr7:98466600-98468200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
7	chr7:98466600-98468400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
8	chr7:98466600-98468400	Bivalent/Poised TSS	Brain Germinal Matrix	brain
9	chr7:98466600-98468600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
10	chr7:98466800-98467800	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr7:98466800-98467800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
12	chr7:98466800-98468200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr7:98466800-98468200	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
14	chr7:98466800-98468200	Bivalent/Poised TSS	Fetal Intestine Small	intestine
15	chr7:98466800-98468400	Bivalent Enhancer	Placenta	Placenta
16	chr7:98466800-98469000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
17	chr7:98466800-98469200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr7:98467000-98467800	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr7:98467000-98467800	Flanking Bivalent TSS/Enh	Right Ventricle	heart
20	chr7:98467000-98468000	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
21	chr7:98467000-98468000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
22	chr7:98467000-98468200	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr7:98467000-98468200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
24	chr7:98467000-98468200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr7:98467000-98468200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr7:98467000-98468200	Active TSS	Aorta	Aorta
27	chr7:98467000-98468200	Enhancers	Liver	Liver
28	chr7:98467000-98468200	Active TSS	Pancreatic Islets	Pancreatic Islet
29	chr7:98467000-98468200	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
30	chr7:98467000-98468200	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
31	chr7:98467000-98468200	Bivalent/Poised TSS	Osteobl	bone
32	chr7:98467000-98468400	Active TSS	Fetal Brain Female	brain
33	chr7:98467000-98468800	Enhancers	Fetal Brain Male	brain
34	chr7:98467000-98469000	Active TSS	H9 Cell Line	embryonic stem cell
35	chr7:98467200-98467800	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
36	chr7:98467200-98467800	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
37	chr7:98467200-98467800	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
38	chr7:98467200-98467800	Flanking Active TSS	Stomach Smooth Muscle	stomach
39	chr7:98467200-98467800	Bivalent/Poised TSS	HepG2	liver
40	chr7:98467200-98467800	Bivalent/Poised TSS	HUVEC	blood vessel
41	chr7:98467200-98468000	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr7:98467200-98468200	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr7:98467200-98468200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr7:98467200-98468200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr7:98467200-98468200	Flanking Bivalent TSS/Enh	Muscle Satellite Cultured Cells	--
46	chr7:98467200-98468200	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
47	chr7:98467200-98468200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr7:98467200-98468200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr7:98467200-98468200	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
50	chr7:98467200-98468200	Transcr. at gene 5' and 3'	Right Atrium	heart

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