Variant report

Variant	rs194772
Chromosome Location	chr14:69201003-69201004
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:69199814..69201637-chr14:69202676..69204761,2	K562	blood:

Variant related genes	Relation type
ENSG00000207089	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12147462	0.91[ASN][1000 genomes]
rs1535344	1.00[CHB][hapmap];0.89[CHD][hapmap];0.95[JPT][hapmap];0.95[LWK][hapmap];0.83[MKK][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs17106221	0.91[ASN][1000 genomes]
rs17106229	1.00[CHB][hapmap];0.89[CHD][hapmap];0.95[JPT][hapmap];0.87[LWK][hapmap];0.89[YRI][hapmap];0.91[ASN][1000 genomes]
rs7144216	0.88[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs7157514	0.95[CHB][hapmap];0.89[CHD][hapmap];0.95[JPT][hapmap];0.83[LWK][hapmap];0.83[MKK][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.91[ASN][1000 genomes]

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs194772	SNORD56B	cis	parietal	SCAN
rs194772	CHURC1	cis	parietal	SCAN
rs194772	MAX	cis	parietal	SCAN
rs194772	MAP3K9	cis	cerebellum	SCAN
rs194772	C2orf28	trans	parietal	SCAN

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69182000-69202600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr14:69195200-69201600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr14:69195600-69202800	Weak transcription	Fetal Kidney	kidney
4	chr14:69196400-69201600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr14:69196400-69203600	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr14:69196600-69203200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr14:69197400-69201200	Enhancers	Brain Anterior Caudate	brain
8	chr14:69197800-69202200	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr14:69198200-69203000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr14:69198200-69203000	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr14:69198400-69201200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr14:69198400-69202400	Weak transcription	Ovary	ovary
13	chr14:69198400-69203400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr14:69198400-69214000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr14:69198600-69201200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr14:69198600-69202400	Weak transcription	HSMMtube	muscle
17	chr14:69198600-69203000	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr14:69198800-69202200	Enhancers	Primary hematopoietic stem cells	blood
19	chr14:69198800-69202800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr14:69198800-69203200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr14:69199000-69201800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
22	chr14:69199000-69202800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
23	chr14:69199000-69203000	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr14:69199000-69203600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr14:69199200-69202800	Weak transcription	HepG2	liver
26	chr14:69199200-69204400	Enhancers	Brain Germinal Matrix	brain
27	chr14:69199400-69202000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr14:69199400-69203800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
29	chr14:69199600-69202000	Enhancers	Primary T cells from cord blood	blood
30	chr14:69199600-69206800	Enhancers	Fetal Muscle Leg	muscle
31	chr14:69199800-69201200	Enhancers	Lung	lung
32	chr14:69199800-69201400	Enhancers	Fetal Intestine Large	intestine
33	chr14:69199800-69202000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr14:69199800-69202200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
35	chr14:69199800-69202600	Enhancers	Primary T helper cells PMA-I stimulated	--
36	chr14:69199800-69202600	Enhancers	Primary T helper cells fromperipheralblood	blood
37	chr14:69199800-69202800	Enhancers	Primary T cells fromperipheralblood	blood
38	chr14:69199800-69203400	Enhancers	Primary B cells from peripheral blood	blood
39	chr14:69199800-69203800	Enhancers	Fetal Thymus	thymus
40	chr14:69199800-69204000	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr14:69200000-69201200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr14:69200000-69201200	Flanking Active TSS	Primary B cells from cord blood	blood
43	chr14:69200000-69201200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
44	chr14:69200000-69201200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
45	chr14:69200000-69201200	Enhancers	Placenta	Placenta
46	chr14:69200000-69201200	Enhancers	HMEC	breast
47	chr14:69200000-69201200	Enhancers	NHEK	skin
48	chr14:69200000-69201400	Enhancers	Brain Substantia Nigra	brain
49	chr14:69200000-69201600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr14:69200000-69202000	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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