Variant report

Variant	rs57391609
Chromosome Location	chr9:86316383-86316384
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:86313399..86317163-chr9:86318289..86320003,3	K562	blood:
2	chr9:86308775..86310680-chr9:86314614..86316795,2	MCF-7	breast:
3	chr9:86236927..86238886-chr9:86316132..86318961,2	MCF-7	breast:
4	chr9:86282376..86284181-chr9:86315940..86318221,2	K562	blood:

Variant related genes	Relation type
ENSG00000148057	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs12115755	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17086576	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57071190	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57338929	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59851611	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60734573	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61218358	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61567557	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7026362	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7030634	1.00[AMR][1000 genomes]
rs7031204	1.00[AMR][1000 genomes]
rs7046251	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7851817	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7857256	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7858992	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7866346	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	nsv893512	chr9:86022215-86323309	Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv1044639	chr9:86252505-86412041	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv893513	chr9:86298632-86433459	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:86289000-86321800	Weak transcription	Esophagus	oesophagus
2	chr9:86293600-86317000	Weak transcription	NHLF	lung
3	chr9:86294000-86321800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr9:86294200-86320000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr9:86296000-86320800	Weak transcription	Fetal Brain Female	brain
6	chr9:86296200-86316800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr9:86297000-86320000	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr9:86297600-86319800	Weak transcription	Fetal Muscle Leg	muscle
9	chr9:86297600-86321200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr9:86298000-86316600	Weak transcription	Thymus	Thymus
11	chr9:86298000-86316800	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr9:86298000-86320400	Weak transcription	Fetal Intestine Large	intestine
13	chr9:86298200-86317000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr9:86298200-86317600	Weak transcription	Dnd41	blood
15	chr9:86298600-86320400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr9:86298800-86320800	Weak transcription	Fetal Thymus	thymus
17	chr9:86299600-86319400	Weak transcription	Fetal Stomach	stomach
18	chr9:86299600-86320000	Weak transcription	Fetal Intestine Small	intestine
19	chr9:86300400-86320400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr9:86300600-86320400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr9:86300800-86316600	Weak transcription	NHEK	skin
22	chr9:86301000-86316600	Weak transcription	Hela-S3	cervix
23	chr9:86301000-86317000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr9:86301000-86320800	Enhancers	Primary T helper cells fromperipheralblood	blood
25	chr9:86304400-86320800	Weak transcription	Brain Anterior Caudate	brain
26	chr9:86307600-86320400	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr9:86308800-86316600	Weak transcription	K562	blood
28	chr9:86310200-86317200	Enhancers	Primary T cells fromperipheralblood	blood
29	chr9:86310400-86320600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr9:86311200-86320800	Weak transcription	Fetal Lung	lung
31	chr9:86311600-86320000	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr9:86311800-86317800	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr9:86311800-86321000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr9:86312000-86319400	Weak transcription	Primary B cells from cord blood	blood
35	chr9:86312800-86320800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
36	chr9:86313000-86316800	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr9:86313000-86317200	Enhancers	Primary B cells from peripheral blood	blood
38	chr9:86313000-86319400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
39	chr9:86313200-86318000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
40	chr9:86313200-86320800	Enhancers	Primary T helper naive cells from peripheral blood	blood
41	chr9:86313400-86319800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr9:86313600-86316400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr9:86313600-86321000	Enhancers	Primary T killer memory cells from peripheral blood	blood
44	chr9:86313800-86317000	Enhancers	HUVEC	blood vessel
45	chr9:86313800-86319400	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr9:86314000-86316800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr9:86314200-86317000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
48	chr9:86314200-86317200	Enhancers	Liver	Liver
49	chr9:86314400-86316400	Enhancers	Sigmoid Colon	Sigmoid Colon
50	chr9:86314400-86319800	Enhancers	Primary T cells from cord blood	blood

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