Variant report

Variant	rs73377576
Chromosome Location	chr7:66183883-66183884
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	chr7:66092547..66095471-chr7:66182825..66184836,2	K562	blood:
2	chr7:66183509..66185499-chr7:66186909..66189328,2	K562	blood:

Variant related genes	Relation type
ENSG00000243335	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs57116165	1.00[AFR][1000 genomes]
rs58437050	1.00[AFR][1000 genomes]
rs61229245	1.00[AFR][1000 genomes]
rs73375308	1.00[AFR][1000 genomes]
rs73375312	1.00[AFR][1000 genomes]
rs73375336	1.00[AFR][1000 genomes]
rs73375341	1.00[AFR][1000 genomes]
rs73375369	1.00[AFR][1000 genomes]
rs73375386	1.00[AFR][1000 genomes]
rs73377516	1.00[AFR][1000 genomes]
rs73377532	1.00[AFR][1000 genomes]
rs73379714	1.00[AFR][1000 genomes]
rs73379717	1.00[AFR][1000 genomes]
rs73379759	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532124	chr7:65371521-66234730	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
2	nsv1026559	chr7:65617368-66370805	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
3	esv3385090	chr7:66146376-66205022	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	esv3401338	chr7:66147493-66206298	Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
5	nsv888328	chr7:66173040-66327654	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66148400-66184400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr7:66148400-66184800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr7:66149000-66199600	Weak transcription	Thymus	Thymus
4	chr7:66149600-66190200	Weak transcription	Hela-S3	cervix
5	chr7:66159600-66190600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr7:66162400-66189400	Weak transcription	Psoas Muscle	Psoas
7	chr7:66162600-66192400	Weak transcription	NH-A	brain
8	chr7:66162600-66196800	Weak transcription	Right Ventricle	heart
9	chr7:66163000-66190800	Weak transcription	Esophagus	oesophagus
10	chr7:66165200-66189800	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr7:66165400-66188600	Weak transcription	Lung	lung
12	chr7:66165400-66204600	Weak transcription	Rectal Smooth Muscle	rectum
13	chr7:66165800-66197000	Weak transcription	Right Atrium	heart
14	chr7:66169000-66187400	Weak transcription	Small Intestine	intestine
15	chr7:66173000-66190400	Weak transcription	Fetal Heart	heart
16	chr7:66173200-66190600	Weak transcription	Brain Substantia Nigra	brain
17	chr7:66174200-66184600	Strong transcription	Osteobl	bone
18	chr7:66174200-66190400	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr7:66175000-66190800	Weak transcription	Pancreas	Pancrea
20	chr7:66175000-66190800	Weak transcription	Spleen	Spleen
21	chr7:66176400-66204600	Weak transcription	Colonic Mucosa	Colon
22	chr7:66177200-66191200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr7:66177600-66193600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr7:66178000-66186200	Weak transcription	Placenta	Placenta
25	chr7:66178600-66186400	Weak transcription	Aorta	Aorta
26	chr7:66178600-66188400	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr7:66178600-66200400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr7:66178800-66186200	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr7:66178800-66186600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr7:66178800-66190200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr7:66178800-66193600	Weak transcription	Brain Cingulate Gyrus	brain
32	chr7:66178800-66197000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr7:66179000-66184200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr7:66179000-66189200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr7:66179000-66190000	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr7:66179000-66190600	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr7:66179000-66197200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr7:66179200-66184000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr7:66179200-66184800	Weak transcription	Primary B cells from peripheral blood	blood
40	chr7:66179200-66186200	Weak transcription	HSMM	muscle
41	chr7:66179200-66188000	Weak transcription	Primary hematopoietic stem cells	blood
42	chr7:66179200-66188200	Weak transcription	Fetal Brain Male	brain
43	chr7:66179200-66189800	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr7:66179200-66190400	Weak transcription	Brain Hippocampus Middle	brain
45	chr7:66179200-66200600	Weak transcription	Duodenum Mucosa	Duodenum
46	chr7:66179400-66184000	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr7:66179400-66184000	Strong transcription	Primary neutrophils fromperipheralblood	blood
48	chr7:66179400-66185000	Weak transcription	Primary B cells from cord blood	blood
49	chr7:66179400-66187800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr7:66179400-66188200	Weak transcription	Dnd41	blood

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