Variant report

Variant	rs56994060
Chromosome Location	chr7:105468939-105468940
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	chr7:105467716..105469978-chr7:105478235..105481087,2	MCF-7	breast:
2	chr7:105466838..105469254-chr7:105490953..105492991,2	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10245474	0.81[ASN][1000 genomes]
rs12531210	0.81[ASN][1000 genomes]
rs17356018	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2158897	0.81[ASN][1000 genomes]
rs4292623	0.81[ASN][1000 genomes]
rs4727629	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55911516	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs60327137	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs740306	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7786721	0.81[ASN][1000 genomes]
rs9691488	0.81[AMR][1000 genomes];0.96[EUR][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	nsv1027213	chr7:105438610-106022869	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:105430200-105479200	Weak transcription	Aorta	Aorta
2	chr7:105446400-105471200	Weak transcription	Lung	lung
3	chr7:105446800-105470000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr7:105446800-105470200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr7:105446800-105471200	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr7:105447000-105470000	Weak transcription	Ovary	ovary
7	chr7:105447200-105470200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr7:105447600-105470000	Weak transcription	NH-A	brain
9	chr7:105447800-105470600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr7:105448800-105470400	Weak transcription	Fetal Muscle Leg	muscle
11	chr7:105449000-105479200	Weak transcription	Esophagus	oesophagus
12	chr7:105450400-105470200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr7:105450800-105470200	Weak transcription	NHEK	skin
14	chr7:105452400-105471200	Weak transcription	Duodenum Mucosa	Duodenum
15	chr7:105452600-105470800	Weak transcription	Small Intestine	intestine
16	chr7:105452600-105471200	Weak transcription	Right Ventricle	heart
17	chr7:105452800-105470400	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr7:105456200-105470200	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr7:105456600-105470000	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr7:105457200-105478000	Weak transcription	Brain Anterior Caudate	brain
21	chr7:105457400-105469800	Weak transcription	Stomach Smooth Muscle	stomach
22	chr7:105457400-105470000	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr7:105457800-105469200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr7:105457800-105470000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr7:105458000-105470000	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr7:105459200-105470600	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr7:105459200-105473200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr7:105460200-105471000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr7:105461000-105471200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr7:105461400-105469800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr7:105461600-105473200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr7:105462000-105469800	Weak transcription	Fetal Stomach	stomach
33	chr7:105462600-105471400	Weak transcription	Primary T cells from cord blood	blood
34	chr7:105462800-105470400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr7:105462800-105473000	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr7:105463800-105470000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr7:105464200-105473200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr7:105464400-105471000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr7:105464600-105469800	Weak transcription	Rectal Smooth Muscle	rectum
40	chr7:105464800-105470200	Weak transcription	Placenta	Placenta
41	chr7:105465000-105470000	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr7:105465400-105506600	Weak transcription	Fetal Intestine Large	intestine
43	chr7:105465600-105470000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr7:105465800-105471200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr7:105465800-105473200	Enhancers	NHDF-Ad	bronchial
46	chr7:105466000-105470000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr7:105466000-105470000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr7:105466200-105473600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr7:105466400-105469400	Enhancers	Osteobl	bone
50	chr7:105466400-105472200	Enhancers	HepG2	liver

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