Variant report

Variant	rs56101548
Chromosome Location	chr7:127302103-127302104
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:127290530..127295026-chr7:127301648..127308446,12	MCF-7	breast:

Variant related genes	Relation type
ENSG00000197157	Chromatin interaction
ENSG00000240790	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs3757772	0.87[EUR][1000 genomes]
rs41281725	1.00[EUR][1000 genomes]
rs55679923	1.00[EUR][1000 genomes]
rs56279409	1.00[EUR][1000 genomes]
rs56361057	1.00[AMR][1000 genomes];1.00[EUR][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	nsv831122	chr7:127143207-127357885	Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	nsv1031658	chr7:127266882-127376775	Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	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

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127293000-127304000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr7:127293200-127302200	Weak transcription	Aorta	Aorta
3	chr7:127293200-127304200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr7:127293200-127306000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:127293200-127306000	Weak transcription	Fetal Brain Female	brain
6	chr7:127293200-127322000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr7:127293200-127326600	Weak transcription	Stomach Smooth Muscle	stomach
8	chr7:127294600-127307400	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr7:127294800-127306200	Weak transcription	Brain Hippocampus Middle	brain
10	chr7:127294800-127307400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr7:127294800-127327400	Weak transcription	Fetal Kidney	kidney
12	chr7:127295000-127302800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr7:127295000-127303800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr7:127295000-127307400	Weak transcription	Esophagus	oesophagus
15	chr7:127295000-127314000	Weak transcription	Colon Smooth Muscle	Colon
16	chr7:127295000-127314000	Weak transcription	Ovary	ovary
17	chr7:127295000-127314000	Weak transcription	Spleen	Spleen
18	chr7:127295000-127315600	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr7:127295000-127318400	Weak transcription	Rectal Smooth Muscle	rectum
20	chr7:127295000-127322200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr7:127295200-127305600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr7:127295200-127305800	Weak transcription	Colonic Mucosa	Colon
23	chr7:127295200-127306000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr7:127295200-127317800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr7:127295200-127321800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr7:127295400-127306800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr7:127295400-127326400	Weak transcription	Thymus	Thymus
28	chr7:127295600-127304600	Weak transcription	NHDF-Ad	bronchial
29	chr7:127295600-127306000	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr7:127295600-127306000	Weak transcription	Hela-S3	cervix
31	chr7:127295600-127306000	Weak transcription	HSMM	muscle
32	chr7:127296000-127304200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr7:127296000-127305600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr7:127296000-127308800	Weak transcription	Primary hematopoietic stem cells	blood
35	chr7:127296200-127303800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr7:127296200-127304800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr7:127296200-127304800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr7:127296200-127305800	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr7:127296200-127306000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr7:127296200-127306000	Weak transcription	NHLF	lung
41	chr7:127296200-127306800	Weak transcription	HSMMtube	muscle
42	chr7:127296200-127309200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr7:127296200-127318200	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr7:127296200-127326600	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr7:127296400-127304000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr7:127296600-127308800	Weak transcription	Right Atrium	heart
47	chr7:127296600-127314000	Weak transcription	Lung	lung
48	chr7:127296600-127314000	Weak transcription	Right Ventricle	heart
49	chr7:127296800-127304400	Weak transcription	Pancreas	Pancrea
50	chr7:127296800-127306000	Weak transcription	Left Ventricle	heart

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