Variant report

Variant	rs998480
Chromosome Location	chr17:37755725-37755726
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:37752759..37755741-chr17:37758554..37761390,2	K562	blood:
2	chr17:37755164..37758080-chr17:37763158..37766067,2	K562	blood:
3	chr17:37753002..37755741-chr17:37759105..37761390,2	K562	blood:
4	chr17:37753789..37756022-chr17:37842487..37844626,2	K562	blood:

Variant related genes	Relation type
ENSG00000161395	Chromatin interaction
ENSG00000171532	Chromatin interaction
ENSG00000141736	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs34423252	1.00[EUR][1000 genomes]
rs5638	1.00[CEU][hapmap]
rs56845786	1.00[EUR][1000 genomes]
rs7226073	1.00[CEU][hapmap]
rs73304305	0.92[EUR][1000 genomes]
rs73985210	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs9532	1.00[CEU][hapmap]
rs9896679	1.00[CEU][hapmap]
rs9901481	0.85[AFR][1000 genomes]
rs9913626	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932024	chr17:37192290-37850932	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	92 gene(s)	inside rSNPs	diseases
2	nsv1066033	chr17:37333956-37795617	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	78 gene(s)	inside rSNPs	diseases
3	nsv543340	chr17:37333956-37795617	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	78 gene(s)	inside rSNPs	diseases
4	nsv1061951	chr17:37442228-37770903	Bivalent Enhancer Strong transcription Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
5	nsv543341	chr17:37442228-37770903	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
6	esv1825702	chr17:37487168-37876767	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
7	nsv532712	chr17:37521822-37768345	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
8	nsv833442	chr17:37692880-37861291	Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
9	nsv521294	chr17:37694709-37804858	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
10	nsv908205	chr17:37709422-37830900	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
11	nsv908206	chr17:37709422-37866005	Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
12	nsv908207	chr17:37709422-37922259	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
13	nsv833443	chr17:37725640-37882864	Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
14	nsv908208	chr17:37749259-37781849	Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
15	nsv908209	chr17:37749259-37790340	Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:37751200-37756000	Bivalent Enhancer	Fetal Brain Male	brain
2	chr17:37752800-37756400	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
3	chr17:37752800-37756800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
4	chr17:37752800-37757800	Bivalent Enhancer	Fetal Muscle Leg	muscle
5	chr17:37752800-37760200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
6	chr17:37753200-37756400	Bivalent Enhancer	Left Ventricle	heart
7	chr17:37753400-37755800	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr17:37753400-37756400	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
9	chr17:37753800-37756600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
10	chr17:37753800-37756600	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
11	chr17:37754000-37756000	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
12	chr17:37754000-37756200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
13	chr17:37754000-37756800	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
14	chr17:37754200-37755800	Bivalent Enhancer	Liver	Liver
15	chr17:37754200-37756400	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
16	chr17:37754400-37756200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
17	chr17:37754400-37756200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
18	chr17:37754400-37756400	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
19	chr17:37754400-37756400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
20	chr17:37754400-37756400	Enhancers	Gastric	stomach
21	chr17:37754400-37756400	Enhancers	Pancreas	Pancrea
22	chr17:37754400-37756400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
23	chr17:37754400-37757600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
24	chr17:37754600-37756000	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr17:37754600-37756000	Bivalent Enhancer	Brain Anterior Caudate	brain
26	chr17:37754600-37756200	Bivalent Enhancer	Esophagus	oesophagus
27	chr17:37754800-37755800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr17:37754800-37755800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr17:37754800-37755800	Bivalent Enhancer	Brain Substantia Nigra	brain
30	chr17:37754800-37756400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr17:37755000-37755800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
32	chr17:37755000-37755800	Flanking Active TSS	Right Atrium	heart
33	chr17:37755000-37755800	Flanking Active TSS	Right Ventricle	heart
34	chr17:37755000-37756200	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
35	chr17:37755000-37756200	Bivalent Enhancer	Stomach Mucosa	stomach
36	chr17:37755000-37756400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr17:37755000-37756400	Bivalent Enhancer	Lung	lung
38	chr17:37755000-37758000	Bivalent Enhancer	Fetal Stomach	stomach
39	chr17:37755200-37755800	Bivalent Enhancer	Fetal Heart	heart
40	chr17:37755200-37755800	Bivalent Enhancer	Fetal Intestine Small	intestine
41	chr17:37755200-37756000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
42	chr17:37755200-37756000	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
43	chr17:37755200-37756200	Bivalent/Poised TSS	Fetal Brain Female	brain
44	chr17:37755200-37757400	Bivalent Enhancer	Adipose Nuclei	Adipose
45	chr17:37755400-37755800	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
46	chr17:37755400-37755800	Bivalent Enhancer	Colon Smooth Muscle	Colon
47	chr17:37755400-37755800	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
48	chr17:37755400-37756000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
49	chr17:37755400-37756000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
50	chr17:37755400-37756000	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain

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