Variant report

Variant	rs10305293
Chromosome Location	chr17:38606207-38606208
allele	A/G
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:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:38461615..38484404-chr17:38597525..38608992,85	MCF-7	breast:
2	chr17:38587058..38589515-chr17:38604299..38606675,2	K562	blood:
3	chr17:38606152..38607007-chr17:38716618..38717155,2	MCF-7	breast:
4	chr17:38471466..38480107-chr17:38600254..38606378,11	MCF-7	breast:
5	chr17:38465023..38467882-chr17:38605018..38606705,2	MCF-7	breast:
6	chr17:38603691..38606464-chr17:38689047..38691053,2	MCF-7	breast:
7	chr17:38604733..38607720-chr17:38631085..38633963,2	MCF-7	breast:
8	chr17:38604732..38607075-chr17:38608237..38609916,2	K562	blood:
9	chr17:38604740..38607156-chr17:39843978..39846283,2	K562	blood:
10	chr17:38602079..38606730-chr17:38731015..38734149,5	MCF-7	breast:
11	chr17:38605020..38606887-chr7:2728742..2731232,2	MCF-7	breast:
12	chr17:38587889..38589952-chr17:38605595..38608184,2	MCF-7	breast:
13	chr17:38604010..38606679-chr17:38673420..38675786,2	MCF-7	breast:
14	chr17:38604720..38607522-chr17:38611521..38613702,2	MCF-7	breast:
15	chr17:38513402..38515252-chr17:38604684..38607579,2	K562	blood:
16	chr17:38517329..38520518-chr17:38602405..38606714,4	MCF-7	breast:
17	chr17:38602611..38606842-chr17:39683869..39688015,6	MCF-7	breast:
18	chr17:38519243..38521343-chr17:38603749..38607619,3	MCF-7	breast:
19	chr17:38606148..38608904-chr17:38656512..38658435,2	MCF-7	breast:
20	chr17:38603867..38606731-chr17:38684868..38687351,2	MCF-7	breast:
21	chr17:38604363..38606977-chr5:176923046..176925153,2	MCF-7	breast:
22	chr17:38603038..38607716-chr17:38714086..38717959,10	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000183153	Chromatin interaction
ENSG00000173812	Chromatin interaction
ENSG00000126353	Chromatin interaction
ENSG00000131759	Chromatin interaction
ENSG00000131746	Chromatin interaction
ENSG00000196923	Chromatin interaction
ENSG00000171345	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10305297	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10305302	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10305316	1.00[EUR][1000 genomes]
rs35464732	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35685936	0.83[AFR][1000 genomes]
rs72819623	1.00[EUR][1000 genomes]
rs72819624	1.00[EUR][1000 genomes]
rs72819626	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72819628	1.00[EUR][1000 genomes]
rs72819631	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72819632	1.00[EUR][1000 genomes]
rs72819633	1.00[EUR][1000 genomes]
rs9303287	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9895336	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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
2	nsv908223	chr17:38530799-38609187	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38600200-38609800	Transcr. at gene 5' and 3'	A549	lung
2	chr17:38600800-38613800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr17:38601800-38608200	Enhancers	Fetal Heart	heart
4	chr17:38601800-38608600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr17:38601800-38612600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr17:38601800-38614000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr17:38602000-38608600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr17:38602000-38609200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr17:38602200-38608400	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr17:38602200-38608400	Enhancers	Stomach Mucosa	stomach
11	chr17:38602200-38608600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr17:38602200-38608800	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr17:38602200-38609200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr17:38602200-38609600	Weak transcription	Brain Germinal Matrix	brain
15	chr17:38602200-38610400	Weak transcription	Primary B cells from cord blood	blood
16	chr17:38602200-38614000	Weak transcription	Fetal Brain Female	brain
17	chr17:38602200-38614400	Weak transcription	Brain Angular Gyrus	brain
18	chr17:38602400-38607400	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr17:38602800-38606600	Enhancers	Sigmoid Colon	Sigmoid Colon
20	chr17:38603000-38608400	Enhancers	Placenta	Placenta
21	chr17:38603000-38608600	Enhancers	Fetal Intestine Large	intestine
22	chr17:38603200-38609400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr17:38603400-38607000	Weak transcription	NH-A	brain
24	chr17:38603400-38611000	Weak transcription	Psoas Muscle	Psoas
25	chr17:38603600-38606600	Genic enhancers	Fetal Muscle Trunk	muscle
26	chr17:38603600-38607200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr17:38603600-38610200	Genic enhancers	Fetal Stomach	stomach
28	chr17:38603800-38606600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr17:38603800-38608600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr17:38603800-38608600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr17:38604400-38606600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr17:38604400-38607800	Enhancers	Fetal Intestine Small	intestine
33	chr17:38604400-38608200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr17:38604600-38606600	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr17:38604800-38607000	Weak transcription	Aorta	Aorta
36	chr17:38604800-38610600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr17:38605000-38606400	Enhancers	Fetal Kidney	kidney
38	chr17:38605000-38606600	Enhancers	H1 Cell Line	embryonic stem cell
39	chr17:38605000-38609200	Enhancers	Left Ventricle	heart
40	chr17:38605000-38609600	Weak transcription	Primary B cells from peripheral blood	blood
41	chr17:38605000-38610000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr17:38605000-38614800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr17:38605200-38607000	Enhancers	HUVEC	blood vessel
44	chr17:38605200-38608600	Weak transcription	Brain Substantia Nigra	brain
45	chr17:38605200-38608800	Enhancers	Ovary	ovary
46	chr17:38605200-38609000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr17:38605200-38609200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr17:38605200-38609200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr17:38605200-38609600	Enhancers	Skeletal Muscle Female	skeletal muscle
50	chr17:38605200-38611000	Genic enhancers	Muscle Satellite Cultured Cells	--

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