Variant report

Variant	rs58747731
Chromosome Location	chr6:150359708-150359709
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:37)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:37 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr6:150359526-150359711	GM12892	blood:	n/a	n/a
2	TEAD4	chr6:150359491-150359818	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTCF	chr6:150359484-150359715	A549	lung:	n/a	n/a
4	TEAD4	chr6:150359474-150359756	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr6:150359533-150359722	GM19238	blood:	n/a	n/a
6	HEY1	chr6:150359437-150359717	K562	blood:	n/a	n/a
7	CTCF	chr6:150359580-150359730	HEEpiC	esophagus:	n/a	n/a
8	CTCF	chr6:150359526-150359748	GM12878	blood:	n/a	n/a
9	CTCF	chr6:150359521-150359738	MCF-7	breast:	n/a	n/a
10	CTCF	chr6:150359560-150359710	SAEC	small airway:	n/a	n/a
11	CTCF	chr6:150359560-150359710	HEEpiC	esophagus:	n/a	n/a
12	CTCF	chr6:150359523-150359749	K562	blood:	n/a	n/a
13	CTCF	chr6:150359509-150359772	K562	blood:	n/a	n/a
14	CTCF	chr6:150359537-150359747	MCF-7	breast:	n/a	n/a
15	CTCF	chr6:150359580-150359730	NHEK	skin:	n/a	n/a
16	CTCF	chr6:150359514-150359748	MCF-7	breast:	n/a	n/a
17	CTCF	chr6:150359560-150359710	HEK293	kidney:	n/a	n/a
18	CTCF	chr6:150359544-150359746	H1-hESC	embryonic stem cell:	n/a	n/a
19	CTCF	chr6:150359528-150359736	ProgFib	skin:	n/a	n/a
20	CTCF	chr6:150359560-150359710	HRE	kidney:	n/a	n/a
21	CTCF	chr6:150359524-150359720	GM12891	blood:	n/a	n/a
22	CTCF	chr6:150359600-150359750	NHEK	skin:	n/a	n/a
23	CTCF	chr6:150359574-150359739	Hela-S3	cervix:	n/a	n/a
24	CTCF	chr6:150359513-150359751	Gliobla	brain:	n/a	n/a
25	CTCF	chr6:150359506-150359763	NHEK	skin:	n/a	n/a
26	CTCF	chr6:150359508-150359813	K562	blood:	n/a	n/a
27	CTCF	chr6:150359580-150359730	SAEC	small airway:	n/a	n/a
28	CTCF	chr6:150359524-150359750	A549	lung:	n/a	n/a
29	CTCF	chr6:150359532-150359729	HUVEC	blood vessel:	n/a	n/a
30	CTCF	chr6:150359571-150359716	GM19240	blood:	n/a	n/a
31	CTCF	chr6:150359600-150359750	HMEC	breast:	n/a	n/a
32	CTCF	chr6:150359528-150359745	MCF-7	breast:	n/a	n/a
33	CTCF	chr6:150359519-150359751	Fibrobl	skin:	n/a	n/a
34	CTCF	chr6:150359515-150359753	MCF-7	breast:	n/a	n/a
35	CTCF	chr6:150359541-150359719	HepG2	liver:	n/a	n/a
36	POLR2A	chr6:150359585-150359800	HUVEC	blood vessel:	n/a	n/a
37	CTCF	chr6:150359560-150359710	AG04449	skin:	n/a	n/a

No data

Variant related genes	Relation type
PHBP1	TF binding region

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs7747300	0.98[AFR][1000 genomes]
rs7762947	0.98[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv886764	chr6:150114745-150393683	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv517022	chr6:150145001-150426272	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	esv7375	chr6:150324114-150388625	Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	esv3344440	chr6:150324131-150388650	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	esv3323918	chr6:150327978-150392099	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv886766	chr6:150335407-150364009	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv886767	chr6:150335407-150400488	Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
8	nsv5535	chr6:150339697-150361659	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv886768	chr6:150340035-150366143	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv886769	chr6:150346037-150364009	Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:150358200-150359800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
2	chr6:150358200-150359800	Bivalent Enhancer	Fetal Brain Male	brain
3	chr6:150358400-150359800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
4	chr6:150358400-150359800	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
5	chr6:150358400-150360200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
6	chr6:150358600-150359800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr6:150358600-150359800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
8	chr6:150358600-150359800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
9	chr6:150358600-150359800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
10	chr6:150358600-150359800	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr6:150358600-150359800	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
12	chr6:150358600-150359800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr6:150358600-150359800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr6:150358600-150359800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr6:150358600-150359800	Bivalent Enhancer	Liver	Liver
16	chr6:150358600-150359800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
17	chr6:150358600-150359800	Active TSS	Right Atrium	heart
18	chr6:150358600-150359800	Bivalent Enhancer	Stomach Mucosa	stomach
19	chr6:150358600-150360000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
20	chr6:150358600-150360000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
21	chr6:150358600-150360000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
22	chr6:150358800-150359800	Bivalent Enhancer	Placenta	Placenta
23	chr6:150358800-150359800	Bivalent Enhancer	Left Ventricle	heart
24	chr6:150358800-150359800	Flanking Bivalent TSS/Enh	HMEC	breast
25	chr6:150359000-150359800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr6:150359000-150359800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
27	chr6:150359000-150360000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
28	chr6:150359200-150359800	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
29	chr6:150359200-150359800	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
30	chr6:150359200-150359800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr6:150359200-150359800	Bivalent Enhancer	Adipose Nuclei	Adipose
32	chr6:150359200-150359800	Bivalent Enhancer	Brain Anterior Caudate	brain
33	chr6:150359200-150359800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
34	chr6:150359200-150359800	Enhancers	Pancreas	Pancrea
35	chr6:150359200-150360000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
36	chr6:150359400-150359800	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr6:150359400-150359800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
38	chr6:150359400-150359800	Enhancers	Spleen	Spleen
39	chr6:150359600-150359800	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
40	chr6:150359600-150359800	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
41	chr6:150359600-150359800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
42	chr6:150359600-150359800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr6:150359600-150359800	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
44	chr6:150359600-150359800	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
45	chr6:150359600-150359800	Flanking Active TSS	Ovary	ovary
46	chr6:150359600-150359800	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
47	chr6:150359600-150359800	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
48	chr6:150359600-150359800	Bivalent Enhancer	HSMM	muscle
49	chr6:150359600-150360000	Bivalent Enhancer	NHEK	skin

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