Variant report

Variant	rs60410662
Chromosome Location	chr7:14018657-14018658
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:13972971..13975876-chr7:14017215..14019067,2	K562	blood:
2	chr7:14006507..14011484-chr7:14016197..14021172,5	K562	blood:
3	chr7:13997007..14000342-chr7:14017723..14020427,3	K562	blood:
4	chr7:13997566..14001513-chr7:14018273..14020813,4	K562	blood:
5	chr7:14016754..14019512-chr7:14048392..14050407,2	K562	blood:
6	chr7:13991446..13994404-chr7:14016165..14019066,2	K562	blood:

Variant related genes	Relation type
ENSG00000252374	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10224623	1.00[EUR][1000 genomes]
rs10225603	1.00[EUR][1000 genomes]
rs10239868	1.00[EUR][1000 genomes]
rs17167855	1.00[EUR][1000 genomes]
rs55872917	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73278730	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73278743	1.00[EUR][1000 genomes]
rs73278744	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73280514	1.00[EUR][1000 genomes]
rs73679057	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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	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
3	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
4	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
5	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
6	nsv887702	chr7:13995209-14027557	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv606279	chr7:13995209-14027991	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv887703	chr7:13997159-14027557	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	nsv887704	chr7:13997159-14029739	Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	nsv1030645	chr7:14015533-14078153	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv538739	chr7:14015533-14078153	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:13989000-14019400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:14002400-14019600	Weak transcription	K562	blood
3	chr7:14004400-14019400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:14005600-14019400	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr7:14005800-14018800	Weak transcription	NH-A	brain
6	chr7:14006000-14018800	Weak transcription	Osteobl	bone
7	chr7:14009800-14019800	Weak transcription	Fetal Kidney	kidney
8	chr7:14010200-14020200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr7:14010400-14027800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr7:14011800-14022400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr7:14012800-14027600	Weak transcription	Fetal Stomach	stomach
12	chr7:14013000-14019400	Weak transcription	HSMM	muscle
13	chr7:14013000-14027600	Weak transcription	Liver	Liver
14	chr7:14013000-14027800	Weak transcription	Aorta	Aorta
15	chr7:14013200-14019800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr7:14013200-14020200	Weak transcription	Adipose Nuclei	Adipose
17	chr7:14013600-14019400	Weak transcription	Fetal Brain Male	brain
18	chr7:14014200-14018800	Weak transcription	HUVEC	blood vessel
19	chr7:14014200-14018800	Weak transcription	NHLF	lung
20	chr7:14014600-14019200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr7:14014600-14019600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr7:14014800-14018800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr7:14014800-14019400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr7:14015000-14019800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr7:14015000-14027600	Weak transcription	Fetal Muscle Trunk	muscle
26	chr7:14015800-14023800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr7:14016600-14019200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr7:14016600-14019400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr7:14016600-14019800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr7:14016600-14025800	Weak transcription	Left Ventricle	heart
31	chr7:14016800-14020200	Weak transcription	Fetal Muscle Leg	muscle
32	chr7:14017000-14024600	Enhancers	Fetal Heart	heart
33	chr7:14017200-14018800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr7:14017400-14018800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr7:14017400-14019200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr7:14017400-14019400	Enhancers	NHDF-Ad	bronchial
37	chr7:14017400-14020800	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr7:14017400-14023800	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr7:14017600-14020000	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr7:14017800-14019600	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr7:14018000-14018800	Weak transcription	Fetal Lung	lung
42	chr7:14018000-14019800	Weak transcription	HSMMtube	muscle
43	chr7:14018000-14020600	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr7:14018400-14019400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr7:14018400-14022000	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr7:14018600-14018800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
47	chr7:14018600-14019000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr7:14018600-14019800	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr7:14018600-14020200	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr7:14018600-14020400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links