Variant report

Variant	rs9369450
Chromosome Location	chr6:44072217-44072218
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:44067796..44070621-chr6:44070838..44073227,2	K562	blood:
2	chr6:44069971..44072843-chr6:44208426..44210193,2	MCF-7	breast:
3	chr6:44067430..44069915-chr6:44071632..44073899,2	MCF-7	breast:
4	chr6:44068135..44073086-chr6:44213618..44216207,4	K562	blood:
5	chr6:44064908..44068117-chr6:44068233..44072672,4	MCF-7	breast:
6	chr6:44068030..44072338-chr6:44074661..44078042,4	K562	blood:
7	chr6:44064491..44067269-chr6:44068919..44074061,5	MCF-7	breast:
8	chr6:44071581..44074367-chr6:44093674..44095187,2	K562	blood:
9	chr6:44069394..44072990-chr6:44213138..44216186,3	K562	blood:
10	chr6:44069757..44072959-chr6:44076120..44079069,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000137216	Chromatin interaction
ENSG00000096384	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10948121	1.00[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs12191873	1.00[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs12199128	0.87[EUR][1000 genomes]
rs12202501	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12206251	0.87[EUR][1000 genomes]
rs12206795	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2064639	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2064640	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2092870	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2236061	1.00[AFR][1000 genomes]
rs3734696	0.97[EUR][1000 genomes]
rs3734697	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4628095	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4711764	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4711766	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4714738	1.00[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs4714750	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4714754	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4714759	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4714761	0.90[ASN][1000 genomes]
rs4714762	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62401766	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62403189	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9349270	1.00[AFR][1000 genomes]
rs9349271	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9349272	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9349275	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9357432	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9369448	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9369449	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9369453	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9369454	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9369456	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9369457	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9369459	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9381287	1.00[AFR][1000 genomes]
rs9381294	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9394984	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][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	nsv931987	chr6:43624625-44350167	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	201 gene(s)	inside rSNPs	diseases
2	nsv462935	chr6:44046143-44117607	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv603002	chr6:44046143-44117607	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 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	chr6:44055800-44076000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr6:44055800-44078800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr6:44056200-44078400	Weak transcription	Fetal Kidney	kidney
4	chr6:44058800-44093600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr6:44059600-44079000	Weak transcription	Small Intestine	intestine
6	chr6:44063200-44076000	Weak transcription	Colonic Mucosa	Colon
7	chr6:44064600-44077600	Weak transcription	Stomach Mucosa	stomach
8	chr6:44065200-44073600	Weak transcription	Pancreas	Pancrea
9	chr6:44065400-44077200	Weak transcription	Rectal Smooth Muscle	rectum
10	chr6:44066000-44081400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr6:44066000-44091000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr6:44066400-44082200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr6:44066800-44079400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr6:44067000-44072800	Strong transcription	Fetal Stomach	stomach
15	chr6:44067000-44077200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr6:44067000-44084200	Strong transcription	Brain Germinal Matrix	brain
17	chr6:44067000-44084400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr6:44067200-44072600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr6:44067200-44085000	Strong transcription	Dnd41	blood
20	chr6:44067600-44073600	Strong transcription	NHLF	lung
21	chr6:44067600-44079600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr6:44068400-44075800	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr6:44068600-44077400	Strong transcription	Fetal Intestine Small	intestine
24	chr6:44069000-44078600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr6:44069600-44072600	Genic enhancers	Lung	lung
26	chr6:44069800-44072600	Weak transcription	Fetal Heart	heart
27	chr6:44070000-44083200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr6:44070400-44084000	Strong transcription	HUES6 Cell Line	embryonic stem cell
29	chr6:44070600-44073000	Strong transcription	Primary T killer memory cells from peripheral blood	blood
30	chr6:44070600-44084000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr6:44070800-44079600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr6:44070800-44084200	Strong transcription	Cortex derived primary cultured neurospheres	brain
33	chr6:44071000-44072800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr6:44071000-44072800	Strong transcription	Thymus	Thymus
35	chr6:44071000-44075200	Genic enhancers	Placenta	Placenta
36	chr6:44071000-44081600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr6:44071000-44084600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
38	chr6:44071200-44072400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr6:44071200-44072400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr6:44071200-44072400	Strong transcription	Primary hematopoietic stem cells	blood
41	chr6:44071200-44072400	Strong transcription	NHDF-Ad	bronchial
42	chr6:44071200-44072600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
43	chr6:44071200-44072600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
44	chr6:44071200-44072600	Genic enhancers	Adipose Nuclei	Adipose
45	chr6:44071200-44072600	Genic enhancers	Brain Hippocampus Middle	brain
46	chr6:44071200-44072600	Strong transcription	Fetal Brain Male	brain
47	chr6:44071200-44072600	Strong transcription	Fetal Lung	lung
48	chr6:44071200-44072800	Strong transcription	Brain Anterior Caudate	brain
49	chr6:44071200-44072800	Strong transcription	Osteobl	bone
50	chr6:44071200-44073000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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