Variant report

Variant	rs534739496
Chromosome Location	chr17:38638439-38638440
allele	A/C
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	POLR2A	chr17:38638229-38638699	Hela-S3	cervix:	n/a	n/a
2	SP1	chr17:38638085-38639359	A549	lung:	n/a	chr17:38638553-38638567 chr17:38639056-38639070 chr17:38639159-38639168 chr17:38639159-38639169
3	POLR2A	chr17:38637848-38650725	A549	lung:	n/a	n/a
4	POLR2A	chr17:38638314-38638736	A549	lung:	n/a	n/a
5	POLR2A	chr17:38638177-38638633	MCF10A-Er-Src	breast:	n/a	n/a
6	POLR2A	chr17:38638333-38638624	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	FOSL2	chr17:38637793-38638804	A549	lung:	n/a	chr17:38638481-38638488
10	POLR2A	chr17:38638132-38638745	Hela-S3	cervix:	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	chr17:38638270-38638477	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr17:38638292-38638682	A549	lung:	n/a	n/a
16	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:74 , 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	chr17:38635200-38638600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr17:38635600-38639400	Enhancers	Primary B cells from cord blood	blood
13	chr17:38635800-38638600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
14	chr17:38635800-38638800	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr17:38635800-38638800	Enhancers	HepG2	liver
16	chr17:38635800-38641800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr17:38636000-38647000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr17:38636000-38648200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr17:38636000-38649600	Genic enhancers	HMEC	breast
20	chr17:38636200-38638600	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr17:38636400-38639200	Enhancers	Stomach Mucosa	stomach
22	chr17:38636400-38639600	Enhancers	Rectal Mucosa Donor 31	rectum
23	chr17:38636600-38639400	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr17:38636600-38639400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr17:38636600-38642600	Weak transcription	Right Atrium	heart
26	chr17:38636800-38642000	Genic enhancers	Hela-S3	cervix
27	chr17:38637000-38638600	Transcr. at gene 5' and 3'	A549	lung
28	chr17:38637000-38639400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr17:38637000-38640000	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr17:38637000-38640000	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr17:38637000-38640200	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr17:38637000-38640800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr17:38637000-38640800	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr17:38637000-38641000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr17:38637000-38643400	Enhancers	K562	blood
36	chr17:38637000-38644800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr17:38637200-38638600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr17:38637200-38639200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr17:38637200-38639400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
40	chr17:38637200-38639800	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr17:38637200-38641000	Weak transcription	NH-A	brain
42	chr17:38637200-38641200	Enhancers	Primary T cells fromperipheralblood	blood
43	chr17:38637200-38642000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr17:38637400-38638600	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr17:38637400-38638600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
46	chr17:38637400-38639200	Enhancers	Primary T helper naive cells from peripheral blood	blood
47	chr17:38637400-38640200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr17:38637400-38641000	Weak transcription	HSMM	muscle
49	chr17:38637400-38642000	Strong transcription	Placenta	Placenta
50	chr17:38637400-38642200	Weak transcription	Adipose Nuclei	Adipose

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