Variant report

Variant	rs4728080
Chromosome Location	chr7:127548412-127548413
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:127540563..127543536-chr7:127545716..127548575,3	K562	blood:
2	chr7:127545052..127549084-chr7:127551154..127554840,4	K562	blood:
3	chr7:127539496..127544017-chr7:127546415..127549727,4	MCF-7	breast:
4	chr7:127547698..127550637-chr7:127555388..127557682,2	K562	blood:
5	chr7:127545052..127549084-chr7:127550970..127554840,5	K562	blood:
6	chr7:127544913..127546736-chr7:127548351..127550204,2	K562	blood:
7	chr7:127532785..127535479-chr7:127547850..127550126,2	K562	blood:

No data

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

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs12672945	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3757771	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]

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	esv1199595	chr7:127548409-127548413	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127528800-127569200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr7:127529000-127557200	Weak transcription	Esophagus	oesophagus
3	chr7:127529200-127569400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr7:127529400-127551000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr7:127532200-127569200	Weak transcription	Hela-S3	cervix
6	chr7:127532400-127569200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr7:127539000-127556400	Weak transcription	Psoas Muscle	Psoas
8	chr7:127541000-127569200	Weak transcription	Fetal Muscle Leg	muscle
9	chr7:127541200-127569400	Weak transcription	Left Ventricle	heart
10	chr7:127541400-127550800	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr7:127542600-127553000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr7:127542600-127553000	Weak transcription	Ovary	ovary
13	chr7:127542600-127553400	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr7:127542800-127552800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr7:127542800-127554200	Weak transcription	Gastric	stomach
16	chr7:127543400-127549200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr7:127543600-127551400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
18	chr7:127544000-127549000	Enhancers	HepG2	liver
19	chr7:127544000-127549600	Enhancers	Fetal Intestine Small	intestine
20	chr7:127544200-127551000	Weak transcription	Spleen	Spleen
21	chr7:127544600-127551400	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr7:127544800-127551000	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr7:127544800-127554400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr7:127544800-127560600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr7:127545000-127549400	Enhancers	Pancreatic Islets	Pancreatic Islet
26	chr7:127545000-127550800	Weak transcription	Fetal Brain Male	brain
27	chr7:127545000-127569200	Weak transcription	Thymus	Thymus
28	chr7:127545000-127569200	Weak transcription	HSMMtube	muscle
29	chr7:127545200-127550800	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr7:127545200-127552400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr7:127545600-127552400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr7:127545800-127550000	Enhancers	Fetal Intestine Large	intestine
33	chr7:127545800-127552800	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr7:127545800-127555000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr7:127545800-127569200	Weak transcription	Primary hematopoietic stem cells	blood
36	chr7:127546000-127548600	Enhancers	Small Intestine	intestine
37	chr7:127546000-127549000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr7:127546000-127550800	Weak transcription	Right Atrium	heart
39	chr7:127546000-127566800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr7:127546200-127549000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr7:127546200-127550600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr7:127546200-127552800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr7:127546200-127553200	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr7:127546200-127554200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr7:127546200-127559000	Weak transcription	HSMM	muscle
46	chr7:127546200-127560400	Weak transcription	Pancreas	Pancrea
47	chr7:127546200-127569200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr7:127546400-127549400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr7:127546400-127558400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr7:127546400-127567400	Weak transcription	NHDF-Ad	bronchial

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