Variant report

Variant	rs7552226
Chromosome Location	chr1:151146186-151146187
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:151146155-151146215	HUVEC	blood vessel:	n/a	n/a
2	POLR2A	chr1:151146094-151146332	HepG2	liver:	n/a	n/a
3	POLR2A	chr1:151145770-151146273	SK-N-MC	brain:	n/a	n/a
4	POLR2A	chr1:151145849-151146205	PFSK-1	brain:	n/a	n/a

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:151145804..151147304-chr3:73160043..73161626,2	K562	blood:
2	chr1:151137725..151143993-chr1:151144904..151151967,18	K562	blood:
3	chr1:151145784..151147284-chr17:41464721..41467181,3	K562	blood:
4	chr1:151144218..151146582-chr1:151148058..151150409,2	K562	blood:
5	chr1:151145804..151147305-chr11:62607623..62609125,2	K562	blood:
6	chr1:151145804..151147305-chr11:62607617..62609120,2	K562	blood:
7	chr1:151144772..151148459-chr1:151159275..151164000,5	MCF-7	breast:
8	chr1:151145004..151146737-chr1:151156893..151159872,2	K562	blood:
9	chr1:151145784..151147284-chr1:160080984..160082488,2	K562	blood:
10	chr1:151145784..151147304-chr17:41464225..41467708,3	MCF-7	breast:
11	chr1:151145804..151147305-chr3:73158608..73161246,2	MCF-7	breast:
12	chr1:151145804..151148784-chr17:41380523..41383303,2	K562	blood:
13	chr1:151145784..151148805-chr10:103123108..103126127,5	K562	blood:

No data

Variant related genes	Relation type
TMOD4	TF binding region
ENSG00000163156	Chromatin interaction
ENSG00000223247	Chromatin interaction
ENSG00000163155	Chromatin interaction
ENSG00000163157	Chromatin interaction
ENSG00000236383	Chromatin interaction
ENSG00000188825	Chromatin interaction
ENSG00000163159	Chromatin interaction
ENSG00000222414	Chromatin interaction
ENSG00000133316	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10788801	0.86[ASW][hapmap];0.82[YRI][hapmap]
rs3811405	0.86[ASW][hapmap];0.88[YRI][hapmap]
rs4636463	0.86[ASW][hapmap];0.89[LWK][hapmap];0.81[YRI][hapmap]
rs4971011	0.85[AFR][1000 genomes]
rs4971018	0.86[ASW][hapmap];0.82[LWK][hapmap];0.85[YRI][hapmap]
rs6678528	0.86[ASW][hapmap]
rs6695901	0.82[AFR][1000 genomes]
rs7521416	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001897	chr1:150743271-151241600	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv535158	chr1:150743271-151241600	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv522840	chr1:150933723-151347746	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	169 gene(s)	inside rSNPs	diseases
4	nsv916272	chr1:150961809-151557253	Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	219 gene(s)	inside rSNPs	diseases
5	nsv831559	chr1:151109459-151239921	Active TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
6	nsv831570	chr1:151129020-151281778	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	106 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151139600-151147000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr1:151139600-151148400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:151139600-151149800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:151139600-151158600	Strong transcription	Fetal Stomach	stomach
5	chr1:151139600-151158600	Strong transcription	Lung	lung
6	chr1:151139600-151161600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr1:151139800-151146800	Weak transcription	Fetal Brain Male	brain
8	chr1:151139800-151147000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr1:151139800-151148200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr1:151139800-151149000	Weak transcription	Small Intestine	intestine
11	chr1:151139800-151158600	Strong transcription	Primary neutrophils fromperipheralblood	blood
12	chr1:151139800-151158600	Strong transcription	Fetal Intestine Small	intestine
13	chr1:151139800-151159000	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr1:151139800-151159400	Strong transcription	Fetal Brain Female	brain
15	chr1:151140000-151146200	Strong transcription	Fetal Muscle Trunk	muscle
16	chr1:151140000-151146800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr1:151140000-151146800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr1:151140000-151146800	Weak transcription	NH-A	brain
19	chr1:151140000-151147200	Strong transcription	Brain Germinal Matrix	brain
20	chr1:151140000-151149400	Weak transcription	K562	blood
21	chr1:151140000-151153400	Strong transcription	Placenta	Placenta
22	chr1:151140000-151158600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr1:151140000-151158600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr1:151140000-151158600	Strong transcription	Duodenum Mucosa	Duodenum
25	chr1:151140000-151158600	Strong transcription	Fetal Intestine Large	intestine
26	chr1:151140000-151158600	Strong transcription	Fetal Thymus	thymus
27	chr1:151140000-151158600	Strong transcription	Spleen	Spleen
28	chr1:151140000-151158800	Strong transcription	Primary B cells from peripheral blood	blood
29	chr1:151140000-151158800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr1:151140000-151159200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr1:151140000-151159200	Strong transcription	Rectal Mucosa Donor 29	rectum
32	chr1:151140000-151160000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
33	chr1:151140000-151160800	Weak transcription	Stomach Mucosa	stomach
34	chr1:151140400-151146400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr1:151140600-151158600	Strong transcription	Primary T helper cells fromperipheralblood	blood
36	chr1:151140600-151158600	Strong transcription	Thymus	Thymus
37	chr1:151140600-151159800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
38	chr1:151140800-151146800	Weak transcription	HepG2	liver
39	chr1:151140800-151159000	Strong transcription	Primary T cells fromperipheralblood	blood
40	chr1:151141600-151149400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr1:151142000-151146800	Weak transcription	Hela-S3	cervix
42	chr1:151142200-151146800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr1:151142200-151147000	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr1:151142400-151146800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr1:151142400-151146800	Weak transcription	HUVEC	blood vessel
46	chr1:151142400-151147400	Weak transcription	Right Ventricle	heart
47	chr1:151142400-151148200	Weak transcription	Colon Smooth Muscle	Colon
48	chr1:151142600-151146600	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr1:151142600-151146800	Weak transcription	Ovary	ovary
50	chr1:151142600-151147600	Weak transcription	A549	lung

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