Variant report

Variant	rs13227308
Chromosome Location	chr7:105323286-105323287
allele	A/C
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	CEBPB	chr7:105323161-105323431	H1-hESC	embryonic stem cell:	n/a	chr7:105323316-105323327
2	CEBPB	chr7:105323154-105323468	K562	blood:	n/a	chr7:105323316-105323327
3	NFIC	chr7:105322644-105323344	ECC-1	luminal epithelium:	n/a	n/a
4	FOS	chr7:105323136-105323391	MCF10A-Er-Src	breast:	n/a	n/a
5	CEBPB	chr7:105323154-105323474	HepG2	liver:	n/a	chr7:105323316-105323327
6	EP300	chr7:105323196-105323416	Hela-S3	cervix:	n/a	n/a
7	CEBPB	chr7:105323174-105323470	A549	lung:	n/a	chr7:105323316-105323327
8	CEBPB	chr7:105323149-105323485	IMR90	lung:	n/a	chr7:105323316-105323327
9	CEBPB	chr7:105323140-105323484	Hela-S3	cervix:	n/a	chr7:105323316-105323327

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:105295635..105297294-chr7:105321836..105324476,2	K562	blood:

Variant related genes	Relation type
ATXN7L1	TF binding region

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

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11971669	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11974376	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11975353	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12705321	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs13223425	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13223649	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2075114	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs35832644	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3887375	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs71562671	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs71562672	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:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv528739	chr7:105318058-105346117	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:105306200-105325200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr7:105315200-105324200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr7:105317800-105331400	Weak transcription	Fetal Intestine Large	intestine
4	chr7:105318000-105327000	Weak transcription	Fetal Brain Female	brain
5	chr7:105319000-105329400	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr7:105319800-105325600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr7:105319800-105327800	Weak transcription	Fetal Intestine Small	intestine
8	chr7:105319800-105328200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr7:105319800-105331600	Weak transcription	Aorta	Aorta
10	chr7:105320000-105323400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr7:105320000-105323600	Weak transcription	Fetal Brain Male	brain
12	chr7:105320000-105323800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr7:105320000-105324000	Weak transcription	Primary T cells from cord blood	blood
14	chr7:105320000-105324400	Enhancers	Liver	Liver
15	chr7:105320000-105325600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr7:105320000-105328200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr7:105320000-105330800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr7:105320000-105330800	Weak transcription	Left Ventricle	heart
19	chr7:105320000-105330800	Weak transcription	Rectal Smooth Muscle	rectum
20	chr7:105320000-105331000	Weak transcription	Primary B cells from cord blood	blood
21	chr7:105320000-105331000	Weak transcription	Brain Hippocampus Middle	brain
22	chr7:105320000-105331000	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr7:105320000-105331000	Weak transcription	HUVEC	blood vessel
24	chr7:105320000-105331200	Weak transcription	Thymus	Thymus
25	chr7:105320000-105331400	Weak transcription	Right Atrium	heart
26	chr7:105320000-105331600	Weak transcription	Esophagus	oesophagus
27	chr7:105320200-105329400	Weak transcription	Primary B cells from peripheral blood	blood
28	chr7:105320600-105323400	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr7:105320800-105329800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr7:105321000-105323600	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr7:105321200-105323400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr7:105321200-105324000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr7:105321200-105329200	Weak transcription	Stomach Mucosa	stomach
34	chr7:105321200-105329400	Weak transcription	Primary T cells fromperipheralblood	blood
35	chr7:105321200-105329400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr7:105321400-105323400	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr7:105321400-105323600	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr7:105321400-105324200	Weak transcription	Spleen	Spleen
39	chr7:105321400-105325000	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr7:105321400-105327800	Weak transcription	Fetal Stomach	stomach
41	chr7:105321400-105328000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr7:105321400-105329400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr7:105321400-105331200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr7:105321400-105331200	Weak transcription	Psoas Muscle	Psoas
45	chr7:105321400-105331400	Weak transcription	Fetal Muscle Trunk	muscle
46	chr7:105321600-105323400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr7:105321600-105326000	Weak transcription	Ovary	ovary
48	chr7:105321600-105329400	Weak transcription	Stomach Smooth Muscle	stomach
49	chr7:105321600-105330200	Weak transcription	Brain Substantia Nigra	brain
50	chr7:105321600-105331000	Weak transcription	Brain Anterior Caudate	brain

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