Variant report

Variant	rs543121147
Chromosome Location	chr7:127603704-127603705
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:127602148..127604261-chr7:127608585..127610354,2	K562	blood:
2	chr7:127599109..127601690-chr7:127601773..127604580,2	K562	blood:

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 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	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
5	nsv1024743	chr7:127498695-127670004	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
6	esv3340739	chr7:127602566-127607614	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127569800-127615600	Weak transcription	Colonic Mucosa	Colon
2	chr7:127570600-127615600	Weak transcription	Small Intestine	intestine
3	chr7:127570600-127615800	Weak transcription	Esophagus	oesophagus
4	chr7:127570600-127616400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr7:127570800-127618200	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr7:127571000-127615600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr7:127571000-127615800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr7:127571400-127617800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr7:127571600-127618000	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr7:127576400-127607000	Weak transcription	Spleen	Spleen
11	chr7:127576400-127615800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr7:127578200-127616200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr7:127581200-127615400	Weak transcription	Gastric	stomach
14	chr7:127583200-127630600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr7:127584200-127607000	Weak transcription	Right Ventricle	heart
16	chr7:127584600-127607000	Weak transcription	Left Ventricle	heart
17	chr7:127584600-127607000	Weak transcription	Lung	lung
18	chr7:127584600-127609000	Weak transcription	Pancreas	Pancrea
19	chr7:127584600-127612400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr7:127584600-127617800	Weak transcription	Hela-S3	cervix
21	chr7:127585000-127607000	Weak transcription	HSMMtube	muscle
22	chr7:127585200-127607200	Weak transcription	Psoas Muscle	Psoas
23	chr7:127585200-127616400	Weak transcription	Thymus	Thymus
24	chr7:127585200-127616600	Weak transcription	A549	lung
25	chr7:127587400-127618000	Weak transcription	NHLF	lung
26	chr7:127587400-127635200	Weak transcription	NHDF-Ad	bronchial
27	chr7:127590200-127604800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr7:127590800-127607400	Weak transcription	Ovary	ovary
29	chr7:127591600-127613600	Weak transcription	Fetal Brain Male	brain
30	chr7:127594000-127615600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr7:127594000-127623400	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr7:127594200-127608000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr7:127594400-127616800	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr7:127594400-127618000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr7:127594600-127608600	Weak transcription	Primary neutrophils fromperipheralblood	blood
36	chr7:127594600-127608800	Weak transcription	Fetal Kidney	kidney
37	chr7:127594600-127608800	Weak transcription	NH-A	brain
38	chr7:127594600-127618000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr7:127594800-127609800	Weak transcription	HUVEC	blood vessel
40	chr7:127595000-127613200	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr7:127595200-127607000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr7:127595200-127607200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr7:127595600-127608000	Weak transcription	Brain Germinal Matrix	brain
44	chr7:127595600-127608800	Weak transcription	Right Atrium	heart
45	chr7:127596000-127613000	Weak transcription	Rectal Smooth Muscle	rectum
46	chr7:127596200-127608000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr7:127598800-127614800	Weak transcription	Fetal Stomach	stomach
48	chr7:127599000-127608600	Weak transcription	Osteobl	bone
49	chr7:127599400-127615200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr7:127599800-127615800	Weak transcription	Primary T cells fromperipheralblood	blood

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