Variant report

Variant	rs206966
Chromosome Location	chr12:120832146-120832147
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:120828288..120830518-chr12:120831065..120833255,2	K562	blood:
2	chr12:120831282..120833716-chr12:120835765..120838014,2	MCF-7	breast:
3	chr12:120794931..120796689-chr12:120831287..120834141,2	MCF-7	breast:
4	chr12:120830718..120832773-chr12:120838679..120841584,3	MCF-7	breast:
5	chr12:120804728..120807902-chr12:120830622..120833936,3	MCF-7	breast:
6	chr12:120829018..120830567-chr12:120831516..120833255,2	K562	blood:

Variant related genes	Relation type
ENSG00000239881	Chromatin interaction
ENSG00000135097	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11065091	0.83[EUR][1000 genomes]
rs11065094	0.87[EUR][1000 genomes]
rs1179387	0.85[CEU][hapmap]
rs1557769	0.83[EUR][1000 genomes]
rs206951	0.82[EUR][1000 genomes]
rs2522129	0.85[CEU][hapmap]
rs2522138	0.83[CEU][hapmap]
rs3742038	0.90[ASW][hapmap];1.00[CEU][hapmap];0.82[CHD][hapmap];0.89[GIH][hapmap];0.80[TSI][hapmap];0.83[YRI][hapmap];0.86[EUR][1000 genomes]
rs5637	0.85[CEU][hapmap]
rs67706074	0.83[EUR][1000 genomes]
rs73416934	0.83[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899555	chr12:120519124-120840522	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	499 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs206966	HPD	cis	parietal	SCAN
rs206966	COQ5	cis	cerebellum	SCAN
rs206966	UNC119B	cis	cerebellum	SCAN

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120827000-120832200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr12:120827200-120875200	Weak transcription	Right Atrium	heart
3	chr12:120827600-120832200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr12:120827600-120832200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr12:120827600-120832600	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr12:120827600-120835400	Weak transcription	Fetal Brain Female	brain
7	chr12:120828400-120832200	Weak transcription	Fetal Brain Male	brain
8	chr12:120829200-120836200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:120831000-120837800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr12:120831200-120833000	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr12:120831200-120833000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr12:120831200-120833400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr12:120831400-120833200	Enhancers	H1 Cell Line	embryonic stem cell
14	chr12:120831600-120832200	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr12:120831600-120832200	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr12:120831600-120832200	Enhancers	Brain Germinal Matrix	brain
17	chr12:120831600-120833000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr12:120831600-120833000	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr12:120831600-120833200	Enhancers	Stomach Mucosa	stomach
20	chr12:120831800-120832400	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr12:120831800-120833000	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr12:120832000-120832200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr12:120832000-120832200	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr12:120832000-120832200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr12:120832000-120832200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr12:120832000-120832200	Enhancers	Rectal Mucosa Donor 29	rectum
27	chr12:120832000-120832200	Enhancers	Rectal Mucosa Donor 31	rectum
28	chr12:120832000-120832400	Enhancers	Placenta	Placenta
29	chr12:120832000-120832600	Enhancers	Fetal Intestine Large	intestine
30	chr12:120832000-120835600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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