Variant report

Variant	rs17616248
Chromosome Location	chr7:12756598-12756599
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:12725982..12739416-chr7:12748956..12757396,41	K562	blood:
2	chr7:12755311..12757060-chr7:14029862..14032412,2	K562	blood:
3	chr7:12752442..12758611-chr7:12777091..12782449,9	K562	blood:
4	chr7:12753064..12757665-chr7:12839772..12843667,5	K562	blood:
5	chr7:12755272..12756942-chr7:13055576..13058177,2	K562	blood:
6	chr7:12558451..12560515-chr7:12754100..12757020,2	K562	blood:
7	chr7:12755040..12757208-chr7:13001272..13003633,2	K562	blood:
8	chr7:12755378..12757741-chr7:14022660..14025272,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000122644	Chromatin interaction
ENSG00000006468	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs13224178	1.00[AFR][1000 genomes]
rs13224956	1.00[AFR][1000 genomes]
rs13227930	1.00[AFR][1000 genomes]
rs13232089	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs13242483	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17616514	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28877021	1.00[ASN][1000 genomes]
rs34452532	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs34539754	1.00[AFR][1000 genomes]
rs34566369	1.00[AFR][1000 genomes]
rs34580221	1.00[AFR][1000 genomes]
rs35044018	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs35908302	1.00[AFR][1000 genomes]
rs55659055	1.00[ASN][1000 genomes]
rs56246037	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66620565	1.00[AFR][1000 genomes]
rs67346212	1.00[AFR][1000 genomes]
rs71529345	1.00[AFR][1000 genomes]
rs71536895	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73053466	1.00[AFR][1000 genomes]
rs73055418	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73055421	1.00[ASN][1000 genomes]
rs73055427	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73055444	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73055447	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73055457	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73055460	1.00[ASN][1000 genomes]
rs73055475	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73055491	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73061007	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73061023	1.00[ASN][1000 genomes]
rs73061030	1.00[ASN][1000 genomes]
rs892714	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024554	chr7:12214722-12967418	Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv538735	chr7:12214722-12967418	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv830907	chr7:12661239-12818250	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv932020	chr7:12676890-13239551	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
5	nsv830908	chr7:12695007-12870475	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
6	esv1794967	chr7:12710385-12758624	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	n/a
7	nsv868830	chr7:12712753-13517417	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
8	esv2422346	chr7:12739291-12883550	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv1027501	chr7:12743592-12927109	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv887641	chr7:12747443-12782062	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12752800-12756800	Enhancers	Fetal Intestine Large	intestine
2	chr7:12753400-12756600	Enhancers	Stomach Mucosa	stomach
3	chr7:12753600-12757000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr7:12754600-12756800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr7:12754800-12756800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr7:12754800-12756800	Enhancers	Small Intestine	intestine
7	chr7:12754800-12760400	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr7:12755000-12756600	Enhancers	Primary T cells from cord blood	blood
9	chr7:12755000-12756600	Enhancers	Fetal Stomach	stomach
10	chr7:12755000-12756800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr7:12755000-12756800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:12755200-12756800	Enhancers	Placenta	Placenta
13	chr7:12755200-12756800	Enhancers	Right Ventricle	heart
14	chr7:12755400-12756600	Enhancers	H1 Cell Line	embryonic stem cell
15	chr7:12755400-12756600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr7:12755400-12756800	Enhancers	Fetal Intestine Small	intestine
17	chr7:12755400-12756800	Enhancers	Left Ventricle	heart
18	chr7:12755400-12757000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr7:12755400-12757000	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr7:12755400-12757200	Enhancers	Right Atrium	heart
21	chr7:12755400-12758400	Weak transcription	Rectal Smooth Muscle	rectum
22	chr7:12755400-12758600	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr7:12755400-12761800	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr7:12755600-12756600	Enhancers	Brain Inferior Temporal Lobe	brain
25	chr7:12755600-12756600	Flanking Active TSS	A549	lung
26	chr7:12755600-12756800	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr7:12755600-12756800	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr7:12755600-12756800	Enhancers	Fetal Muscle Leg	muscle
29	chr7:12755600-12756800	Enhancers	Spleen	Spleen
30	chr7:12755600-12757000	Enhancers	Brain Germinal Matrix	brain
31	chr7:12755600-12758400	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr7:12755600-12758400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr7:12755600-12758400	Weak transcription	Fetal Lung	lung
34	chr7:12755600-12761800	Weak transcription	Primary neutrophils fromperipheralblood	blood
35	chr7:12755800-12756600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr7:12755800-12756600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr7:12755800-12756600	Enhancers	Brain Angular Gyrus	brain
38	chr7:12755800-12756600	Enhancers	Brain Hippocampus Middle	brain
39	chr7:12755800-12756600	Enhancers	Brain Substantia Nigra	brain
40	chr7:12755800-12756600	Weak transcription	Fetal Kidney	kidney
41	chr7:12755800-12756600	Enhancers	Rectal Mucosa Donor 29	rectum
42	chr7:12755800-12756600	Enhancers	Skeletal Muscle Male	skeletal muscle
43	chr7:12755800-12756600	Enhancers	HSMMtube	muscle
44	chr7:12755800-12756800	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr7:12755800-12756800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr7:12755800-12756800	Enhancers	Brain Anterior Caudate	brain
47	chr7:12755800-12757000	Enhancers	Adipose Nuclei	Adipose
48	chr7:12755800-12757000	Enhancers	Hela-S3	cervix
49	chr7:12755800-12757000	Enhancers	HMEC	breast
50	chr7:12755800-12757200	Enhancers	HUES64 Cell Line	embryonic stem cell

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