Variant report

Variant	rs4731389
Chromosome Location	chr7:127656198-127656199
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:127621460..127624086-chr7:127655580..127657464,2	MCF-7	breast:
2	chr7:127646218..127648423-chr7:127655785..127658353,2	K562	blood:
3	chr7:127342221..127343949-chr7:127655072..127657192,2	K562	blood:
4	chr7:127651063..127656520-chr7:127658090..127661426,7	K562	blood:
5	chr7:127654215..127656574-chr7:127869545..127871812,2	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1024910	0.81[ASN][1000 genomes]
rs1193333	0.81[ASN][1000 genomes]
rs1193335	0.81[ASN][1000 genomes]
rs2241291	0.81[ASN][1000 genomes]
rs3757760	0.81[ASN][1000 genomes]
rs3757763	0.81[ASN][1000 genomes]
rs3779527	0.81[ASN][1000 genomes]
rs6467155	0.81[ASN][1000 genomes]
rs6467156	0.81[ASN][1000 genomes]
rs7789322	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	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

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127631800-127660800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr7:127632600-127657600	Weak transcription	HUVEC	blood vessel
3	chr7:127634200-127657800	Weak transcription	NH-A	brain
4	chr7:127635600-127660600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr7:127635800-127660600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr7:127636000-127662400	Weak transcription	NHDF-Ad	bronchial
7	chr7:127637000-127658800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr7:127641200-127657000	Weak transcription	Stomach Mucosa	stomach
9	chr7:127641400-127657800	Weak transcription	Osteobl	bone
10	chr7:127641600-127657800	Weak transcription	HSMMtube	muscle
11	chr7:127641600-127670400	Weak transcription	Colonic Mucosa	Colon
12	chr7:127643000-127657200	Weak transcription	Hela-S3	cervix
13	chr7:127644000-127660200	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr7:127644000-127668800	Weak transcription	Dnd41	blood
15	chr7:127644000-127670200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr7:127644800-127667400	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr7:127644800-127670800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr7:127645000-127684000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr7:127645200-127661800	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr7:127645400-127670000	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr7:127646000-127660400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr7:127647600-127657800	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr7:127648400-127657800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr7:127650000-127659800	Strong transcription	K562	blood
25	chr7:127651200-127657200	Strong transcription	Spleen	Spleen
26	chr7:127651600-127657400	Weak transcription	Stomach Smooth Muscle	stomach
27	chr7:127651600-127659800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr7:127651800-127657000	Weak transcription	Brain Hippocampus Middle	brain
29	chr7:127651800-127657200	Weak transcription	Brain Cingulate Gyrus	brain
30	chr7:127651800-127659600	Strong transcription	HepG2	liver
31	chr7:127651800-127660600	Weak transcription	Left Ventricle	heart
32	chr7:127651800-127661600	Strong transcription	Fetal Intestine Small	intestine
33	chr7:127651800-127664400	Weak transcription	Right Ventricle	heart
34	chr7:127651800-127665600	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr7:127651800-127667600	Weak transcription	Colon Smooth Muscle	Colon
36	chr7:127651800-127668800	Weak transcription	Ovary	ovary
37	chr7:127651800-127670600	Weak transcription	Rectal Smooth Muscle	rectum
38	chr7:127652000-127656800	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr7:127652000-127657000	Weak transcription	Fetal Intestine Large	intestine
40	chr7:127652000-127660600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr7:127652400-127657400	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr7:127652600-127657600	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr7:127652600-127657800	Weak transcription	Brain Substantia Nigra	brain
44	chr7:127652600-127659000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr7:127652800-127657000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr7:127653000-127657800	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr7:127653000-127658000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr7:127653000-127658000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr7:127653000-127658600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr7:127653000-127658600	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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