Variant report

Variant	rs55841143
Chromosome Location	chr7:6522129-6522130
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:41)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:41 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr7:6521981-6522305	HepG2	liver:	n/a	n/a
2	ARID3A	chr7:6521920-6522237	HepG2	liver:	n/a	n/a
3	HEY1	chr7:6521839-6522349	HepG2	liver:	n/a	n/a
4	FOXA1	chr7:6521835-6522323	HepG2	liver:	n/a	n/a
5	MAFF	chr7:6522000-6522330	HepG2	liver:	n/a	n/a
6	POLR2A	chr7:6521886-6522403	HepG2	liver:	n/a	n/a
7	FOXA1	chr7:6521902-6522339	HepG2	liver:	n/a	n/a
8	NFIC	chr7:6521908-6522303	HepG2	liver:	n/a	n/a
9	SP1	chr7:6521866-6522349	HepG2	liver:	n/a	n/a
10	TEAD4	chr7:6521870-6522714	HepG2	liver:	n/a	n/a
11	NFIC	chr7:6521905-6522407	HepG2	liver:	n/a	n/a
12	HEY1	chr7:6521929-6522435	HepG2	liver:	n/a	n/a
13	HNF4A	chr7:6521907-6522334	HepG2	liver:	n/a	chr7:6522150-6522165 chr7:6522125-6522140
14	MXI1	chr7:6521933-6524680	SK-N-SH	brain:	n/a	n/a
15	POLR2A	chr7:6521903-6522388	HepG2	liver:	n/a	n/a
16	MYBL2	chr7:6521887-6522494	HepG2	liver:	n/a	n/a
17	POLR2A	chr7:6521934-6522318	HepG2	liver:	n/a	n/a
18	ELF1	chr7:6521941-6522302	HepG2	liver:	n/a	n/a
19	POLR2A	chr7:6521879-6522359	GM12878	blood:	n/a	n/a
20	CREB1	chr7:6521848-6522407	HepG2	liver:	n/a	n/a
21	EP300	chr7:6521947-6522348	HepG2	liver:	n/a	n/a
22	FOXA2	chr7:6521892-6522292	HepG2	liver:	n/a	n/a
23	MXI1	chr7:6521978-6522256	HepG2	liver:	n/a	n/a
24	MXI1	chr7:6521875-6524294	IMR90	lung:	n/a	n/a
25	ZEB1	chr7:6521846-6522458	HepG2	liver:	n/a	n/a
26	GATA3	chr7:6522112-6522295	SH-SY5Y	brain:	n/a	n/a
27	MXI1	chr7:6522057-6522229	GM12878	blood:	n/a	n/a
28	HNF4A	chr7:6521880-6522335	HepG2	liver:	n/a	chr7:6522150-6522165 chr7:6522125-6522140
29	FOXA1	chr7:6521881-6522395	HepG2	liver:	n/a	n/a
30	POLR2A	chr7:6521038-6524115	HepG2	liver:	n/a	n/a
31	HDAC2	chr7:6521913-6522325	HepG2	liver:	n/a	n/a
32	HNF4G	chr7:6521835-6522404	HepG2	liver:	n/a	chr7:6522149-6522164 chr7:6522126-6522141
33	EP300	chr7:6521909-6522239	HepG2	liver:	n/a	n/a
34	HDAC2	chr7:6521897-6522397	HepG2	liver:	n/a	n/a
35	MYBL2	chr7:6521806-6522342	HepG2	liver:	n/a	n/a
36	TBP	chr7:6521970-6522375	HepG2	liver:	n/a	n/a
37	POLR2A	chr7:6521823-6524383	HepG2	liver:	n/a	n/a
38	HNF4G	chr7:6521921-6522311	HepG2	liver:	n/a	chr7:6522149-6522164 chr7:6522126-6522141
39	POLR2A	chr7:6521975-6522243	K562	blood:	n/a	n/a
40	FOXA1	chr7:6521838-6522350	HepG2	liver:	n/a	n/a
41	POLR2A	chr7:6521902-6524052	IMR90	lung:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:107863835..107864489-chr7:6521954..6522744,2	MCF-7	breast:
2	chr7:6485398..6489202-chr7:6520855..6525273,5	MCF-7	breast:
3	chr7:6521681..6526038-chr7:6526623..6531331,7	K562	blood:
4	chr7:6509730..6517655-chr7:6520090..6524473,18	K562	blood:
5	chr6:27857335..27860257-chr7:6521676..6523586,2	MCF-7	breast:
6	chr7:6521171..6524635-chr7:6615181..6617344,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000269781	TF binding region
ENSG00000136247	Chromatin interaction
ENSG00000136240	Chromatin interaction
ENSG00000164535	Chromatin interaction
ENSG00000231359	Chromatin interaction
ENSG00000197153	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs17198191	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17777087	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55832126	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs56133913	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs56209753	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56364677	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6961072	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948912	chr7:5803903-6623553	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
2	nsv1034060	chr7:5814823-6745710	Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
3	nsv538711	chr7:5814823-6745710	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
4	nsv1028242	chr7:5819084-6645024	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	127 gene(s)	inside rSNPs	diseases
5	nsv538712	chr7:5819084-6645024	Weak transcription Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	127 gene(s)	inside rSNPs	diseases
6	nsv949531	chr7:5949371-6753694	Strong transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	129 gene(s)	inside rSNPs	diseases
7	nsv1020236	chr7:6248930-6690377	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
8	nsv497874	chr7:6296768-6614902	Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
9	esv1824738	chr7:6431933-6554222	Transcr. at gene 5' and 3' Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
10	esv1825865	chr7:6431933-6554222	Strong transcription Genic enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
11	nsv1026878	chr7:6490387-6592374	Flanking Active TSS Genic enhancers Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	13 gene(s)	inside rSNPs	diseases
12	nsv830895	chr7:6514781-6722092	Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
13	nsv887429	chr7:6520676-6659509	Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
14	nsv887430	chr7:6520676-6668027	Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6503600-6522800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr7:6507600-6522400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:6507800-6522600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr7:6510200-6522200	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr7:6510200-6522400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:6510200-6522600	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr7:6513200-6522400	Weak transcription	Aorta	Aorta
8	chr7:6513200-6522400	Weak transcription	Lung	lung
9	chr7:6514000-6522400	Weak transcription	Thymus	Thymus
10	chr7:6517000-6522600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr7:6518800-6522400	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr7:6518800-6522400	Enhancers	Left Ventricle	heart
13	chr7:6519400-6522200	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr7:6519400-6522400	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr7:6519400-6522400	Enhancers	Stomach Mucosa	stomach
16	chr7:6519400-6522600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr7:6519600-6522200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr7:6519600-6522200	Transcr. at gene 5' and 3'	Osteobl	bone
19	chr7:6519800-6522400	Transcr. at gene 5' and 3'	NH-A	brain
20	chr7:6520000-6522200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
21	chr7:6520400-6522400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr7:6520400-6522400	Weak transcription	Psoas Muscle	Psoas
23	chr7:6520400-6522600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr7:6520800-6522200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr7:6520800-6524600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr7:6521000-6522200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
27	chr7:6521000-6522200	Transcr. at gene 5' and 3'	NHDF-Ad	bronchial
28	chr7:6521000-6522400	Weak transcription	Fetal Brain Female	brain
29	chr7:6521200-6522200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr7:6521200-6522400	Weak transcription	Esophagus	oesophagus
31	chr7:6521200-6522600	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chr7:6521200-6522800	Flanking Active TSS	Liver	Liver
33	chr7:6521400-6522200	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr7:6521400-6522200	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr7:6521400-6522400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr7:6521400-6522400	Enhancers	Primary T cells fromperipheralblood	blood
37	chr7:6521400-6522400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
38	chr7:6521400-6522400	Weak transcription	Gastric	stomach
39	chr7:6521400-6522600	Enhancers	Primary T killer memory cells from peripheral blood	blood
40	chr7:6521400-6522800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
41	chr7:6521400-6524000	Active TSS	Breast Myoepithelial Primary Cells	Breast
42	chr7:6521400-6524200	Active TSS	Pancreatic Islets	Pancreatic Islet
43	chr7:6521400-6524200	Active TSS	Pancreas	Pancrea
44	chr7:6521600-6522200	Enhancers	Primary T cells from cord blood	blood
45	chr7:6521600-6522200	Enhancers	Rectal Mucosa Donor 31	rectum
46	chr7:6521600-6522400	Enhancers	Fetal Brain Male	brain
47	chr7:6521600-6522400	Active TSS	HepG2	liver
48	chr7:6521600-6524600	Active TSS	HUES6 Cell Line	embryonic stem cell
49	chr7:6521800-6522200	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr7:6521800-6522200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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