Variant report

Variant	rs17169325
Chromosome Location	chr7:97755098-97755099
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SPI1	chr7:97755007-97755651	HL-60	blood:	n/a	n/a
2	SPI1	chr7:97755058-97755406	HL-60	blood:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:97753385..97755585-chr7:97757757..97760678,3	K562	blood:
2	chr7:97735652..97737286-chr7:97753750..97756683,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TECPR1-2	chr7:97752600-97755814	NONHSAT122171

No data

Variant related genes	Relation type
LMTK2	TF binding region
ENSG00000164715	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1039057	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11761896	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11762771	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11762810	0.88[EUR][1000 genomes]
rs11768678	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11772060	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11773169	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1532380	0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2394824	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4729404	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4729408	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55761857	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55765204	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56006208	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56034325	0.95[EUR][1000 genomes]
rs56088922	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56174823	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56389625	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58911561	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62479768	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62479773	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62479795	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62479797	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73149199	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs740208	0.87[EUR][1000 genomes]
rs884897	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1031371	chr7:97312452-98070538	Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	esv3500384	chr7:97527787-98015382	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
3	esv3500386	chr7:97527787-98015382	Bivalent Enhancer Flanking Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
4	nsv1017481	chr7:97597641-98041043	Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
5	nsv539031	chr7:97597641-98041043	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
6	nsv1019531	chr7:97653880-98034129	Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv539032	chr7:97653880-98034129	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	esv1816676	chr7:97676259-97868033	Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv831066	chr7:97726879-97890550	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs17169325	DKFZP434B0335	Cis_1M	lymphoblastoid	RTeQTL
rs17169325	AKAP8	trans	lymphoblastoid	RTeQTL

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:97737200-97762400	Weak transcription	Aorta	Aorta
2	chr7:97737200-97764600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:97737600-97762400	Weak transcription	Small Intestine	intestine
4	chr7:97737800-97759600	Weak transcription	Right Ventricle	heart
5	chr7:97737800-97760800	Weak transcription	Rectal Smooth Muscle	rectum
6	chr7:97737800-97767000	Weak transcription	Fetal Stomach	stomach
7	chr7:97738800-97759200	Weak transcription	Dnd41	blood
8	chr7:97740200-97755200	Weak transcription	Fetal Brain Female	brain
9	chr7:97741000-97760400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr7:97741000-97760600	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr7:97741200-97767600	Weak transcription	Fetal Brain Male	brain
12	chr7:97741800-97755400	Weak transcription	Psoas Muscle	Psoas
13	chr7:97742000-97759200	Weak transcription	Fetal Intestine Large	intestine
14	chr7:97743600-97758800	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr7:97744000-97757400	Weak transcription	Thymus	Thymus
16	chr7:97744400-97759000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr7:97744800-97760000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr7:97745000-97759200	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr7:97745200-97755600	Weak transcription	Primary T cells from cord blood	blood
20	chr7:97745600-97759800	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr7:97745600-97781600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr7:97746400-97760200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr7:97746400-97772600	Weak transcription	Fetal Kidney	kidney
24	chr7:97746600-97760200	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr7:97746600-97767000	Weak transcription	Esophagus	oesophagus
26	chr7:97746800-97755400	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr7:97746800-97760200	Weak transcription	Duodenum Mucosa	Duodenum
28	chr7:97746800-97761200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr7:97747000-97760400	Weak transcription	Stomach Mucosa	stomach
30	chr7:97747200-97755400	Weak transcription	Pancreas	Pancrea
31	chr7:97748800-97760400	Weak transcription	HUVEC	blood vessel
32	chr7:97749000-97760600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr7:97749200-97755400	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr7:97749200-97755600	Weak transcription	HSMM	muscle
35	chr7:97749200-97756000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr7:97749400-97760800	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr7:97749600-97760800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr7:97749800-97755600	Weak transcription	NHEK	skin
39	chr7:97749800-97762400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr7:97750000-97760400	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr7:97750200-97760400	Weak transcription	Osteobl	bone
42	chr7:97750400-97755400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr7:97750400-97756200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr7:97750400-97757600	Weak transcription	Ovary	ovary
45	chr7:97750600-97755600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr7:97750600-97759400	Weak transcription	Hela-S3	cervix
47	chr7:97751200-97759800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr7:97751200-97760600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr7:97751400-97761000	Weak transcription	Fetal Thymus	thymus
50	chr7:97751400-97767600	Weak transcription	Brain Germinal Matrix	brain

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