Variant report

Variant	rs13222718
Chromosome Location	chr7:8014321-8014322
allele	A/T
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	POLR2A	chr7:8013565-8015898	GM12878	blood:	n/a	n/a
2	MXI1	chr7:8013954-8014768	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:8012721..8014587-chr7:8046373..8049068,2	MCF-7	breast:
2	chr7:8006834..8014864-chr7:8015250..8023851,23	K562	blood:
3	chr7:8012321..8014472-chr7:8092130..8094206,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000233108	TF binding region
ENSG00000233264	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs12113109	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12702689	0.85[EUR][1000 genomes]
rs13225545	0.91[EUR][1000 genomes]
rs34059590	0.91[EUR][1000 genomes]
rs34156160	0.87[EUR][1000 genomes]
rs34438930	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34746652	0.91[EUR][1000 genomes]
rs35009545	0.89[EUR][1000 genomes]
rs35143180	0.91[EUR][1000 genomes]
rs35146192	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35149843	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35425218	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35509690	0.94[EUR][1000 genomes]
rs35567393	0.89[EUR][1000 genomes]
rs35641104	0.85[EUR][1000 genomes]
rs715377	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7793278	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7800750	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026758	chr7:7187491-8075259	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
2	nsv1032670	chr7:7535515-8017077	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
3	esv2752177	chr7:7729247-8177689	Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv917172	chr7:7854632-8807385	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
5	nsv1030180	chr7:7860424-8059221	Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
6	esv3346837	chr7:7915187-8068557	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv1020161	chr7:7929384-8047553	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 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	chr7:8009800-8014800	Active TSS	Brain Germinal Matrix	brain
2	chr7:8010000-8016200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr7:8010000-8016200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr7:8010400-8015600	Weak transcription	Small Intestine	intestine
5	chr7:8010400-8016200	Weak transcription	Left Ventricle	heart
6	chr7:8010800-8023600	Weak transcription	Psoas Muscle	Psoas
7	chr7:8011000-8016800	Weak transcription	Osteobl	bone
8	chr7:8011400-8023600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr7:8012000-8014400	Enhancers	Primary B cells from cord blood	blood
10	chr7:8012000-8014600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr7:8012000-8015800	Weak transcription	Spleen	Spleen
12	chr7:8012000-8016200	Weak transcription	Fetal Stomach	stomach
13	chr7:8012000-8017400	Weak transcription	Placenta	Placenta
14	chr7:8012000-8017400	Weak transcription	Rectal Smooth Muscle	rectum
15	chr7:8012000-8017400	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr7:8012000-8017600	Weak transcription	Aorta	Aorta
17	chr7:8012000-8018600	Weak transcription	Adipose Nuclei	Adipose
18	chr7:8012000-8018800	Weak transcription	Fetal Lung	lung
19	chr7:8012000-8020000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr7:8012200-8014800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr7:8012200-8015400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr7:8012200-8017000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr7:8012200-8017400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr7:8012200-8017400	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr7:8012200-8018000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr7:8012200-8018000	Enhancers	Primary T killer memory cells from peripheral blood	blood
27	chr7:8012200-8018400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr7:8012200-8020600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr7:8012400-8018200	Enhancers	Primary T helper cells fromperipheralblood	blood
30	chr7:8012600-8016600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr7:8012800-8014600	Weak transcription	Brain Angular Gyrus	brain
32	chr7:8012800-8015600	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr7:8012800-8015600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr7:8012800-8015600	Weak transcription	Fetal Thymus	thymus
35	chr7:8012800-8016200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr7:8012800-8017000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr7:8012800-8017200	Weak transcription	K562	blood
38	chr7:8012800-8017400	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr7:8012800-8019200	Weak transcription	Duodenum Mucosa	Duodenum
40	chr7:8012800-8019600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr7:8012800-8021000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr7:8013000-8014600	Weak transcription	Brain Anterior Caudate	brain
43	chr7:8013000-8014800	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr7:8013000-8015800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr7:8013000-8016400	Weak transcription	Brain Cingulate Gyrus	brain
46	chr7:8013000-8017000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr7:8013000-8017600	Weak transcription	Liver	Liver
48	chr7:8013200-8014600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr7:8013200-8014800	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr7:8013200-8015000	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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