Variant report

Variant	rs73285189
Chromosome Location	chr7:27649117-27649118
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:27646490..27649640-chr7:27701348..27703322,3	K562	blood:
2	chr7:27647308..27649264-chr7:27813060..27815813,2	K562	blood:

Variant related genes	Relation type
ENSG00000106049	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs16874319	0.85[AMR][1000 genomes]
rs17155494	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs17155513	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1880371	1.00[AMR][1000 genomes]
rs59163753	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73282806	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73285164	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73299366	0.88[AFR][1000 genomes];1.00[AMR][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	nsv949025	chr7:27578167-28075172	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27582400-27650800	Weak transcription	Left Ventricle	heart
2	chr7:27609400-27651000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr7:27615600-27657800	Weak transcription	Aorta	Aorta
4	chr7:27616000-27650800	Weak transcription	Fetal Kidney	kidney
5	chr7:27626600-27654800	Weak transcription	Placenta	Placenta
6	chr7:27626800-27655800	Weak transcription	Primary hematopoietic stem cells	blood
7	chr7:27628200-27658400	Weak transcription	Duodenum Mucosa	Duodenum
8	chr7:27628600-27658400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr7:27629600-27655400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr7:27630200-27654600	Weak transcription	Primary B cells from cord blood	blood
11	chr7:27630400-27656800	Weak transcription	Stomach Smooth Muscle	stomach
12	chr7:27632200-27655600	Weak transcription	Primary T cells from cord blood	blood
13	chr7:27644200-27655400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr7:27644400-27649200	Enhancers	Fetal Intestine Small	intestine
15	chr7:27644400-27658400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr7:27645400-27655600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr7:27646000-27655200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr7:27646200-27649200	Enhancers	Fetal Intestine Large	intestine
19	chr7:27646200-27651800	Enhancers	Hela-S3	cervix
20	chr7:27646200-27655600	Weak transcription	Fetal Muscle Leg	muscle
21	chr7:27646200-27657800	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr7:27646400-27650800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr7:27646400-27650800	Weak transcription	NHDF-Ad	bronchial
24	chr7:27646400-27654800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr7:27646400-27655600	Weak transcription	Fetal Stomach	stomach
26	chr7:27646600-27649200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr7:27646600-27649200	Enhancers	HUVEC	blood vessel
28	chr7:27646600-27656600	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr7:27646600-27658400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr7:27646800-27649400	Enhancers	A549	lung
31	chr7:27646800-27650200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr7:27646800-27650400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr7:27646800-27655600	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr7:27646800-27657800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr7:27646800-27658800	Weak transcription	Osteobl	bone
36	chr7:27646800-27659600	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr7:27647000-27650400	Weak transcription	Fetal Lung	lung
38	chr7:27647000-27655800	Weak transcription	Ovary	ovary
39	chr7:27647000-27657200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr7:27647000-27660200	Weak transcription	Small Intestine	intestine
41	chr7:27647200-27650800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr7:27647200-27655600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr7:27647200-27655600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr7:27648000-27649200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr7:27648400-27649200	Flanking Active TSS	K562	blood
46	chr7:27648400-27649200	Enhancers	NHEK	skin
47	chr7:27648400-27649400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr7:27648400-27650000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr7:27648600-27650800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr7:27648600-27655600	Weak transcription	HepG2	liver

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