Variant report

Variant	rs9471075
Chromosome Location	chr6:39307032-39307033
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:39304974..39307923-chr6:39309564..39312341,2	K562	blood:
2	chr6:39306604..39308297-chr6:39309818..39311499,2	K562	blood:
3	chr6:39306382..39308708-chr6:39313330..39315820,2	K562	blood:
4	chr6:39305987..39307882-chr6:39314320..39317266,2	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs3734621	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56894040	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59865576	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6904583	1.00[ASN][1000 genomes]
rs7774977	1.00[CEU][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs913473	1.00[GIH][hapmap]
rs9462534	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9462541	1.00[GIH][hapmap]
rs970392	1.00[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	nsv830644	chr6:39116530-39325980	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv830645	chr6:39227601-39408310	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv533806	chr6:39270073-39397337	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Smooth-surface caries	24556642	GWAS catalog

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:39285600-39307800	Weak transcription	Esophagus	oesophagus
2	chr6:39298800-39307800	Weak transcription	Brain Anterior Caudate	brain
3	chr6:39298800-39310600	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr6:39300600-39307400	Weak transcription	Brain Substantia Nigra	brain
5	chr6:39301600-39307200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr6:39302000-39307600	Weak transcription	Right Atrium	heart
7	chr6:39302200-39307400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr6:39302600-39311400	Enhancers	Primary hematopoietic stem cells	blood
9	chr6:39303800-39307800	Weak transcription	Aorta	Aorta
10	chr6:39304200-39309000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr6:39304400-39307400	Weak transcription	Brain Hippocampus Middle	brain
12	chr6:39304400-39308200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr6:39304400-39310600	Weak transcription	GM12878-XiMat	blood
14	chr6:39304600-39307200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr6:39304600-39307200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr6:39304600-39307800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr6:39304600-39308800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr6:39304600-39311000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr6:39304800-39307200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr6:39304800-39311800	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr6:39305200-39309400	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr6:39305400-39308400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
23	chr6:39305400-39308400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr6:39305400-39309200	Enhancers	Fetal Thymus	thymus
25	chr6:39305600-39307600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr6:39305800-39310200	Enhancers	Pancreatic Islets	Pancreatic Islet
27	chr6:39305800-39313000	Enhancers	Fetal Lung	lung
28	chr6:39306000-39308000	Enhancers	Spleen	Spleen
29	chr6:39306200-39307200	Weak transcription	Duodenum Mucosa	Duodenum
30	chr6:39306200-39307400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr6:39306400-39307400	Enhancers	Fetal Intestine Large	intestine
32	chr6:39306400-39307600	Enhancers	Fetal Intestine Small	intestine
33	chr6:39306400-39307600	Enhancers	Gastric	stomach
34	chr6:39306400-39308400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr6:39306400-39309200	Enhancers	Lung	lung
36	chr6:39306400-39309200	Enhancers	Pancreas	Pancrea
37	chr6:39306400-39311600	Enhancers	Primary B cells from cord blood	blood
38	chr6:39306600-39307600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr6:39306600-39313800	Weak transcription	HSMM	muscle
40	chr6:39306800-39308000	Enhancers	HMEC	breast
41	chr6:39306800-39309400	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr6:39307000-39307400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
43	chr6:39307000-39308000	Enhancers	H1 Cell Line	embryonic stem cell
44	chr6:39307000-39308000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr6:39307000-39308000	Enhancers	Left Ventricle	heart
46	chr6:39307000-39308200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr6:39307000-39308800	Enhancers	Placenta	Placenta
48	chr6:39307000-39313600	Enhancers	Fetal Stomach	stomach

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