Variant report

Variant	rs10305311
Chromosome Location	chr17:38613115-38613116
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

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	chr17:38611458..38614070-chr17:38618853..38620939,2	K562	blood:
8	chr17:38604720..38607522-chr17:38611521..38613702,2	MCF-7	breast:
9	chr17:38611392..38613871-chr17:38623323..38625961,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000141753	Chromatin interaction
ENSG00000131746	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12947305	1.00[MEX][hapmap]
rs7218663	1.00[MEX][hapmap]
rs9894493	0.82[YRI][hapmap]

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:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38600800-38613800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr17:38601800-38614000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr17:38602200-38614000	Weak transcription	Fetal Brain Female	brain
4	chr17:38602200-38614400	Weak transcription	Brain Angular Gyrus	brain
5	chr17:38605000-38614800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr17:38605200-38614400	Weak transcription	Thymus	Thymus
7	chr17:38605400-38613200	Weak transcription	Fetal Thymus	thymus
8	chr17:38605400-38616800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr17:38606400-38616400	Weak transcription	K562	blood
10	chr17:38606600-38614400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr17:38606600-38617400	Weak transcription	Small Intestine	intestine
12	chr17:38607000-38615000	Genic enhancers	Liver	Liver
13	chr17:38607600-38618400	Genic enhancers	NHLF	lung
14	chr17:38607800-38614000	Weak transcription	Brain Hippocampus Middle	brain
15	chr17:38607800-38615400	Strong transcription	HUVEC	blood vessel
16	chr17:38608400-38613200	Strong transcription	Placenta Amnion	Placenta Amnion
17	chr17:38608400-38613800	Strong transcription	HUES48 Cell Line	embryonic stem cell
18	chr17:38608600-38613600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr17:38608600-38613800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
20	chr17:38608600-38613800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr17:38608600-38614000	Strong transcription	H9 Cell Line	embryonic stem cell
22	chr17:38608600-38614400	Genic enhancers	Colon Smooth Muscle	Colon
23	chr17:38608600-38615400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr17:38608600-38615600	Strong transcription	Dnd41	blood
25	chr17:38608800-38613200	Strong transcription	HUES64 Cell Line	embryonic stem cell
26	chr17:38608800-38613200	Strong transcription	Rectal Mucosa Donor 31	rectum
27	chr17:38608800-38613600	Strong transcription	Fetal Intestine Small	intestine
28	chr17:38608800-38614200	Weak transcription	Brain Substantia Nigra	brain
29	chr17:38608800-38615800	Genic enhancers	NHDF-Ad	bronchial
30	chr17:38608800-38616400	Genic enhancers	Osteobl	bone
31	chr17:38609000-38613200	Weak transcription	HSMMtube	muscle
32	chr17:38609000-38614000	Strong transcription	Placenta	Placenta
33	chr17:38609000-38615000	Strong transcription	Rectal Mucosa Donor 29	rectum
34	chr17:38609200-38613200	Weak transcription	Aorta	Aorta
35	chr17:38609200-38613400	Strong transcription	H1 Cell Line	embryonic stem cell
36	chr17:38609200-38613400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr17:38609200-38614000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr17:38609200-38616000	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr17:38609400-38613200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr17:38609400-38613600	Strong transcription	Colonic Mucosa	Colon
41	chr17:38609600-38613400	Strong transcription	Spleen	Spleen
42	chr17:38609600-38613600	Strong transcription	Primary B cells from peripheral blood	blood
43	chr17:38609600-38613600	Weak transcription	HMEC	breast
44	chr17:38610400-38613800	Strong transcription	Primary B cells from cord blood	blood
45	chr17:38610400-38618600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr17:38610600-38613200	Strong transcription	Fetal Kidney	kidney
47	chr17:38610800-38615400	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr17:38611000-38613400	Strong transcription	HUES6 Cell Line	embryonic stem cell
49	chr17:38611000-38613800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr17:38611000-38616400	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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