Variant report

Variant	rs13223446
Chromosome Location	chr7:128844953-128844954
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	CTCF	chr7:128844900-128845050	GM12864	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:128843409..128845217-chr7:128848701..128851018,2	K562	blood:

Variant related genes	Relation type
SMO	TF binding region
ENSG00000128602	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1061275	0.96[EUR][1000 genomes]
rs1061282	0.96[EUR][1000 genomes]
rs1061283	0.96[EUR][1000 genomes]
rs12706870	0.80[EUR][1000 genomes]
rs13221770	1.00[CEU][hapmap]
rs13225516	1.00[CEU][hapmap]
rs13229264	0.80[EUR][1000 genomes]
rs13231139	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13235047	0.80[EUR][1000 genomes]
rs13236334	0.80[EUR][1000 genomes]
rs13240434	0.80[EUR][1000 genomes]
rs13241894	0.80[EUR][1000 genomes]
rs13242728	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs13242765	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs13245719	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs13246455	1.00[CEU][hapmap]
rs2016607	1.00[CEU][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes]
rs2703099	1.00[JPT][hapmap]
rs34100080	0.80[EUR][1000 genomes]
rs34535486	0.80[EUR][1000 genomes]
rs34643315	0.80[EUR][1000 genomes]
rs34853082	0.80[EUR][1000 genomes]
rs34894139	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34989446	0.96[EUR][1000 genomes]
rs35239026	0.80[EUR][1000 genomes]
rs35678076	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35695777	0.80[EUR][1000 genomes]
rs4731559	1.00[JPT][hapmap]
rs56358283	1.00[AFR][1000 genomes]
rs71577835	0.80[EUR][1000 genomes]
rs71577849	0.80[EUR][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	nsv831127	chr7:128716256-128874691	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128829800-128845000	Weak transcription	Aorta	Aorta
2	chr7:128829800-128845600	Weak transcription	HSMMtube	muscle
3	chr7:128830000-128846200	Weak transcription	A549	lung
4	chr7:128830200-128845000	Weak transcription	Primary hematopoietic stem cells	blood
5	chr7:128830200-128845000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr7:128830200-128845000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr7:128830400-128845200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr7:128830400-128845200	Weak transcription	Right Ventricle	heart
9	chr7:128830600-128845000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr7:128830600-128845000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr7:128830600-128845000	Weak transcription	Right Atrium	heart
12	chr7:128830600-128845200	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr7:128830600-128845400	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr7:128830600-128845600	Weak transcription	Left Ventricle	heart
15	chr7:128830600-128846000	Weak transcription	Esophagus	oesophagus
16	chr7:128830600-128861800	Weak transcription	Thymus	Thymus
17	chr7:128831200-128845200	Weak transcription	Brain Germinal Matrix	brain
18	chr7:128831200-128845400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr7:128831200-128849400	Weak transcription	Fetal Thymus	thymus
20	chr7:128831400-128845600	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr7:128832000-128845400	Weak transcription	Fetal Kidney	kidney
22	chr7:128833200-128845000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr7:128834600-128853800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr7:128839400-128845000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr7:128839600-128845000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr7:128839600-128853600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr7:128839800-128845800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr7:128840800-128854200	Strong transcription	Fetal Stomach	stomach
29	chr7:128841400-128848400	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr7:128841400-128850200	Strong transcription	Fetal Muscle Trunk	muscle
31	chr7:128841400-128853400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr7:128841400-128855600	Weak transcription	HSMM	muscle
33	chr7:128842000-128853400	Strong transcription	Fetal Intestine Small	intestine
34	chr7:128842400-128845000	Weak transcription	Colon Smooth Muscle	Colon
35	chr7:128842400-128853400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr7:128842400-128864000	Weak transcription	Rectal Smooth Muscle	rectum
37	chr7:128842600-128845800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr7:128842600-128850400	Weak transcription	Gastric	stomach
39	chr7:128843000-128853200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr7:128843000-128853400	Strong transcription	Fetal Muscle Leg	muscle
41	chr7:128843200-128845000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr7:128843200-128852000	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr7:128843200-128853400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr7:128843200-128864000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr7:128843400-128845000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr7:128843400-128847800	Strong transcription	Fetal Lung	lung
47	chr7:128843400-128864200	Weak transcription	Spleen	Spleen
48	chr7:128843600-128845000	Weak transcription	HepG2	liver
49	chr7:128843600-128845800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr7:128843600-128850200	Weak transcription	Brain Hippocampus Middle	brain

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