Variant report

Variant	rs17751412
Chromosome Location	chr14:77936969-77936970
allele	G/T
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:77887631..77890364-chr14:77936303..77938183,2	MCF-7	breast:
2	chr14:77922040..77925665-chr14:77935403..77938131,3	MCF-7	breast:
3	chr14:77935817..77939399-chr14:77941876..77944072,3	MCF-7	breast:
4	chr14:77921860..77928400-chr14:77931824..77937732,8	MCF-7	breast:
5	chr14:77935677..77938460-chr14:78087456..78089168,2	MCF-7	breast:
6	chr14:77934807..77937271-chr14:78175752..78177718,2	K562	blood:
7	chr14:77935395..77937694-chr14:77986680..77989450,2	K562	blood:
8	chr14:77936196..77939744-chr14:77940216..77943828,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000119705	Chromatin interaction
ENSG00000165555	Chromatin interaction
ENSG00000151445	Chromatin interaction
ENSG00000100591	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10149037	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11159261	1.00[JPT][hapmap]
rs11539461	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11624314	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11844300	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs12432582	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12433521	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12434419	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12435136	1.00[JPT][hapmap]
rs12435676	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12897689	1.00[ASN][1000 genomes]
rs13379432	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17105811	1.00[MEX][hapmap]
rs17751406	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.80[YRI][hapmap];0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17824034	1.00[JPT][hapmap]
rs17824214	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17824322	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2063997	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs28583775	0.86[ASN][1000 genomes]
rs34180883	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3742737	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3783985	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4899652	1.00[JPT][hapmap]
rs4903578	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4903579	1.00[JPT][hapmap]
rs4903580	1.00[JPT][hapmap]
rs4903581	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6574374	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7149534	1.00[ASN][1000 genomes]
rs7155063	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7156032	1.00[CHB][hapmap]
rs7156671	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs8007503	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs8010520	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs8017215	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs8018509	0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8177544	1.00[MEX][hapmap]
rs8177550	1.00[MEX][hapmap]
rs9323643	0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041985	chr14:77877421-77936969	Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv832835	chr14:77906706-78095207	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs17751412	ZDHHC22	cis	parietal	SCAN
rs17751412	ESRRB	cis	cerebellum	SCAN
rs17751412	AHSA1	cis	cerebellum	SCAN
rs17751412	ZDHHC22	cis	cerebellum	SCAN

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:77926000-77939000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr14:77926200-77937000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr14:77926200-77937000	Strong transcription	Fetal Stomach	stomach
4	chr14:77926200-77937000	Strong transcription	Ovary	ovary
5	chr14:77926400-77937000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
6	chr14:77926400-77937000	Strong transcription	Brain Substantia Nigra	brain
7	chr14:77926400-77937000	Strong transcription	Spleen	Spleen
8	chr14:77926400-77937200	Strong transcription	Primary T cells from cord blood	blood
9	chr14:77926400-77937200	Strong transcription	Liver	Liver
10	chr14:77926600-77937000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr14:77926800-77937000	Strong transcription	Brain Inferior Temporal Lobe	brain
12	chr14:77926800-77937000	Strong transcription	Left Ventricle	heart
13	chr14:77930400-77938200	Weak transcription	Fetal Heart	heart
14	chr14:77932200-77937600	Weak transcription	Stomach Mucosa	stomach
15	chr14:77932600-77937200	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr14:77932600-77937600	Weak transcription	Primary hematopoietic stem cells	blood
17	chr14:77932800-77938400	Weak transcription	Psoas Muscle	Psoas
18	chr14:77933200-77937000	Weak transcription	K562	blood
19	chr14:77933400-77937200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr14:77933400-77937600	Weak transcription	Fetal Brain Male	brain
21	chr14:77934800-77937200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr14:77935600-77937800	Weak transcription	HSMM	muscle
23	chr14:77935800-77937000	Weak transcription	Fetal Intestine Small	intestine
24	chr14:77935800-77937400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr14:77935800-77938200	Weak transcription	Small Intestine	intestine
26	chr14:77935800-77938600	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr14:77935800-77939000	Weak transcription	HUVEC	blood vessel
28	chr14:77935800-77939200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr14:77935800-77940400	Weak transcription	NHEK	skin
30	chr14:77936000-77937000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr14:77936000-77937200	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr14:77936000-77937400	Weak transcription	HSMMtube	muscle
33	chr14:77936000-77937600	Weak transcription	NHDF-Ad	bronchial
34	chr14:77936000-77941000	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr14:77936000-77944600	Weak transcription	GM12878-XiMat	blood
36	chr14:77936200-77937000	Weak transcription	Fetal Intestine Large	intestine
37	chr14:77936200-77937200	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr14:77936200-77937400	Enhancers	Rectal Mucosa Donor 31	rectum
39	chr14:77936200-77937800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr14:77936200-77937800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr14:77936200-77937800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr14:77936200-77937800	Weak transcription	Colon Smooth Muscle	Colon
43	chr14:77936200-77937800	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr14:77936200-77937800	Weak transcription	Esophagus	oesophagus
45	chr14:77936200-77937800	Weak transcription	Fetal Thymus	thymus
46	chr14:77936200-77937800	Weak transcription	Pancreas	Pancrea
47	chr14:77936200-77937800	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr14:77936200-77937800	Weak transcription	Monocytes-CD14+_RO01746	blood
49	chr14:77936200-77938000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr14:77936200-77938000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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