Variant report

Variant	rs574862353
Chromosome Location	chr17:38638913-38638914
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SP1	chr17:38638085-38639359	A549	lung:	n/a	chr17:38638553-38638567 chr17:38639056-38639070 chr17:38639159-38639168 chr17:38639159-38639169
2	POLR2A	chr17:38637848-38650725	A549	lung:	n/a	n/a
3	POLR2A	chr17:38638748-38638923	A549	lung:	n/a	n/a
4	POLR2A	chr17:38638776-38639033	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr17:38638494-38638942	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr17:38638823-38638918	A549	lung:	n/a	n/a
7	TCF12	chr17:38637770-38639740	A549	lung:	n/a	n/a
8	MAX	chr17:38637858-38639391	A549	lung:	n/a	chr17:38639062-38639072
9	POLR2A	chr17:38638883-38645646	MCF10A-Er-Src	breast:	n/a	n/a
10	CREB1	chr17:38638553-38639028	A549	lung:	n/a	n/a
11	JUND	chr17:38638328-38639015	A549	lung:	n/a	chr17:38638481-38638488
12	POLR2A	chr17:38638225-38638938	A549	lung:	n/a	n/a
13	POLR2A	chr17:38638406-38638957	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr17:38638060-38645729	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:38638255..38640177-chr17:38640329..38642532,3	K562	blood:

Variant related genes	Relation type
TNS4	TF binding region

Extended variants
information (count: 2 )
Associated
traits (count: 0)

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	nsv1058185	chr17:38629339-38689908	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv908224	chr17:38638251-38651447	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region	4 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	chr17:38627400-38646200	Weak transcription	Gastric	stomach
2	chr17:38631800-38639600	Enhancers	Primary B cells from peripheral blood	blood
3	chr17:38632000-38639200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr17:38632400-38639200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr17:38632400-38641000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr17:38632800-38641000	Weak transcription	Osteobl	bone
7	chr17:38633000-38641000	Weak transcription	NHLF	lung
8	chr17:38633400-38643800	Weak transcription	Right Ventricle	heart
9	chr17:38634000-38639400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr17:38634200-38639800	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr17:38635600-38639400	Enhancers	Primary B cells from cord blood	blood
12	chr17:38635800-38641800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr17:38636000-38647000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr17:38636000-38648200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr17:38636000-38649600	Genic enhancers	HMEC	breast
16	chr17:38636400-38639200	Enhancers	Stomach Mucosa	stomach
17	chr17:38636400-38639600	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr17:38636600-38639400	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr17:38636600-38639400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr17:38636600-38642600	Weak transcription	Right Atrium	heart
21	chr17:38636800-38642000	Genic enhancers	Hela-S3	cervix
22	chr17:38637000-38639400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr17:38637000-38640000	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr17:38637000-38640000	Enhancers	Primary T helper cells PMA-I stimulated	--
25	chr17:38637000-38640200	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr17:38637000-38640800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr17:38637000-38640800	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr17:38637000-38641000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr17:38637000-38643400	Enhancers	K562	blood
30	chr17:38637000-38644800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr17:38637200-38639200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr17:38637200-38639400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
33	chr17:38637200-38639800	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr17:38637200-38641000	Weak transcription	NH-A	brain
35	chr17:38637200-38641200	Enhancers	Primary T cells fromperipheralblood	blood
36	chr17:38637200-38642000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr17:38637400-38639200	Enhancers	Primary T helper naive cells from peripheral blood	blood
38	chr17:38637400-38640200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr17:38637400-38641000	Weak transcription	HSMM	muscle
40	chr17:38637400-38642000	Strong transcription	Placenta	Placenta
41	chr17:38637400-38642200	Weak transcription	Adipose Nuclei	Adipose
42	chr17:38637400-38642400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr17:38637400-38642800	Weak transcription	Small Intestine	intestine
44	chr17:38637400-38645600	Weak transcription	Spleen	Spleen
45	chr17:38637400-38648200	Genic enhancers	NHEK	skin
46	chr17:38637600-38639200	Enhancers	Primary T killer memory cells from peripheral blood	blood
47	chr17:38637600-38639400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
48	chr17:38637600-38640200	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr17:38637600-38640200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr17:38637600-38640200	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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