Variant report

Variant	rs555805232
Chromosome Location	chr17:38347558-38347559
allele	A/G
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	MAZ	chr17:38347325-38348373	IMR90	lung:	n/a	chr17:38347461-38347471
2	UBTF	chr17:38347546-38348219	K562	blood:	n/a	n/a
3	CTCF	chr17:38347540-38347690	GM12873	blood:	n/a	n/a
4	CTCF	chr17:38347520-38347670	HBMEC	blood vessel:	n/a	n/a
5	SIN3AK20	chr17:38347545-38348132	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr17:38346472-38348857	SK-N-SH	brain:	n/a	chr17:38346852-38346861
7	PAX5	chr17:38347520-38348126	GM12892	blood:	n/a	n/a
8	POLR2A	chr17:38347500-38348087	ECC-1	luminal epithelium:	n/a	n/a
9	POLR2A	chr17:38346582-38348488	H1-hESC	embryonic stem cell:	n/a	n/a
10	SIN3A	chr17:38346739-38348233	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr17:38347524-38347756	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr17:38347480-38347780	A549	lung:	n/a	n/a
13	YY1	chr17:38347426-38348213	HepG2	liver:	n/a	chr17:38347459-38347468
14	YY1	chr17:38347554-38348244	GM12878	blood:	n/a	n/a
15	MAX	chr17:38347453-38348308	H1-hESC	embryonic stem cell:	n/a	chr17:38347461-38347471
16	POLR2A	chr17:38347531-38347764	H1-hESC	embryonic stem cell:	n/a	n/a
17	MAX	chr17:38347425-38348309	ECC-1	luminal epithelium:	n/a	chr17:38347461-38347471
18	MAX	chr17:38347423-38348302	A549	lung:	n/a	chr17:38347461-38347471
19	ELF1	chr17:38347425-38348234	GM12878	blood:	n/a	n/a
20	CTCF	chr17:38347510-38348985	A549	lung:	n/a	n/a
21	POLR2A	chr17:38347440-38348375	U87	brain:	n/a	n/a
22	E2F6	chr17:38347549-38347841	K562	blood:	n/a	chr17:38347813-38347822
23	POLR2A	chr17:38347516-38348138	GM12878	blood:	n/a	n/a
24	CTCF	chr17:38347525-38347784	K562	blood:	n/a	n/a
25	BACH1	chr17:38347544-38347682	H1-hESC	embryonic stem cell:	n/a	n/a
26	CTCF	chr17:38347538-38347682	GM12892	blood:	n/a	n/a
27	RAD21	chr17:38347458-38348390	SK-N-SH	brain:	n/a	chr17:38347497-38347509
28	MAX	chr17:38347490-38348251	H1-hESC	embryonic stem cell:	n/a	n/a
29	CTBP2	chr17:38347554-38348366	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr17:38347547-38347642	HUVEC	blood vessel:	n/a	n/a
31	POLR2A	chr17:38347455-38348189	GM12878	blood:	n/a	n/a
32	CTCF	chr17:38347440-38348346	K562	blood:	n/a	n/a
33	EGR1	chr17:38347401-38348179	K562	blood:	n/a	chr17:38347822-38347832 chr17:38347457-38347470 chr17:38347457-38347467 chr17:38347456-38347471 chr17:38347456-38347470 chr17:38347457-38347470 chr17:38347822-38347831 chr17:38347457-38347470 chr17:38347458-38347467 chr17:38347462-38347472 chr17:38347509-38347522 chr17:38347452-38347474 chr17:38347457-38347470 chr17:38347508-38347523
34	POLR2A	chr17:38347498-38347784	H1-hESC	embryonic stem cell:	n/a	n/a
35	ZBTB7A	chr17:38347472-38348380	ECC-1	luminal epithelium:	n/a	n/a
36	SMC3	chr17:38347255-38348411	SK-N-SH	brain:	n/a	n/a
37	POLR2A	chr17:38347495-38347720	A549	lung:	n/a	n/a
38	RCOR1	chr17:38347287-38348795	IMR90	lung:	n/a	n/a
39	POLR2A	chr17:38347490-38347707	K562	blood:	n/a	n/a
40	MTA3	chr17:38347421-38348436	GM12878	blood:	n/a	n/a
41	RCOR1	chr17:38347553-38348223	K562	blood:	n/a	n/a
42	MAX	chr17:38347355-38348394	A549	lung:	n/a	chr17:38347461-38347471
43	HMGN3	chr17:38347520-38348348	K562	blood:	n/a	n/a
44	POLR2A	chr17:38347307-38348375	U87	brain:	n/a	n/a
45	TAF1	chr17:38347532-38347797	H1-hESC	embryonic stem cell:	n/a	n/a
46	CTCF	chr17:38347520-38347670	GM12872	blood:	n/a	n/a
47	POLR2A	chr17:38347494-38348270	K562	blood:	n/a	n/a
48	POLR2A	chr17:38346602-38348385	H1-hESC	embryonic stem cell:	n/a	n/a
49	MAX	chr17:38347476-38348270	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:38277920..38280919-chr17:38344747..38347808,3	MCF-7	breast:
2	chr17:38346506..38348012-chr17:38375510..38377087,2	MCF-7	breast:
3	chr17:38330070..38334400-chr17:38346938..38351108,4	K562	blood:
4	chr17:38343572..38346037-chr17:38346737..38348238,2	K562	blood:

Variant related genes	Relation type
RAPGEFL1	TF binding region
ENSG00000171475	Chromatin interaction
ENSG00000188895	Chromatin interaction
ENSG00000108352	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833444	chr17:38242823-38437280	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv525796	chr17:38306365-38405037	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	esv3413265	chr17:38346576-38348974	Active TSS Genic enhancers Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38335200-38347800	Weak transcription	Small Intestine	intestine
2	chr17:38338000-38349800	Weak transcription	Dnd41	blood
3	chr17:38341000-38347800	Weak transcription	NHEK	skin
4	chr17:38346000-38347600	Weak transcription	HSMMtube	muscle
5	chr17:38346000-38348000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr17:38346400-38348000	Enhancers	Fetal Heart	heart
7	chr17:38346600-38347800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr17:38346800-38347600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr17:38346800-38347600	Enhancers	Liver	Liver
10	chr17:38346800-38347600	Genic enhancers	Sigmoid Colon	Sigmoid Colon
11	chr17:38346800-38347600	Enhancers	HMEC	breast
12	chr17:38346800-38348200	Active TSS	H9 Cell Line	embryonic stem cell
13	chr17:38346800-38348200	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr17:38346800-38348400	Flanking Active TSS	H1 Cell Line	embryonic stem cell
15	chr17:38346800-38348400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr17:38346800-38348600	Enhancers	Fetal Brain Male	brain
17	chr17:38347000-38347600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
18	chr17:38347000-38347600	Enhancers	Fetal Lung	lung
19	chr17:38347000-38347600	Enhancers	Lung	lung
20	chr17:38347000-38347600	Enhancers	HSMM	muscle
21	chr17:38347000-38347800	Enhancers	Fetal Kidney	kidney
22	chr17:38347000-38348000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
23	chr17:38347000-38348200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
24	chr17:38347000-38348200	Transcr. at gene 5' and 3'	Colonic Mucosa	Colon
25	chr17:38347000-38348200	Active TSS	Duodenum Mucosa	Duodenum
26	chr17:38347000-38348200	Active TSS	Pancreatic Islets	Pancreatic Islet
27	chr17:38347000-38348400	Enhancers	Stomach Mucosa	stomach
28	chr17:38347200-38347600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
29	chr17:38347200-38347600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
30	chr17:38347200-38347600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr17:38347200-38347600	Flanking Active TSS	Adipose Nuclei	Adipose
32	chr17:38347200-38347600	Enhancers	Esophagus	oesophagus
33	chr17:38347200-38347800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr17:38347200-38347800	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
35	chr17:38347200-38347800	Active TSS	Rectal Mucosa Donor 29	rectum
36	chr17:38347200-38347800	Active TSS	Stomach Smooth Muscle	stomach
37	chr17:38347200-38347800	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
38	chr17:38347200-38348000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr17:38347200-38348000	Active TSS	HUES6 Cell Line	embryonic stem cell
40	chr17:38347200-38348000	Active TSS	HUES64 Cell Line	embryonic stem cell
41	chr17:38347200-38348000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr17:38347200-38348000	Active TSS	Brain Anterior Caudate	brain
43	chr17:38347200-38348000	Active TSS	Fetal Intestine Small	intestine
44	chr17:38347200-38348000	Active TSS	Gastric	stomach
45	chr17:38347200-38348000	Active TSS	HepG2	liver
46	chr17:38347200-38348000	Flanking Active TSS	HUVEC	blood vessel
47	chr17:38347200-38348200	Active TSS	ES-I3 Cell Line	embryonic stem cell
48	chr17:38347200-38348200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr17:38347200-38348200	Active TSS	Breast Myoepithelial Primary Cells	Breast
50	chr17:38347200-38348200	Active TSS	Primary T cells from cord blood	blood

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