Variant report

Variant	rs55889918
Chromosome Location	chr7:127230617-127230618
allele	C/T
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	CTCF	chr7:127230602-127230650	Kidney_OC	kidney:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:127226810..127231119-chr7:127290066..127293801,4	MCF-7	breast:
2	chr7:127227908..127231054-chr7:127231482..127236620,11	MCF-7	breast:
3	chr7:127223375..127232960-chr7:127286940..127295803,24	K562	blood:
4	chr7:127222868..127230871-chr7:127290370..127294912,16	K562	blood:

Variant related genes	Relation type
GCC1	TF binding region
FSCN3	TF binding region
ENSG00000106328	Chromatin interaction
ENSG00000197157	Chromatin interaction
ENSG00000179562	Chromatin interaction
ENSG00000240790	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs3757790	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3757791	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3779536	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56910747	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs60535548	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs73720857	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127229400-127231000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr7:127229600-127230800	Weak transcription	HSMMtube	muscle
3	chr7:127229600-127231000	Weak transcription	Colonic Mucosa	Colon
4	chr7:127229600-127231800	Weak transcription	Fetal Heart	heart
5	chr7:127229600-127232000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr7:127229600-127232200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr7:127229600-127241000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr7:127229800-127230800	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr7:127229800-127230800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr7:127229800-127230800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr7:127229800-127230800	Weak transcription	Primary hematopoietic stem cells	blood
12	chr7:127229800-127230800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr7:127229800-127230800	Weak transcription	Lung	lung
14	chr7:127229800-127230800	Weak transcription	Ovary	ovary
15	chr7:127229800-127231000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr7:127229800-127231000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr7:127229800-127231000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr7:127229800-127231000	Weak transcription	Rectal Smooth Muscle	rectum
19	chr7:127229800-127231200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr7:127229800-127232200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr7:127229800-127232200	Strong transcription	HUES64 Cell Line	embryonic stem cell
22	chr7:127229800-127232800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr7:127229800-127232800	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr7:127229800-127233800	Strong transcription	Fetal Muscle Trunk	muscle
25	chr7:127229800-127234000	Strong transcription	Fetal Brain Female	brain
26	chr7:127229800-127237400	Weak transcription	Right Atrium	heart
27	chr7:127230000-127230800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr7:127230000-127230800	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr7:127230000-127230800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr7:127230000-127230800	Weak transcription	Brain Cingulate Gyrus	brain
31	chr7:127230000-127230800	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr7:127230000-127230800	Weak transcription	Thymus	Thymus
33	chr7:127230000-127230800	Weak transcription	HepG2	liver
34	chr7:127230000-127230800	Weak transcription	HUVEC	blood vessel
35	chr7:127230000-127230800	Weak transcription	NH-A	brain
36	chr7:127230000-127231000	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr7:127230000-127231000	Weak transcription	NHLF	lung
38	chr7:127230000-127231200	Strong transcription	HSMM	muscle
39	chr7:127230000-127231400	Strong transcription	A549	lung
40	chr7:127230000-127231600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr7:127230000-127232000	Strong transcription	HUES48 Cell Line	embryonic stem cell
42	chr7:127230000-127232000	Strong transcription	Sigmoid Colon	Sigmoid Colon
43	chr7:127230000-127232000	Strong transcription	Hela-S3	cervix
44	chr7:127230000-127232200	Strong transcription	HUES6 Cell Line	embryonic stem cell
45	chr7:127230000-127232200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
46	chr7:127230000-127232200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
47	chr7:127230000-127232200	Strong transcription	Cortex derived primary cultured neurospheres	brain
48	chr7:127230000-127232200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr7:127230000-127232200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr7:127230000-127232200	Strong transcription	Adipose Nuclei	Adipose

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