Variant report

Variant	rs9496999
Chromosome Location	chr6:144862754-144862755
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:144860540..144863082-chr6:144868271..144870923,2	K562	blood:
2	chr6:144862444..144865756-chr6:144868130..144871153,3	K562	blood:
3	chr6:144860787..144863095-chr6:144885052..144886553,2	K562	blood:
4	chr6:144854161..144860088-chr6:144861624..144865343,8	K562	blood:
5	chr6:144861308..144862983-chr6:144863413..144866263,3	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10080939	0.92[YRI][hapmap]
rs28493305	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4428521	0.91[AFR][1000 genomes]
rs6923086	1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7742257	1.00[YRI][hapmap]
rs7758990	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9321982	0.80[AFR][1000 genomes]
rs9484893	1.00[YRI][hapmap]
rs9496997	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9497000	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9497001	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9497002	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9497007	0.95[AFR][1000 genomes]
rs9497017	1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs9497018	1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs9497020	1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs9497026	0.92[YRI][hapmap]
rs9497035	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1031253	chr6:144599055-144883013	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv538461	chr6:144599055-144883013	Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv1015228	chr6:144780458-144989321	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv538462	chr6:144780458-144989321	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 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	chr6:144803400-144869800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr6:144807400-144904000	Weak transcription	Brain Substantia Nigra	brain
3	chr6:144812400-144881000	Weak transcription	Stomach Mucosa	stomach
4	chr6:144812600-144869800	Weak transcription	Colon Smooth Muscle	Colon
5	chr6:144815200-144881000	Weak transcription	NHEK	skin
6	chr6:144816600-144881400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr6:144829800-144863800	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr6:144831400-144879000	Strong transcription	Primary B cells from cord blood	blood
9	chr6:144833800-144868200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr6:144837200-144880800	Weak transcription	Brain Angular Gyrus	brain
11	chr6:144844400-144870000	Weak transcription	Brain Hippocampus Middle	brain
12	chr6:144850000-144864200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr6:144850000-144864200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr6:144850200-144877400	Weak transcription	HMEC	breast
15	chr6:144850400-144864000	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr6:144850400-144864200	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr6:144850400-144865600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr6:144850400-144866000	Weak transcription	Hela-S3	cervix
19	chr6:144850400-144903200	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr6:144850400-144903200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr6:144850400-144904200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr6:144850600-144863400	Weak transcription	Fetal Intestine Small	intestine
23	chr6:144850600-144863600	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr6:144850600-144865800	Weak transcription	NHLF	lung
25	chr6:144850600-144870800	Weak transcription	Right Ventricle	heart
26	chr6:144850600-144881600	Weak transcription	Brain Anterior Caudate	brain
27	chr6:144850800-144863600	Weak transcription	Colonic Mucosa	Colon
28	chr6:144852400-144870600	Weak transcription	Aorta	Aorta
29	chr6:144853600-144863400	Weak transcription	Lung	lung
30	chr6:144853600-144896400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr6:144853800-144863600	Weak transcription	Fetal Stomach	stomach
32	chr6:144854000-144863400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr6:144854400-144862800	Weak transcription	Gastric	stomach
34	chr6:144854400-144864200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr6:144854400-144873400	Weak transcription	Pancreas	Pancrea
36	chr6:144854600-144870000	Weak transcription	NH-A	brain
37	chr6:144854600-144881200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr6:144855600-144863600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr6:144856000-144875800	Weak transcription	Fetal Heart	heart
40	chr6:144857200-144904000	Weak transcription	Psoas Muscle	Psoas
41	chr6:144858200-144867400	Strong transcription	Liver	Liver
42	chr6:144858200-144887800	Strong transcription	Primary B cells from peripheral blood	blood
43	chr6:144858600-144866200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr6:144858600-144866800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr6:144858600-144879200	Strong transcription	Primary T cells fromperipheralblood	blood
46	chr6:144858600-144879400	Strong transcription	HepG2	liver
47	chr6:144858800-144864200	Strong transcription	Primary monocytes fromperipheralblood	blood
48	chr6:144858800-144864200	Strong transcription	Monocytes-CD14+_RO01746	blood
49	chr6:144858800-144868200	Strong transcription	Primary T helper naive cells from peripheral blood	blood
50	chr6:144858800-144868600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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