Variant report

Variant	rs73068180
Chromosome Location	chr7:13962015-13962016
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	chr7:13961833..13964592-chr7:14031302..14033936,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11980448	1.00[EUR][1000 genomes]
rs11980482	1.00[EUR][1000 genomes]
rs11983157	1.00[EUR][1000 genomes]
rs17167631	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2189885	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41370744	0.82[AFR][1000 genomes]
rs55689802	1.00[EUR][1000 genomes]
rs6972049	0.93[EUR][1000 genomes]
rs73068128	1.00[EUR][1000 genomes]
rs73068148	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73068169	0.89[EUR][1000 genomes]
rs73068171	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7776462	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019873	chr7:13707148-14133367	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1020310	chr7:13839681-14015794	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv538738	chr7:13839681-14015794	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv887698	chr7:13841798-14056075	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1020543	chr7:13851470-14021121	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv606277	chr7:13907827-13967377	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv949467	chr7:13938464-14279074	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv887700	chr7:13948517-14042702	Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
9	nsv887701	chr7:13955324-13988170	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:13930800-13971000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr7:13933800-13983600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:13934200-13968000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr7:13945600-13974400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr7:13946200-13969200	Weak transcription	Liver	Liver
6	chr7:13949000-13969000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr7:13949200-13969000	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr7:13949200-13969200	Weak transcription	Left Ventricle	heart
9	chr7:13949400-13962200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr7:13960200-13963400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr7:13960200-13971200	Weak transcription	Pancreas	Pancrea
12	chr7:13960200-13973000	Weak transcription	Aorta	Aorta
13	chr7:13960200-13983600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr7:13960200-13987400	Weak transcription	K562	blood
15	chr7:13960200-13988200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr7:13960400-13964600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr7:13960400-13967200	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr7:13960400-13967200	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr7:13960400-13969000	Weak transcription	Fetal Muscle Leg	muscle
20	chr7:13960400-13969200	Weak transcription	Fetal Stomach	stomach
21	chr7:13960400-13969200	Weak transcription	Right Ventricle	heart
22	chr7:13960400-13971200	Weak transcription	Fetal Brain Female	brain
23	chr7:13960400-13985200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr7:13960400-13989000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr7:13960600-13964400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr7:13960600-13966200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr7:13960600-13971000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr7:13960600-13973000	Weak transcription	Fetal Kidney	kidney
29	chr7:13960600-13975600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr7:13960600-13978400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr7:13960600-13979600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr7:13960800-13964400	Weak transcription	Fetal Heart	heart
33	chr7:13960800-13977000	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr7:13960800-13985400	Weak transcription	NH-A	brain
35	chr7:13961000-13962200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr7:13961000-13962200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr7:13961000-13962600	Weak transcription	Osteobl	bone
38	chr7:13961000-13968600	Weak transcription	Fetal Lung	lung
39	chr7:13961200-13962400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr7:13961200-13964200	Weak transcription	HUVEC	blood vessel
41	chr7:13961200-13966000	Weak transcription	Fetal Intestine Small	intestine
42	chr7:13961200-13966200	Weak transcription	Fetal Intestine Large	intestine
43	chr7:13961200-13972400	Weak transcription	NHLF	lung
44	chr7:13961400-13968400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr7:13961400-13985000	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr7:13961600-13963000	Strong transcription	HUES64 Cell Line	embryonic stem cell
47	chr7:13961800-13962800	Enhancers	NHDF-Ad	bronchial
48	chr7:13961800-13963200	Strong transcription	Cortex derived primary cultured neurospheres	brain
49	chr7:13961800-13979000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr7:13962000-13962600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links