Variant report

Variant	rs9323652
Chromosome Location	chr14:78288709-78288710
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr14:78288630-78289033	K562	blood:	n/a	n/a
2	CTCF	chr14:78288695-78288923	K562	blood:	n/a	n/a
3	CTCF	chr14:78288640-78288790	HepG2	liver:	n/a	n/a
4	RCOR1	chr14:78288703-78289520	K562	blood:	n/a	n/a
5	CTCF	chr14:78288671-78289188	K562	blood:	n/a	n/a
6	ELF1	chr14:78288686-78289265	K562	blood:	n/a	chr14:78289131-78289142

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:78284551..78287243-chr14:78287692..78289277,2	K562	blood:

Variant related genes	Relation type
ENSG00000199440	TF binding region

Extended variants
information (count: 32 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10139828	0.88[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10149767	0.94[ASW][hapmap];0.94[CEU][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10150446	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10150706	0.88[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11621593	0.82[JPT][hapmap]
rs11848126	0.88[ASN][1000 genomes]
rs11848358	0.88[ASN][1000 genomes]
rs17106478	0.84[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs17106499	0.88[CEU][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs17106558	0.84[CHD][hapmap];1.00[JPT][hapmap]
rs1862125	0.88[ASN][1000 genomes]
rs2111829	0.81[CHD][hapmap];0.82[JPT][hapmap]
rs28489182	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28613643	0.88[ASN][1000 genomes]
rs55898434	0.88[ASN][1000 genomes]
rs55956517	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55967811	1.00[ASN][1000 genomes]
rs55976930	1.00[ASN][1000 genomes]
rs57859162	0.88[ASN][1000 genomes]
rs61053946	1.00[ASN][1000 genomes]
rs6493	0.81[CHD][hapmap];0.82[JPT][hapmap]
rs7153025	0.83[CEU][hapmap];1.00[JPT][hapmap]
rs7160485	0.84[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs72688844	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8009704	0.88[ASN][1000 genomes]
rs8015796	0.82[JPT][hapmap]
rs8018233	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8018945	0.88[ASN][1000 genomes]
rs8022914	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9323654	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][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]
rs9972189	0.88[CEU][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];1.00[ASN][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	nsv1043788	chr14:78178490-78381190	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs9323652	ADCK1	cis	cerebellum	SCAN
rs9323652	NRXN3	cis	cerebellum	SCAN

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:78267200-78288800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr14:78267200-78304200	Weak transcription	HSMMtube	muscle
3	chr14:78267200-78310800	Weak transcription	Esophagus	oesophagus
4	chr14:78270800-78288800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr14:78274800-78316600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr14:78283000-78293400	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr14:78283200-78301800	Weak transcription	Small Intestine	intestine
8	chr14:78283400-78289200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr14:78283600-78311000	Weak transcription	Hela-S3	cervix
10	chr14:78283800-78288800	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr14:78283800-78288800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr14:78283800-78297200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr14:78284000-78289200	Weak transcription	NHEK	skin
14	chr14:78284000-78292200	Weak transcription	Stomach Mucosa	stomach
15	chr14:78284000-78299400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr14:78284200-78289000	Weak transcription	Primary hematopoietic stem cells	blood
17	chr14:78284200-78298000	Weak transcription	HepG2	liver
18	chr14:78284200-78309400	Weak transcription	Brain Germinal Matrix	brain
19	chr14:78284200-78312600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr14:78284600-78289400	Strong transcription	Skeletal Muscle Male	skeletal muscle
21	chr14:78284800-78288800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr14:78284800-78289600	Strong transcription	Adipose Nuclei	Adipose
23	chr14:78284800-78289800	Strong transcription	Fetal Muscle Leg	muscle
24	chr14:78284800-78291600	Weak transcription	Fetal Heart	heart
25	chr14:78284800-78300800	Weak transcription	Fetal Brain Male	brain
26	chr14:78284800-78305200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr14:78285000-78289600	Strong transcription	Brain Hippocampus Middle	brain
28	chr14:78285200-78289600	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr14:78285200-78290200	Strong transcription	Brain Inferior Temporal Lobe	brain
30	chr14:78285200-78293200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr14:78285400-78289200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr14:78285400-78289400	Strong transcription	HUES48 Cell Line	embryonic stem cell
33	chr14:78285400-78289400	Strong transcription	Sigmoid Colon	Sigmoid Colon
34	chr14:78285400-78289600	Strong transcription	Liver	Liver
35	chr14:78285400-78289600	Strong transcription	Fetal Muscle Trunk	muscle
36	chr14:78285400-78289600	Strong transcription	Rectal Mucosa Donor 31	rectum
37	chr14:78285400-78289800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr14:78285800-78305800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr14:78286200-78289000	Weak transcription	Fetal Kidney	kidney
40	chr14:78286200-78289000	Weak transcription	Psoas Muscle	Psoas
41	chr14:78286200-78299000	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr14:78286200-78301800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr14:78286200-78303000	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr14:78286400-78288800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr14:78286400-78288800	Weak transcription	Dnd41	blood
46	chr14:78286400-78293400	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr14:78286400-78294000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr14:78286400-78299200	Weak transcription	Rectal Smooth Muscle	rectum
49	chr14:78286400-78300400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr14:78286400-78303000	Weak transcription	Pancreatic Islets	Pancreatic Islet

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