Variant report

Variant	rs62501488
Chromosome Location	chr7:150150057-150150058
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:150149201..150150977-chr7:150153948..150156004,2	K562	blood:
2	chr7:150145876..150148161-chr7:150149226..150153829,5	K562	blood:

Variant related genes	Relation type
ENSG00000171115	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs28699652	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34639818	1.00[ASN][1000 genomes]
rs35644663	1.00[ASN][1000 genomes]
rs4725886	1.00[ASN][1000 genomes]
rs4725901	1.00[ASN][1000 genomes]
rs56190733	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62501473	1.00[ASN][1000 genomes]
rs71537965	1.00[ASN][1000 genomes]
rs71539834	1.00[ASN][1000 genomes]
rs73172720	1.00[ASN][1000 genomes]
rs867819	1.00[ASN][1000 genomes]
rs998927	1.00[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	nsv1034409	chr7:149844639-150447071	Flanking Active TSS Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv608990	chr7:149961274-150707488	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	nsv1015582	chr7:149967986-150285104	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
4	nsv1017368	chr7:150016952-150655773	Bivalent Enhancer ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
5	nsv539195	chr7:150016952-150655773	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
6	esv1819714	chr7:150055837-150154944	Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
7	nsv1025129	chr7:150146593-150266217	Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150147000-150150800	Active TSS	Rectal Smooth Muscle	rectum
2	chr7:150147200-150150200	Active TSS	Brain Anterior Caudate	brain
3	chr7:150147200-150151000	Active TSS	Right Atrium	heart
4	chr7:150147400-150150800	Active TSS	Rectal Mucosa Donor 29	rectum
5	chr7:150147400-150150800	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
6	chr7:150147400-150150800	Flanking Active TSS	HUVEC	blood vessel
7	chr7:150147400-150151000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr7:150147400-150151000	Active TSS	Brain Hippocampus Middle	brain
9	chr7:150147600-150150600	Active TSS	Rectal Mucosa Donor 31	rectum
10	chr7:150147800-150150200	Active TSS	Esophagus	oesophagus
11	chr7:150147800-150150400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
12	chr7:150147800-150150400	Active TSS	Primary T helper naive cells from peripheral blood	blood
13	chr7:150147800-150150400	Active TSS	Lung	lung
14	chr7:150147800-150150800	Active TSS	Primary T killer memory cells from peripheral blood	blood
15	chr7:150147800-150150800	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
16	chr7:150147800-150151400	Active TSS	Liver	Liver
17	chr7:150147800-150151400	Active TSS	Colonic Mucosa	Colon
18	chr7:150148000-150150600	Active TSS	Psoas Muscle	Psoas
19	chr7:150148000-150151000	Active TSS	Small Intestine	intestine
20	chr7:150148400-150150600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
21	chr7:150148600-150150200	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
22	chr7:150148600-150150400	Active TSS	Primary T cells fromperipheralblood	blood
23	chr7:150148600-150150400	Active TSS	Left Ventricle	heart
24	chr7:150148600-150150600	Active TSS	Sigmoid Colon	Sigmoid Colon
25	chr7:150148800-150150200	Active TSS	Fetal Muscle Trunk	muscle
26	chr7:150149000-150150200	Active TSS	Fetal Intestine Small	intestine
27	chr7:150149000-150150200	Active TSS	Thymus	Thymus
28	chr7:150149200-150150400	Active TSS	Primary T helper naive cells fromperipheralblood	blood
29	chr7:150149200-150150600	Active TSS	Primary T helper cells PMA-I stimulated	--
30	chr7:150149200-150150600	Active TSS	Fetal Stomach	stomach
31	chr7:150149400-150150400	Active TSS	Adipose Nuclei	Adipose
32	chr7:150149400-150150400	Active TSS	Placenta	Placenta
33	chr7:150149400-150150600	Active TSS	Fetal Muscle Leg	muscle
34	chr7:150149400-150150800	Active TSS	GM12878-XiMat	blood
35	chr7:150149400-150151200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr7:150149400-150151400	Active TSS	Duodenum Mucosa	Duodenum
37	chr7:150149400-150153200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr7:150149600-150150200	Enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr7:150149600-150150200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
40	chr7:150149600-150150200	Active TSS	Skeletal Muscle Female	skeletal muscle
41	chr7:150149600-150150400	Active TSS	Right Ventricle	heart
42	chr7:150149600-150150400	Active TSS	Dnd41	blood
43	chr7:150149600-150150600	Active TSS	Skeletal Muscle Male	skeletal muscle
44	chr7:150149600-150150800	Weak transcription	Primary B cells from cord blood	blood
45	chr7:150149600-150151200	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr7:150149600-150151200	Weak transcription	Gastric	stomach
47	chr7:150149800-150150200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr7:150149800-150150200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
49	chr7:150149800-150150600	Flanking Active TSS	Fetal Thymus	thymus
50	chr7:150149800-150150800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood

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