Variant report

Variant	rs9303287
Chromosome Location	chr17:38614086-38614087
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:38608476..38611175-chr17:38612841..38616006,3	K562	blood:
2	chr17:38612055..38614566-chr17:38617242..38619590,2	K562	blood:
3	chr17:38611729..38614382-chr17:38632833..38635609,3	K562	blood:
4	chr17:38612531..38614627-chr17:38615912..38617544,2	MCF-7	breast:
5	chr17:38599194..38601222-chr17:38612081..38614290,2	K562	blood:
6	chr17:38604024..38606097-chr17:38612875..38614385,2	K562	blood:
7	chr17:38599579..38602497-chr17:38613595..38616074,3	K562	blood:

Variant related genes	Relation type
ENSG00000141753	Chromatin interaction
ENSG00000131746	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10305293	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10305297	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10305302	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10305316	1.00[EUR][1000 genomes]
rs35464732	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72819623	1.00[EUR][1000 genomes]
rs72819624	1.00[EUR][1000 genomes]
rs72819626	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72819628	1.00[EUR][1000 genomes]
rs72819631	0.93[EUR][1000 genomes]
rs72819632	1.00[EUR][1000 genomes]
rs72819633	1.00[EUR][1000 genomes]
rs9895336	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833445	chr17:38466474-38637969	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38602200-38614400	Weak transcription	Brain Angular Gyrus	brain
2	chr17:38605000-38614800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr17:38605200-38614400	Weak transcription	Thymus	Thymus
4	chr17:38605400-38616800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr17:38606400-38616400	Weak transcription	K562	blood
6	chr17:38606600-38614400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr17:38606600-38617400	Weak transcription	Small Intestine	intestine
8	chr17:38607000-38615000	Genic enhancers	Liver	Liver
9	chr17:38607600-38618400	Genic enhancers	NHLF	lung
10	chr17:38607800-38615400	Strong transcription	HUVEC	blood vessel
11	chr17:38608600-38614400	Genic enhancers	Colon Smooth Muscle	Colon
12	chr17:38608600-38615400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr17:38608600-38615600	Strong transcription	Dnd41	blood
14	chr17:38608800-38614200	Weak transcription	Brain Substantia Nigra	brain
15	chr17:38608800-38615800	Genic enhancers	NHDF-Ad	bronchial
16	chr17:38608800-38616400	Genic enhancers	Osteobl	bone
17	chr17:38609000-38615000	Strong transcription	Rectal Mucosa Donor 29	rectum
18	chr17:38609200-38616000	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr17:38610400-38618600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr17:38610800-38615400	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr17:38611000-38616400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr17:38611200-38614200	Weak transcription	Brain Germinal Matrix	brain
23	chr17:38611200-38615200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr17:38612000-38614400	Genic enhancers	Duodenum Smooth Muscle	Duodenum
25	chr17:38612000-38615000	Genic enhancers	Muscle Satellite Cultured Cells	--
26	chr17:38612000-38616200	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr17:38612200-38614800	Strong transcription	Sigmoid Colon	Sigmoid Colon
28	chr17:38612200-38615800	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr17:38612200-38616600	Genic enhancers	Fetal Stomach	stomach
30	chr17:38612400-38615000	Genic enhancers	Fetal Muscle Trunk	muscle
31	chr17:38612400-38615000	Genic enhancers	Fetal Muscle Leg	muscle
32	chr17:38612400-38615000	Genic enhancers	Right Ventricle	heart
33	chr17:38612400-38615400	Genic enhancers	Adipose Nuclei	Adipose
34	chr17:38612400-38619200	Enhancers	Right Atrium	heart
35	chr17:38612600-38615400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr17:38612600-38615600	Genic enhancers	Lung	lung
37	chr17:38612600-38616600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr17:38612800-38614400	Genic enhancers	HSMM	muscle
39	chr17:38612800-38615200	Enhancers	Fetal Brain Male	brain
40	chr17:38613000-38616800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr17:38613000-38617200	Genic enhancers	A549	lung
42	chr17:38613200-38614200	Genic enhancers	Rectal Mucosa Donor 31	rectum
43	chr17:38613200-38614400	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr17:38613200-38614400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr17:38613200-38614600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr17:38613200-38614600	Genic enhancers	Skeletal Muscle Male	skeletal muscle
47	chr17:38613200-38614600	Bivalent Enhancer	NHEK	skin
48	chr17:38613200-38615000	Enhancers	Aorta	Aorta
49	chr17:38613200-38615400	Enhancers	Fetal Thymus	thymus
50	chr17:38613200-38615400	Genic enhancers	Placenta Amnion	Placenta Amnion

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links