Variant report

Variant	rs73401478
Chromosome Location	chr7:100005243-100005244
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:99955962..99956763-chr7:100004904..100005531,2	MCF-7	breast:
2	chr7:100005060..100005731-chr7:100047926..100048679,2	MCF-7	breast:
3	chr7:100001865..100004155-chr7:100004575..100006403,2	K562	blood:
4	chr7:99998688..100005691-chr7:100025198..100032529,13	K562	blood:
5	chr7:100004996..100007914-chr7:100015994..100017837,2	MCF-7	breast:
6	chr7:100004091..100007847-chr7:100024893..100029911,8	MCF-7	breast:
7	chr7:99965537..99967599-chr7:100004914..100006864,2	K562	blood:
8	chr7:99998424..100001095-chr7:100003477..100005440,2	MCF-7	breast:
9	chr7:99730003..99730978-chr7:100004893..100005438,2	MCF-7	breast:
10	chr7:99730002..99730801-chr7:100004939..100005448,2	K562	blood:
11	chr7:99999324..100001737-chr7:100003151..100006140,3	MCF-7	breast:
12	chr7:99971105..99971798-chr7:100004861..100005422,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000078487	Chromatin interaction
ENSG00000146834	Chromatin interaction
ENSG00000085514	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10256481	1.00[AMR][1000 genomes]
rs57310628	1.00[AMR][1000 genomes]
rs58497263	1.00[AMR][1000 genomes]
rs59251177	1.00[AMR][1000 genomes]
rs59338670	0.83[AFR][1000 genomes]
rs61246011	1.00[AMR][1000 genomes]
rs61611428	1.00[AMR][1000 genomes]
rs68049253	1.00[AMR][1000 genomes]
rs6958977	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6968343	1.00[AMR][1000 genomes]
rs6970350	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73399601	1.00[AMR][1000 genomes]
rs73401410	1.00[AMR][1000 genomes]
rs73401448	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73401452	1.00[AMR][1000 genomes]
rs73401466	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73401469	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73403324	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7796885	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3350965	chr7:99747460-100146105	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	304 gene(s)	inside rSNPs	diseases
2	esv1829095	chr7:99814675-100494084	Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	393 gene(s)	inside rSNPs	diseases
3	nsv831071	chr7:99918025-100113413	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	287 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99940800-100014600	Weak transcription	Right Atrium	heart
2	chr7:99962400-100020600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr7:99987800-100025400	Weak transcription	Right Ventricle	heart
4	chr7:99995000-100025400	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr7:99995000-100026000	Weak transcription	Primary T cells from cord blood	blood
6	chr7:99996000-100006800	Strong transcription	Primary neutrophils fromperipheralblood	blood
7	chr7:99996200-100007200	Weak transcription	Spleen	Spleen
8	chr7:99996200-100013800	Weak transcription	Fetal Stomach	stomach
9	chr7:99996200-100025400	Weak transcription	Brain Substantia Nigra	brain
10	chr7:99996600-100016800	Weak transcription	Brain Angular Gyrus	brain
11	chr7:99996600-100017000	Weak transcription	Adipose Nuclei	Adipose
12	chr7:99997000-100016000	Weak transcription	Ovary	ovary
13	chr7:99997400-100025600	Weak transcription	Aorta	Aorta
14	chr7:99998800-100008200	Weak transcription	Lung	lung
15	chr7:99998800-100025400	Weak transcription	Brain Cingulate Gyrus	brain
16	chr7:99999000-100025400	Weak transcription	Left Ventricle	heart
17	chr7:99999400-100025400	Weak transcription	Psoas Muscle	Psoas
18	chr7:100000200-100013000	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr7:100000200-100016800	Weak transcription	Brain Hippocampus Middle	brain
20	chr7:100000200-100025400	Weak transcription	Liver	Liver
21	chr7:100001400-100009800	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr7:100002800-100013200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr7:100002800-100025400	Weak transcription	Brain Anterior Caudate	brain
24	chr7:100004200-100005400	Enhancers	Stomach Mucosa	stomach
25	chr7:100004200-100005400	Enhancers	HMEC	breast
26	chr7:100004200-100005600	Enhancers	Fetal Thymus	thymus
27	chr7:100004200-100010800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr7:100004400-100005400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr7:100004400-100005400	Enhancers	GM12878-XiMat	blood
30	chr7:100004400-100005400	Enhancers	NH-A	brain
31	chr7:100004800-100005400	Enhancers	Primary B cells from peripheral blood	blood
32	chr7:100004800-100005400	Enhancers	Primary T helper cells PMA-I stimulated	--
33	chr7:100004800-100005600	Enhancers	Primary B cells from cord blood	blood
34	chr7:100005000-100005400	Enhancers	Primary T cells fromperipheralblood	blood
35	chr7:100005000-100005400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
36	chr7:100005000-100005400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
37	chr7:100005000-100005600	Enhancers	HSMMtube	muscle
38	chr7:100005000-100005600	Enhancers	K562	blood
39	chr7:100005200-100005400	Enhancers	Primary T helper cells fromperipheralblood	blood
40	chr7:100005200-100005400	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr7:100005200-100010000	Strong transcription	Monocytes-CD14+_RO01746	blood

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