Variant report

Variant	rs55995107
Chromosome Location	chr7:127723868-127723869
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:127723452-127728216	K562	blood:	n/a	n/a
2	POLR2A	chr7:127723677-127727203	K562	blood:	n/a	n/a
3	EP300	chr7:127723636-127726980	SK-N-SH	brain:	n/a	n/a
4	POLR2A	chr7:127723646-127723943	K562	blood:	n/a	n/a
5	POLR2A	chr7:127723658-127724609	HL-60	blood:	n/a	n/a
6	POLR2A	chr7:127723547-127724014	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:127722230..127726375-chr7:127726679..127730619,5	K562	blood:

Variant related genes	Relation type
SND1	TF binding region
ENSG00000197157	Chromatin interaction

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

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

rs_ID	r²[population]
rs2286909	1.00[AFR][1000 genomes]
rs41281725	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55726025	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55754825	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55764223	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127669400-127726600	Weak transcription	Hela-S3	cervix
2	chr7:127692800-127724200	Weak transcription	Right Atrium	heart
3	chr7:127701600-127724600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr7:127702800-127727800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr7:127707800-127742200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr7:127709800-127724600	Weak transcription	NHDF-Ad	bronchial
7	chr7:127710600-127737800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr7:127711400-127724000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr7:127711600-127727400	Strong transcription	HepG2	liver
10	chr7:127711600-127735600	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr7:127711600-127736400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr7:127711800-127737800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr7:127712000-127728800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr7:127712200-127738200	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr7:127713000-127735000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr7:127713000-127737200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr7:127713200-127729600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr7:127713200-127736400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr7:127713400-127736400	Strong transcription	NHEK	skin
20	chr7:127713800-127738800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr7:127714400-127735000	Strong transcription	Primary T cells fromperipheralblood	blood
22	chr7:127714400-127738000	Strong transcription	Primary B cells from peripheral blood	blood
23	chr7:127714800-127734400	Strong transcription	Dnd41	blood
24	chr7:127715800-127738400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr7:127716800-127724800	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr7:127717000-127729000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr7:127717000-127738000	Weak transcription	Fetal Kidney	kidney
28	chr7:127717200-127724000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr7:127717200-127725200	Weak transcription	Fetal Brain Female	brain
30	chr7:127717200-127734000	Strong transcription	HUES48 Cell Line	embryonic stem cell
31	chr7:127717200-127736600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
32	chr7:127717200-127738600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr7:127717600-127729600	Strong transcription	Lung	lung
34	chr7:127717600-127736600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr7:127717600-127738800	Strong transcription	Liver	Liver
36	chr7:127717800-127725000	Strong transcription	Spleen	Spleen
37	chr7:127717800-127725600	Weak transcription	Stomach Mucosa	stomach
38	chr7:127717800-127728800	Strong transcription	Fetal Intestine Large	intestine
39	chr7:127717800-127736600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr7:127718000-127724200	Strong transcription	HSMMtube	muscle
41	chr7:127718000-127725000	Strong transcription	Rectal Mucosa Donor 29	rectum
42	chr7:127718000-127728200	Strong transcription	Adipose Nuclei	Adipose
43	chr7:127718200-127728000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
44	chr7:127718200-127736400	Strong transcription	Rectal Mucosa Donor 31	rectum
45	chr7:127718200-127736400	Strong transcription	Stomach Smooth Muscle	stomach
46	chr7:127718400-127725000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr7:127718400-127725600	Weak transcription	Small Intestine	intestine
48	chr7:127718400-127732800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr7:127718400-127736600	Strong transcription	Gastric	stomach
50	chr7:127718600-127727800	Weak transcription	Brain Germinal Matrix	brain

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