Variant report

Variant	rs56280073
Chromosome Location	chr7:127492440-127492441
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	chr7:127483137..127486168-chr7:127489858..127492815,3	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs3757769	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57707296	0.82[ASN][1000 genomes]
rs7802695	1.00[ASN][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	nsv1022385	chr7:127246656-127971194	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv539120	chr7:127246656-127971194	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv1016143	chr7:127251359-127726762	Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv831123	chr7:127289511-127510396	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv526535	chr7:127445594-127623840	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127457000-127497800	Weak transcription	Gastric	stomach
2	chr7:127461000-127495600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr7:127461000-127497600	Weak transcription	Fetal Stomach	stomach
4	chr7:127471800-127495600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr7:127474000-127495800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr7:127476600-127496400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr7:127477800-127493200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr7:127479600-127493200	Weak transcription	Fetal Lung	lung
9	chr7:127481400-127501000	Weak transcription	Fetal Muscle Trunk	muscle
10	chr7:127481800-127495600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr7:127482600-127503200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr7:127483200-127497600	Weak transcription	Small Intestine	intestine
13	chr7:127483600-127495400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr7:127484000-127497800	Weak transcription	Lung	lung
15	chr7:127484600-127496600	Weak transcription	Primary hematopoietic stem cells	blood
16	chr7:127484600-127497200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr7:127484600-127497800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr7:127484600-127497800	Weak transcription	NHEK	skin
19	chr7:127484600-127498000	Weak transcription	Left Ventricle	heart
20	chr7:127484600-127498800	Weak transcription	Esophagus	oesophagus
21	chr7:127484800-127494400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr7:127484800-127498600	Weak transcription	Colonic Mucosa	Colon
23	chr7:127485000-127497800	Weak transcription	Pancreas	Pancrea
24	chr7:127485000-127512000	Weak transcription	Aorta	Aorta
25	chr7:127485200-127498000	Weak transcription	Psoas Muscle	Psoas
26	chr7:127485200-127505000	Weak transcription	HUVEC	blood vessel
27	chr7:127485200-127527800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr7:127485600-127522000	Weak transcription	Placenta	Placenta
29	chr7:127485800-127515200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr7:127486200-127496600	Weak transcription	HSMMtube	muscle
31	chr7:127486200-127498000	Weak transcription	Stomach Smooth Muscle	stomach
32	chr7:127486200-127498200	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr7:127486600-127497800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr7:127486800-127497800	Weak transcription	Rectal Smooth Muscle	rectum
35	chr7:127486800-127502400	Weak transcription	Hela-S3	cervix
36	chr7:127488000-127493200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr7:127488200-127516400	Weak transcription	HMEC	breast
38	chr7:127488400-127506000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr7:127488600-127495600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr7:127488600-127498000	Weak transcription	Right Atrium	heart
41	chr7:127488600-127498800	Weak transcription	Brain Hippocampus Middle	brain
42	chr7:127488600-127499000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr7:127488600-127504800	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr7:127488600-127510000	Weak transcription	Primary monocytes fromperipheralblood	blood
45	chr7:127488600-127515400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr7:127488800-127493000	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chr7:127488800-127495600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr7:127489000-127498000	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr7:127489000-127498200	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr7:127489200-127498400	Weak transcription	Adipose Nuclei	Adipose

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