Variant report

Variant	rs883544
Chromosome Location	chr17:37387413-37387414
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:37329739..37332413-chr17:37385967..37387931,2	K562	blood:
2	chr17:37385522..37388485-chr17:37394783..37397321,2	K562	blood:
3	chr17:37355062..37368949-chr17:37377464..37389224,25	K562	blood:
4	chr17:37356601..37358342-chr17:37387250..37389319,3	K562	blood:
5	chr17:37386529..37388946-chr17:37423466..37425656,2	K562	blood:
6	chr17:37385765..37388752-chr17:37398596..37401259,2	MCF-7	breast:
7	chr17:37360836..37363197-chr17:37386687..37388864,2	K562	blood:

Variant related genes	Relation type
ENSG00000265460	Chromatin interaction
ENSG00000108298	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs632202	0.86[GIH][hapmap]

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	nsv1057470	chr17:37135183-37549816	Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
2	nsv543339	chr17:37135183-37549816	Strong transcription Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
3	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
4	nsv833441	chr17:37320807-37476796	Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
5	nsv908203	chr17:37327165-37405657	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Bivalent Enhancer Enhancers Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
6	nsv1061084	chr17:37333956-37501598	Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
7	nsv1060126	chr17:37333956-37659189	Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
8	nsv1057655	chr17:37333956-37732451	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
9	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
10	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
11	nsv908204	chr17:37349655-37682657	Genic enhancers Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs883544	DHRS11	cis	cerebellum	SCAN
rs883544	PGAP3	cis	cerebellum	SCAN
rs883544	PIGW	cis	parietal	SCAN
rs883544	STAC2	cis	parietal	SCAN
rs883544	NEUROD2	cis	parietal	SCAN
rs883544	CRKRS	Cis_1M	lymphoblastoid	RTeQTL
rs883544	LOC90110	cis	brain	BrainEAC

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:37382600-37387800	Weak transcription	Lung	lung
2	chr17:37382800-37387600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr17:37382800-37387600	Weak transcription	Pancreas	Pancrea
4	chr17:37382800-37388000	Weak transcription	Right Ventricle	heart
5	chr17:37382800-37388200	Weak transcription	Right Atrium	heart
6	chr17:37384000-37387600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr17:37384400-37388200	Weak transcription	Psoas Muscle	Psoas
8	chr17:37385600-37387600	Weak transcription	HSMM	muscle
9	chr17:37385600-37388200	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr17:37386000-37387600	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr17:37386000-37387800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr17:37386000-37388200	Weak transcription	HSMMtube	muscle
13	chr17:37386200-37387600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr17:37386200-37388000	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr17:37386200-37388000	Weak transcription	A549	lung
16	chr17:37386200-37388000	Weak transcription	HUVEC	blood vessel
17	chr17:37386200-37388000	Weak transcription	NH-A	brain
18	chr17:37386200-37388200	Weak transcription	K562	blood
19	chr17:37386800-37387600	Enhancers	Placenta	Placenta
20	chr17:37386800-37388000	Enhancers	Osteobl	bone
21	chr17:37386800-37388600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr17:37386800-37389000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr17:37387000-37388600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr17:37387000-37388800	Enhancers	Hela-S3	cervix
25	chr17:37387200-37387600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr17:37387200-37387600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr17:37387200-37388000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr17:37387200-37388000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr17:37387200-37388000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
30	chr17:37387200-37388000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
31	chr17:37387200-37388200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
32	chr17:37387200-37388200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
33	chr17:37387200-37388200	Bivalent Enhancer	Fetal Stomach	stomach
34	chr17:37387200-37388200	Enhancers	NHDF-Ad	bronchial
35	chr17:37387200-37388400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr17:37387200-37388600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr17:37387200-37388800	Enhancers	Fetal Lung	lung
38	chr17:37387200-37389000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
39	chr17:37387200-37389400	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr17:37387400-37387600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr17:37387400-37387800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr17:37387400-37387800	Enhancers	Fetal Brain Female	brain
43	chr17:37387400-37388000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr17:37387400-37388000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr17:37387400-37388000	Bivalent Enhancer	Brain Cingulate Gyrus	brain
46	chr17:37387400-37388000	Bivalent Enhancer	Brain Hippocampus Middle	brain
47	chr17:37387400-37388000	Bivalent Enhancer	Stomach Smooth Muscle	stomach
48	chr17:37387400-37388200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr17:37387400-37388200	Bivalent Enhancer	Adipose Nuclei	Adipose
50	chr17:37387400-37388200	Bivalent Enhancer	Fetal Muscle Leg	muscle

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