Variant report

Variant	rs9478948
Chromosome Location	chr6:150165616-150165617
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:150159974..150162858-chr6:150163125..150167505,4	K562	blood:
2	chr6:150164239..150168667-chr6:150168889..150173398,4	K562	blood:
3	chr6:150159974..150162736-chr6:150163125..150166318,3	K562	blood:
4	chr6:150154401..150157118-chr6:150163961..150165886,2	MCF-7	breast:
5	chr6:150164423..150166949-chr6:150167300..150169014,3	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs28379207	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28622537	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9478144	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9478147	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9478148	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9478150	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9478156	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9478822	1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9478895	1.00[AMR][1000 genomes]
rs9478945	1.00[AMR][1000 genomes]
rs9479409	1.00[YRI][hapmap]
rs9480114	1.00[YRI][hapmap]
rs9480479	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9505977	0.86[AFR][1000 genomes]
rs9505978	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9505988	1.00[YRI][hapmap]
rs9505990	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	nsv886762	chr6:149866452-150174507	Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv886763	chr6:150091219-150174507	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv886764	chr6:150114745-150393683	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	nsv517022	chr6:150145001-150426272	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:150073800-150182400	Weak transcription	Fetal Brain Male	brain
2	chr6:150094400-150167200	Weak transcription	Rectal Smooth Muscle	rectum
3	chr6:150105800-150176400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr6:150112600-150167200	Weak transcription	Colon Smooth Muscle	Colon
5	chr6:150141400-150167200	Weak transcription	Right Atrium	heart
6	chr6:150146200-150167000	Weak transcription	Psoas Muscle	Psoas
7	chr6:150150600-150166400	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr6:150152800-150172600	Weak transcription	Aorta	Aorta
9	chr6:150153000-150167000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr6:150153000-150167800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr6:150155800-150182600	Weak transcription	Dnd41	blood
12	chr6:150156400-150168400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr6:150157600-150167000	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr6:150158600-150167200	Weak transcription	Adipose Nuclei	Adipose
15	chr6:150158800-150176400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr6:150159200-150172800	Weak transcription	Spleen	Spleen
17	chr6:150161400-150168200	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr6:150162000-150167400	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr6:150162200-150166800	Strong transcription	Brain Anterior Caudate	brain
20	chr6:150162200-150167000	Weak transcription	HSMM	muscle
21	chr6:150162200-150167400	Weak transcription	HUVEC	blood vessel
22	chr6:150162200-150168400	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr6:150162200-150175800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr6:150162400-150166000	Weak transcription	Brain Angular Gyrus	brain
25	chr6:150162400-150167000	Weak transcription	Fetal Heart	heart
26	chr6:150162400-150167200	Weak transcription	Stomach Mucosa	stomach
27	chr6:150162600-150167000	Weak transcription	Left Ventricle	heart
28	chr6:150162600-150168200	Weak transcription	Brain Substantia Nigra	brain
29	chr6:150162600-150168200	Weak transcription	Fetal Intestine Large	intestine
30	chr6:150162600-150172000	Weak transcription	Liver	Liver
31	chr6:150162600-150177200	Weak transcription	Fetal Lung	lung
32	chr6:150163400-150169200	Enhancers	Placenta	Placenta
33	chr6:150163600-150166200	Strong transcription	Fetal Intestine Small	intestine
34	chr6:150163600-150175800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr6:150164000-150167200	Weak transcription	Brain Hippocampus Middle	brain
36	chr6:150164200-150166600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr6:150164200-150166800	Weak transcription	Hela-S3	cervix
38	chr6:150164200-150167000	Weak transcription	Fetal Muscle Trunk	muscle
39	chr6:150164200-150167200	Weak transcription	Brain Cingulate Gyrus	brain
40	chr6:150164200-150167200	Weak transcription	Duodenum Mucosa	Duodenum
41	chr6:150164200-150168200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr6:150164200-150171800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr6:150164400-150166000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr6:150164400-150166200	Enhancers	A549	lung
45	chr6:150164400-150167000	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr6:150164400-150167200	Weak transcription	Gastric	stomach
47	chr6:150164400-150167200	Weak transcription	Lung	lung
48	chr6:150164400-150167200	Weak transcription	Right Ventricle	heart
49	chr6:150164400-150167400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr6:150164400-150167400	Genic enhancers	NHLF	lung

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