Variant report

Variant	rs7028311
Chromosome Location	chr9:94803004-94803005
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	chr9:94800752..94804728-chr9:94805070..94807869,3	K562	blood:
2	chr9:94799349..94801127-chr9:94801709..94804100,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000090054	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1358499	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1358500	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2001676	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3920441	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs41279063	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4559303	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55740103	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56160856	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58525487	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7018784	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7021155	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7040090	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7854213	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7866376	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7944	1.00[AFR][1000 genomes];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	nsv949008	chr9:94500776-95182133	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv1050845	chr9:94687959-95312406	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv1046733	chr9:94690622-95138564	Genic enhancers Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv831653	chr9:94692454-94867542	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv530947	chr9:94697309-95093377	Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
6	nsv982320	chr9:94799706-94821700	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:94791200-94804400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr9:94791400-94805400	Weak transcription	Psoas Muscle	Psoas
3	chr9:94792200-94804000	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr9:94792800-94804400	Strong transcription	Primary T helper cells PMA-I stimulated	--
5	chr9:94793000-94803200	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr9:94793200-94804200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr9:94793600-94804200	Strong transcription	Primary T helper cells fromperipheralblood	blood
8	chr9:94793600-94805400	Weak transcription	Small Intestine	intestine
9	chr9:94794200-94804600	Weak transcription	Fetal Heart	heart
10	chr9:94794600-94803800	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr9:94794800-94803200	Weak transcription	Fetal Kidney	kidney
12	chr9:94795200-94804000	Strong transcription	Primary T cells fromperipheralblood	blood
13	chr9:94795600-94805400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr9:94796800-94804400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr9:94797000-94805400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr9:94797200-94804200	Weak transcription	Colonic Mucosa	Colon
17	chr9:94797400-94803200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr9:94798000-94805600	Weak transcription	Stomach Mucosa	stomach
19	chr9:94798200-94804200	Weak transcription	NH-A	brain
20	chr9:94798400-94804200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr9:94798800-94803200	Weak transcription	NHDF-Ad	bronchial
22	chr9:94799000-94803800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr9:94799200-94804200	Weak transcription	Fetal Brain Male	brain
24	chr9:94799400-94803400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr9:94799800-94803200	Weak transcription	HSMM	muscle
26	chr9:94799800-94803200	Weak transcription	K562	blood
27	chr9:94800000-94803600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr9:94800400-94803200	Weak transcription	A549	lung
29	chr9:94800400-94803600	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr9:94800400-94803800	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr9:94800400-94803800	Weak transcription	Rectal Smooth Muscle	rectum
32	chr9:94800400-94804200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr9:94800400-94805400	Weak transcription	Hela-S3	cervix
34	chr9:94800800-94803200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr9:94800800-94803400	Weak transcription	Brain Substantia Nigra	brain
36	chr9:94801000-94803200	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr9:94801000-94803200	Weak transcription	Fetal Brain Female	brain
38	chr9:94801000-94803400	Weak transcription	Adipose Nuclei	Adipose
39	chr9:94801000-94803400	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr9:94801000-94803600	Weak transcription	Fetal Intestine Large	intestine
41	chr9:94801000-94803800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr9:94801000-94803800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr9:94801000-94803800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr9:94801000-94803800	Weak transcription	Brain Anterior Caudate	brain
45	chr9:94801000-94803800	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr9:94801000-94803800	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr9:94801000-94803800	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr9:94801000-94803800	Weak transcription	Thymus	Thymus
49	chr9:94801000-94803800	Weak transcription	NHLF	lung
50	chr9:94801000-94804000	Weak transcription	Placenta Amnion	Placenta Amnion

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