Variant report

Variant	rs73405692
Chromosome Location	chr7:103631332-103631333
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	MAX	chr7:103629554-103631348	HepG2	liver:	n/a	n/a
2	GATA2	chr7:103630519-103631787	SH-SY5Y	brain:	n/a	chr7:103630947-103630957
3	POLR2A	chr7:103628847-103631343	H1-neurons	neurons:	n/a	n/a
4	POLR2A	chr7:103629532-103631400	HepG2	liver:	n/a	n/a
5	POLR2A	chr7:103629008-103631428	HepG2	liver:	n/a	n/a
6	REST	chr7:103628791-103631624	H1-neurons	neurons:	n/a	chr7:103630508-103630521 chr7:103630245-103630258 chr7:103630112-103630125 chr7:103630332-103630342 chr7:103629549-103629569 chr7:103630283-103630296 chr7:103630349-103630356
7	EP300	chr7:103630582-103631337	SK-N-SH_RA	brain:	n/a	chr7:103630923-103630931
8	POLR2A	chr7:103629497-103631491	H1-neurons	neurons:	n/a	n/a
9	POLR2A	chr7:103629770-103631348	PFSK-1	brain:	n/a	n/a
10	MXI1	chr7:103628701-103632086	SK-N-SH	brain:	n/a	n/a
11	MAX	chr7:103629248-103631342	HepG2	liver:	n/a	chr7:103629468-103629477

No.	Distal block	Cell Line	Cell type
1	chr7:103507537..103509850-chr7:103630768..103632439,2	K562	blood:
2	chr7:103630552..103631385-chr7:103736876..103737824,2	K562	blood:
3	chr7:103507537..103509720-chr7:103630698..103632268,2	K562	blood:
4	chr7:103630477..103632147-chr7:103644604..103646445,2	K562	blood:

Variant related genes	Relation type
RELN	TF binding region

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10216187	0.83[EUR][1000 genomes]
rs10216198	0.83[EUR][1000 genomes]
rs10273035	0.83[EUR][1000 genomes]
rs10487182	0.83[EUR][1000 genomes]
rs11971265	0.83[EUR][1000 genomes]
rs11972170	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17158144	0.83[EUR][1000 genomes]
rs17158288	0.83[EUR][1000 genomes]
rs55825925	0.83[EUR][1000 genomes]
rs56334899	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60375583	0.83[EUR][1000 genomes]
rs73405684	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73405688	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73405690	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73409925	0.83[EUR][1000 genomes]
rs73409927	0.83[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3424622	chr7:103628741-103631589	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:103629000-103631400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
2	chr7:103629000-103631400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
3	chr7:103629200-103631400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
4	chr7:103629400-103632200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
5	chr7:103629600-103631400	Active TSS	Aorta	Aorta
6	chr7:103629600-103631400	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
7	chr7:103629600-103631400	Enhancers	Spleen	Spleen
8	chr7:103629800-103631400	Active TSS	Right Atrium	heart
9	chr7:103630000-103631400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr7:103630400-103631400	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
11	chr7:103630800-103631400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
12	chr7:103630800-103631400	Flanking Active TSS	Liver	Liver
13	chr7:103630800-103631400	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
14	chr7:103630800-103631400	Flanking Bivalent TSS/Enh	Fetal Brain Male	brain
15	chr7:103630800-103631400	Bivalent Enhancer	Fetal Lung	lung
16	chr7:103630800-103631600	Flanking Active TSS	K562	blood
17	chr7:103631000-103631400	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr7:103631000-103631400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr7:103631000-103631400	Bivalent/Poised TSS	Brain Angular Gyrus	brain
20	chr7:103631000-103631400	Flanking Bivalent TSS/Enh	Brain Anterior Caudate	brain
21	chr7:103631000-103631400	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
22	chr7:103631000-103631400	Flanking Active TSS	Fetal Brain Female	brain
23	chr7:103631000-103631400	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
24	chr7:103631000-103631400	Bivalent Enhancer	Fetal Thymus	thymus
25	chr7:103631000-103631400	Bivalent/Poised TSS	HepG2	liver
26	chr7:103631000-103631600	Bivalent Enhancer	Fetal Heart	heart
27	chr7:103631000-103631800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr7:103631200-103631400	Flanking Bivalent TSS/Enh	H9 Cell Line	embryonic stem cell
29	chr7:103631200-103631400	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr7:103631200-103631400	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
31	chr7:103631200-103631400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
32	chr7:103631200-103631400	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr7:103631200-103631400	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
34	chr7:103631200-103631400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr7:103631200-103631400	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
36	chr7:103631200-103631400	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr7:103631200-103631400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr7:103631200-103631400	Bivalent Enhancer	Adipose Nuclei	Adipose
39	chr7:103631200-103631400	Bivalent Enhancer	Brain Cingulate Gyrus	brain
40	chr7:103631200-103631400	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
41	chr7:103631200-103631400	Bivalent/Poised TSS	Brain Substantia Nigra	brain
42	chr7:103631200-103631400	Bivalent Enhancer	Fetal Muscle Leg	muscle
43	chr7:103631200-103631400	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
44	chr7:103631200-103631400	Bivalent/Poised TSS	NH-A	brain
45	chr7:103631200-103631400	Bivalent Enhancer	Osteobl	bone
46	chr7:103631200-103631800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
47	chr7:103631200-103631800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
48	chr7:103631200-103631800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
49	chr7:103631200-103631800	Bivalent Enhancer	NHLF	lung
50	chr7:103631200-103632000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links