Variant report

Variant	rs60112004
Chromosome Location	chr7:99995975-99995976
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:99978047..99980916-chr7:99994472..99996088,2	K562	blood:
2	chr7:99994209..99998185-chr7:100025031..100027675,3	MCF-7	breast:
3	chr7:99994749..99998401-chr7:100024795..100030238,6	K562	blood:
4	chr7:99995807..99997760-chr7:100031794..100034564,2	K562	blood:
5	chr7:99991415..99995291-chr7:99995877..99999195,3	K562	blood:
6	chr7:99994345..99998458-chr7:100026000..100028986,4	K562	blood:
7	chr7:99968901..99971855-chr7:99995392..99998373,2	K562	blood:

Variant related genes	Relation type
ENSG00000240211	Chromatin interaction
ENSG00000078487	Chromatin interaction
ENSG00000241357	Chromatin interaction
ENSG00000085514	Chromatin interaction
ENSG00000160813	Chromatin interaction
ENSG00000146834	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs34242818	1.00[AMR][1000 genomes]
rs57528748	1.00[AMR][1000 genomes]
rs57662248	1.00[AMR][1000 genomes]
rs73397512	1.00[AMR][1000 genomes]
rs73401429	1.00[AMR][1000 genomes]
rs73405329	1.00[AMR][1000 genomes]
rs73409003	1.00[AMR][1000 genomes]
rs7796719	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:45 , 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	chr7:99966400-99998000	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr7:99972600-99996000	Weak transcription	Brain Hippocampus Middle	brain
5	chr7:99973000-99999400	Weak transcription	Brain Anterior Caudate	brain
6	chr7:99976200-99998200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr7:99987800-100025400	Weak transcription	Right Ventricle	heart
8	chr7:99988600-99999800	Weak transcription	Gastric	stomach
9	chr7:99993200-99996400	Enhancers	Primary B cells from peripheral blood	blood
10	chr7:99993200-99996600	Enhancers	Primary B cells from cord blood	blood
11	chr7:99993800-99996200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr7:99993800-99996400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr7:99994000-99996000	Enhancers	Primary T cells fromperipheralblood	blood
14	chr7:99994200-99996200	Enhancers	Fetal Thymus	thymus
15	chr7:99994600-99996200	Enhancers	Rectal Mucosa Donor 29	rectum
16	chr7:99994800-99996200	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr7:99994800-99996200	Enhancers	Fetal Muscle Leg	muscle
18	chr7:99994800-99996200	Enhancers	Spleen	Spleen
19	chr7:99994800-99996600	Enhancers	Adipose Nuclei	Adipose
20	chr7:99994800-99997000	Enhancers	Ovary	ovary
21	chr7:99995000-99998800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr7:99995000-100025400	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr7:99995000-100026000	Weak transcription	Primary T cells from cord blood	blood
24	chr7:99995200-100005000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr7:99995400-99996000	Genic enhancers	Primary neutrophils fromperipheralblood	blood
26	chr7:99995400-99996200	Enhancers	Brain Substantia Nigra	brain
27	chr7:99995400-99996400	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr7:99995600-99996000	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr7:99995600-99996000	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
30	chr7:99995600-99996200	Enhancers	Fetal Muscle Trunk	muscle
31	chr7:99995600-99996400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr7:99995600-99996400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr7:99995600-99997000	Weak transcription	Lung	lung
34	chr7:99995600-99997400	Enhancers	HepG2	liver
35	chr7:99995600-100004400	Weak transcription	GM12878-XiMat	blood
36	chr7:99995600-100004800	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr7:99995800-99996000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr7:99995800-99996000	Transcr. at gene 5' and 3'	Monocytes-CD14+_RO01746	blood
39	chr7:99995800-99996200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr7:99995800-99996200	Bivalent Enhancer	Placenta	Placenta
41	chr7:99995800-99996600	Genic enhancers	Primary monocytes fromperipheralblood	blood
42	chr7:99995800-99996600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr7:99995800-99998000	Weak transcription	Brain Cingulate Gyrus	brain
44	chr7:99995800-100005200	Weak transcription	Primary T helper cells fromperipheralblood	blood
45	chr7:99995800-100005200	Weak transcription	Skeletal Muscle Male	skeletal muscle

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