Variant report

Variant	rs6930083
Chromosome Location	chr6:36634156-36634157
allele	A/G
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	chr6:36631478..36636279-chr6:36645838..36648638,4	K562	blood:
2	chr6:36621309..36623042-chr6:36633695..36636161,2	K562	blood:
3	chr6:36628825..36632720-chr6:36633397..36637228,8	MCF-7	breast:
4	chr6:36633980..36636533-chr6:36690989..36693316,2	MCF-7	breast:
5	chr6:36630192..36637203-chr6:36642841..36649451,13	K562	blood:
6	chr6:36608940..36611586-chr6:36633683..36636371,2	MCF-7	breast:
7	chr6:36584679..36586444-chr6:36633785..36636710,2	MCF-7	breast:
8	chr6:36633841..36635669-chr6:36637312..36639563,2	K562	blood:
9	chr6:36625867..36628028-chr6:36633354..36635356,2	MCF-7	breast:
10	chr6:36609889..36612483-chr6:36632704..36634800,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000124762	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10807170	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3176320	0.81[CEU][hapmap]
rs3176323	0.81[CEU][hapmap];0.81[EUR][1000 genomes]
rs4711456	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4711457	0.96[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.81[YRI][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4713996	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4713999	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.84[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4714001	0.92[CEU][hapmap];0.94[CHB][hapmap];0.90[JPT][hapmap];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs733590	0.93[CHB][hapmap];0.81[ASN][1000 genomes]
rs9394368	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[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	nsv1031191	chr6:36588974-36718015	Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv538201	chr6:36588974-36718015	Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv602946	chr6:36633160-36641478	Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6930083	CDKN1A	cis	multi-tissue	Pritchard

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:36628200-36636600	Enhancers	Primary B cells from peripheral blood	blood
2	chr6:36629200-36634200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr6:36629200-36634200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr6:36629200-36634600	Weak transcription	Liver	Liver
5	chr6:36629200-36634800	Weak transcription	Right Atrium	heart
6	chr6:36629200-36635000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr6:36629200-36635000	Weak transcription	Right Ventricle	heart
8	chr6:36629400-36634600	Weak transcription	Adipose Nuclei	Adipose
9	chr6:36630800-36634200	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr6:36630800-36634200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr6:36630800-36635000	Weak transcription	Fetal Heart	heart
12	chr6:36631000-36634200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr6:36631000-36634200	Weak transcription	Colonic Mucosa	Colon
14	chr6:36631000-36644000	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr6:36631200-36634200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr6:36631200-36634200	Weak transcription	Esophagus	oesophagus
17	chr6:36631400-36634200	Weak transcription	Brain Anterior Caudate	brain
18	chr6:36631400-36634200	Weak transcription	Fetal Intestine Small	intestine
19	chr6:36631400-36634200	Weak transcription	Placenta	Placenta
20	chr6:36631400-36634200	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr6:36631800-36634200	Weak transcription	K562	blood
22	chr6:36631800-36634200	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr6:36631800-36634400	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr6:36631800-36635600	Weak transcription	Fetal Thymus	thymus
25	chr6:36632000-36638800	Weak transcription	Duodenum Mucosa	Duodenum
26	chr6:36632200-36634200	Weak transcription	Fetal Kidney	kidney
27	chr6:36632800-36634200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr6:36632800-36634200	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr6:36633000-36634600	Weak transcription	Primary B cells from cord blood	blood
30	chr6:36633200-36640200	Enhancers	HepG2	liver
31	chr6:36633400-36634200	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr6:36633400-36635000	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr6:36633400-36637000	Enhancers	Ovary	ovary
34	chr6:36633600-36635600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr6:36633600-36637200	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr6:36633600-36637200	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr6:36633600-36637400	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr6:36633600-36637800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr6:36633800-36634600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr6:36633800-36635000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr6:36633800-36635000	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr6:36633800-36636000	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr6:36633800-36636600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr6:36633800-36637000	Enhancers	NHDF-Ad	bronchial
45	chr6:36633800-36637200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr6:36633800-36637800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr6:36634000-36634600	Enhancers	iPS-20b Cell Line	embryonic stem cell
48	chr6:36634000-36634600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr6:36634000-36634600	Enhancers	A549	lung
50	chr6:36634000-36634600	Enhancers	NHEK	skin

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