Variant report

Variant	rs55669539
Chromosome Location	chr7:6522637-6522638
allele	-/A
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	MAX	chr7:6522353-6524115	K562	blood:	n/a	chr7:6523556-6523565
2	MAX	chr7:6522584-6524165	Hela-S3	cervix:	n/a	chr7:6523556-6523565
3	GATA3	chr7:6522463-6523034	MCF-7	breast:	n/a	n/a
4	MAX	chr7:6522567-6523393	MCF-7	breast:	n/a	n/a
5	JUND	chr7:6522530-6523209	K562	blood:	n/a	n/a
6	MTA3	chr7:6522448-6523381	GM12878	blood:	n/a	n/a
7	HMGN3	chr7:6522527-6523997	K562	blood:	n/a	n/a
8	EP300	chr7:6522621-6522943	K562	blood:	n/a	n/a
9	ZNF384	chr7:6522480-6522646	K562	blood:	n/a	n/a
10	CTCF	chr7:6522520-6522670	HepG2	liver:	n/a	n/a
11	POLR2A	chr7:6522591-6524160	HUVEC	blood vessel:	n/a	n/a
12	HA-E2F1	chr7:6522568-6524203	MCF-7	breast:	n/a	chr7:6523881-6523890 chr7:6523500-6523510 chr7:6523862-6523872 chr7:6523856-6523866
13	POLR2A	chr7:6522492-6524230	K562	blood:	n/a	n/a
14	CTCF	chr7:6522540-6522690	K562	blood:	n/a	n/a
15	GATA3	chr7:6522416-6523034	T-47D	breast:	n/a	n/a
16	TEAD4	chr7:6521870-6522714	HepG2	liver:	n/a	n/a
17	MAX	chr7:6522629-6524167	NB4	blood:	n/a	chr7:6523556-6523565
18	MXI1	chr7:6521933-6524680	SK-N-SH	brain:	n/a	n/a
19	TCF12	chr7:6522607-6523127	A549	lung:	n/a	n/a
20	SIN3AK20	chr7:6522598-6523227	K562	blood:	n/a	n/a
21	CTCF	chr7:6522580-6522730	HCPEpiC	choroid plexus:	n/a	n/a
22	CHD1	chr7:6522373-6524009	GM12878	blood:	n/a	chr7:6523177-6523187
23	GATA1	chr7:6522405-6523052	PBDE	blood:	n/a	n/a
24	GTF2F1	chr7:6522527-6522999	Hela-S3	cervix:	n/a	n/a
25	POLR2A	chr7:6522630-6523232	K562	blood:	n/a	n/a
26	YY1	chr7:6522573-6524312	SK-N-SH	brain:	n/a	chr7:6523491-6523505 chr7:6523439-6523450 chr7:6523078-6523092 chr7:6523774-6523786 chr7:6523128-6523142 chr7:6523494-6523508
27	WRNIP1	chr7:6522509-6523105	GM12878	blood:	n/a	n/a
28	SIN3AK20	chr7:6522630-6523332	SK-N-SH	brain:	n/a	n/a
29	TEAD4	chr7:6522365-6522958	K562	blood:	n/a	n/a
30	RCOR1	chr7:6522550-6523211	K562	blood:	n/a	n/a
31	MAZ	chr7:6522604-6524288	IMR90	lung:	n/a	chr7:6523556-6523565
32	POLR2A	chr7:6522591-6523401	HepG2	liver:	n/a	n/a
33	SIN3AK20	chr7:6522516-6524260	MCF-7	breast:	n/a	n/a
34	UBTF	chr7:6522615-6523992	K562	blood:	n/a	n/a
35	POLR2A	chr7:6522612-6523923	HepG2	liver:	n/a	n/a
36	MXI1	chr7:6521875-6524294	IMR90	lung:	n/a	n/a
37	HEY1	chr7:6522618-6523346	K562	blood:	n/a	n/a
38	RFX5	chr7:6522507-6523138	Hela-S3	cervix:	n/a	n/a
39	CTCF	chr7:6522560-6522710	GM12865	blood:	n/a	n/a
40	POLR2A	chr7:6522579-6523329	Hela-S3	cervix:	n/a	n/a
41	CREB1	chr7:6522542-6523409	HepG2	liver:	n/a	chr7:6523138-6523151 chr7:6522796-6522809
42	POLR2A	chr7:6522370-6524106	GM12878	blood:	n/a	n/a
43	ATF1	chr7:6522614-6523091	K562	blood:	n/a	chr7:6522795-6522809
44	UBTF	chr7:6522609-6524147	K562	blood:	n/a	n/a
45	CREB1	chr7:6522541-6523412	HepG2	liver:	n/a	chr7:6523138-6523151 chr7:6522796-6522809
46	MAX	chr7:6522591-6524324	A549	lung:	n/a	chr7:6523556-6523565
47	GATA3	chr7:6522555-6522925	SH-SY5Y	brain:	n/a	n/a
48	POLR2A	chr7:6521038-6524115	HepG2	liver:	n/a	n/a
49	CHD1	chr7:6522457-6524240	IMR90	lung:	n/a	chr7:6523177-6523187
50	POLR2A	chr7:6522580-6523358	HL-60	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:107863835..107864489-chr7:6521954..6522744,2	MCF-7	breast:
2	chr7:6522385..6525546-chr7:6675389..6679461,5	MCF-7	breast:
3	chr7:6485398..6489202-chr7:6520855..6525273,5	MCF-7	breast:
4	chr7:6522590..6525464-chr7:6629667..6631342,2	K562	blood:
5	chr7:6521681..6526038-chr7:6526623..6531331,7	K562	blood:
6	chr7:6509730..6517655-chr7:6520090..6524473,18	K562	blood:
7	chr6:27857335..27860257-chr7:6521676..6523586,2	MCF-7	breast:
8	chr7:6486201..6489628-chr7:6522463..6525039,4	MCF-7	breast:
9	chr7:6521171..6524635-chr7:6615181..6617344,3	K562	blood:
10	chr7:6142905..6144683-chr7:6522279..6524664,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000269781	TF binding region
ENSG00000205903	Chromatin interaction
ENSG00000231359	Chromatin interaction
ENSG00000146576	Chromatin interaction
ENSG00000106346	Chromatin interaction
ENSG00000136240	Chromatin interaction
ENSG00000136247	Chromatin interaction
ENSG00000164535	Chromatin interaction
ENSG00000197153	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:15 , 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
15	esv3420137	chr7:6522252-6524800	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 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	chr7:6520800-6524600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr7:6521200-6522800	Flanking Active TSS	Liver	Liver
4	chr7:6521400-6522800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr7:6521400-6524000	Active TSS	Breast Myoepithelial Primary Cells	Breast
6	chr7:6521400-6524200	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr7:6521400-6524200	Active TSS	Pancreas	Pancrea
8	chr7:6521600-6524600	Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr7:6521800-6524400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr7:6522000-6522800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
11	chr7:6522000-6522800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr7:6522000-6522800	Flanking Active TSS	Brain Anterior Caudate	brain
13	chr7:6522000-6522800	Flanking Active TSS	Brain Germinal Matrix	brain
14	chr7:6522000-6522800	Flanking Active TSS	Stomach Smooth Muscle	stomach
15	chr7:6522000-6523000	Flanking Active TSS	Adipose Nuclei	Adipose
16	chr7:6522000-6523200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
17	chr7:6522000-6523200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr7:6522000-6523800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr7:6522000-6524000	Active TSS	Fetal Intestine Large	intestine
20	chr7:6522000-6524200	Active TSS	iPS-20b Cell Line	embryonic stem cell
21	chr7:6522000-6524400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr7:6522000-6524400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr7:6522000-6524400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr7:6522000-6524400	Active TSS	Right Atrium	heart
25	chr7:6522200-6522800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
26	chr7:6522200-6522800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
27	chr7:6522200-6523000	Flanking Active TSS	Primary T cells from cord blood	blood
28	chr7:6522200-6523000	Flanking Active TSS	Primary hematopoietic stem cells	blood
29	chr7:6522200-6523000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
30	chr7:6522200-6523000	Flanking Active TSS	Dnd41	blood
31	chr7:6522200-6523200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr7:6522200-6523200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
33	chr7:6522200-6523200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
34	chr7:6522200-6523600	Flanking Active TSS	Primary B cells from cord blood	blood
35	chr7:6522200-6524000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr7:6522200-6524000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr7:6522200-6524000	Active TSS	Placenta Amnion	Placenta Amnion
38	chr7:6522200-6524200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr7:6522200-6524200	Active TSS	Right Ventricle	heart
40	chr7:6522200-6524200	Active TSS	Small Intestine	intestine
41	chr7:6522200-6524200	Active TSS	HSMMtube	muscle
42	chr7:6522200-6524200	Active TSS	NHDF-Ad	bronchial
43	chr7:6522200-6524400	Active TSS	HUES64 Cell Line	embryonic stem cell
44	chr7:6522200-6524400	Active TSS	iPS-15b Cell Line	embryonic stem cell
45	chr7:6522200-6524400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr7:6522200-6524400	Active TSS	NHLF	lung
47	chr7:6522200-6524600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr7:6522400-6522800	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr7:6522400-6522800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
50	chr7:6522400-6522800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin

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