Variant report

Variant	rs9381324
Chromosome Location	chr6:44407897-44407898
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	chr6:44402998..44404546-chr6:44407688..44409189,2	K562	blood:
2	chr6:44405048..44409188-chr6:44409781..44413783,5	K562	blood:

Variant related genes	Relation type
ENSG00000266619	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11571962	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12527053	1.00[CEU][hapmap];0.84[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12527984	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12529980	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1999371	0.85[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2273667	0.81[ASW][hapmap];0.97[LWK][hapmap];0.84[AFR][1000 genomes]
rs2297334	0.97[LWK][hapmap]
rs4714787	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6934058	0.87[LWK][hapmap]
rs72866289	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72867812	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72867824	0.84[AMR][1000 genomes]
rs9369482	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs9369488	0.86[AFR][1000 genomes]
rs9395012	0.86[LWK][hapmap];0.84[YRI][hapmap]
rs9395016	0.84[AFR][1000 genomes]
rs9395017	0.81[ASW][hapmap];0.97[LWK][hapmap];0.86[AFR][1000 genomes]
rs9472275	0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019145	chr6:44313576-44421440	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv885858	chr6:44385441-44421240	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv885859	chr6:44385441-44422466	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	nsv517370	chr6:44385441-44422689	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	esv1850024	chr6:44388505-44422689	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:44376800-44424400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr6:44386600-44409200	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr6:44386800-44408800	Strong transcription	Primary B cells from peripheral blood	blood
4	chr6:44387000-44408000	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr6:44387600-44408600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr6:44388400-44424400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr6:44388800-44409800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr6:44390200-44409600	Weak transcription	Spleen	Spleen
9	chr6:44390200-44420200	Weak transcription	Brain Cingulate Gyrus	brain
10	chr6:44391800-44409800	Weak transcription	Aorta	Aorta
11	chr6:44391800-44412600	Weak transcription	Brain Hippocampus Middle	brain
12	chr6:44392800-44411800	Weak transcription	Esophagus	oesophagus
13	chr6:44393600-44411600	Weak transcription	Right Ventricle	heart
14	chr6:44394800-44410000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr6:44395400-44408800	Weak transcription	HUVEC	blood vessel
16	chr6:44396600-44432800	Weak transcription	Fetal Kidney	kidney
17	chr6:44397200-44409800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr6:44397400-44409800	Weak transcription	Fetal Brain Male	brain
19	chr6:44397800-44408600	Weak transcription	Brain Germinal Matrix	brain
20	chr6:44398200-44413400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr6:44398200-44413400	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr6:44398400-44409800	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr6:44398400-44410000	Weak transcription	Brain Anterior Caudate	brain
24	chr6:44398400-44411800	Weak transcription	Lung	lung
25	chr6:44398400-44413600	Weak transcription	Brain Angular Gyrus	brain
26	chr6:44398400-44415400	Weak transcription	Small Intestine	intestine
27	chr6:44398600-44410000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr6:44398600-44411600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr6:44398600-44419600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr6:44398800-44408400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr6:44398800-44408800	Weak transcription	Brain Substantia Nigra	brain
32	chr6:44398800-44409200	Weak transcription	Fetal Muscle Trunk	muscle
33	chr6:44400000-44408200	Strong transcription	Primary T cells from cord blood	blood
34	chr6:44400600-44408600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr6:44400600-44413200	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr6:44400800-44409600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr6:44401000-44408600	Weak transcription	Fetal Lung	lung
38	chr6:44401200-44409600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr6:44401600-44409000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr6:44401600-44412800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr6:44402000-44409000	Weak transcription	Duodenum Mucosa	Duodenum
42	chr6:44402000-44413400	Weak transcription	Rectal Smooth Muscle	rectum
43	chr6:44402200-44408400	Weak transcription	Primary neutrophils fromperipheralblood	blood
44	chr6:44402200-44408600	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr6:44402200-44413200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr6:44402200-44414400	Weak transcription	NH-A	brain
47	chr6:44402400-44413200	Weak transcription	Stomach Smooth Muscle	stomach
48	chr6:44402600-44408800	Weak transcription	A549	lung
49	chr6:44402600-44409200	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr6:44402600-44410000	Weak transcription	HUES64 Cell Line	embryonic stem cell

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