Variant report

Variant	rs1011041
Chromosome Location	chr15:99797546-99797547
allele	A/C
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	MAFK	chr15:99797345-99797652	IMR90	lung:	n/a	n/a
2	MAFK	chr15:99797334-99797687	HepG2	liver:	n/a	n/a
3	FOXA1	chr15:99797493-99797763	HepG2	liver:	n/a	n/a
4	MAFF	chr15:99797349-99797660	HepG2	liver:	n/a	n/a
5	MAFK	chr15:99797332-99797679	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
ENSG00000264771	TF binding region
HSP90B2P	TF binding region

Extended variants
information (count: 30 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs28483588	0.97[ASN][1000 genomes]
rs35892074	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3743238	0.88[ASN][1000 genomes]
rs56854120	0.97[ASN][1000 genomes]
rs60745649	0.97[ASN][1000 genomes]
rs61141351	0.97[ASN][1000 genomes]
rs62023768	0.97[ASN][1000 genomes]
rs62023769	0.97[ASN][1000 genomes]
rs62023777	0.97[ASN][1000 genomes]
rs62023778	0.97[ASN][1000 genomes]
rs62023779	0.97[ASN][1000 genomes]
rs71399866	0.80[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531079	chr15:98907913-99878547	Strong transcription Weak transcription Genic enhancers Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
2	nsv1039575	chr15:98982045-99924685	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
3	nsv869529	chr15:99416774-99903351	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
4	nsv1055008	chr15:99477144-100019861	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
5	nsv1045124	chr15:99504843-99847210	Strong transcription Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
6	nsv904543	chr15:99513231-99991506	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
7	nsv533926	chr15:99519820-99997114	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
8	nsv915926	chr15:99519820-100138705	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
9	nsv916822	chr15:99621061-99878564	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
10	nsv949203	chr15:99621061-99932797	Strong transcription Weak transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
11	nsv817289	chr15:99621061-100138705	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
12	nsv431411	chr15:99621061-100143999	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
13	nsv570716	chr15:99629901-99916332	Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
14	nsv904546	chr15:99696046-100166300	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
15	nsv1052528	chr15:99736977-99874210	Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
16	nsv1036346	chr15:99752391-100365458	Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
17	nsv542520	chr15:99752391-100365458	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
18	nsv1045367	chr15:99781626-99892182	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1011041	TTC23	cis	Thyroid	GTEx

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:99792200-99802800	Weak transcription	Esophagus	oesophagus
2	chr15:99792200-99807400	Weak transcription	Ovary	ovary
3	chr15:99792200-99846400	Weak transcription	Lung	lung
4	chr15:99792400-99804200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr15:99792600-99832200	Weak transcription	Aorta	Aorta
6	chr15:99792800-99798400	Weak transcription	Colon Smooth Muscle	Colon
7	chr15:99792800-99801600	Weak transcription	Fetal Stomach	stomach
8	chr15:99792800-99802800	Weak transcription	A549	lung
9	chr15:99792800-99804200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr15:99792800-99804600	Weak transcription	Placenta	Placenta
11	chr15:99792800-99847000	Weak transcription	Right Ventricle	heart
12	chr15:99793000-99797800	Weak transcription	Fetal Lung	lung
13	chr15:99793000-99799000	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr15:99793000-99799400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr15:99793000-99803200	Weak transcription	Brain Hippocampus Middle	brain
16	chr15:99793000-99804200	Weak transcription	Fetal Heart	heart
17	chr15:99793000-99804400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr15:99793000-99804600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr15:99793000-99805400	Weak transcription	Fetal Brain Female	brain
20	chr15:99793000-99823800	Weak transcription	Fetal Brain Male	brain
21	chr15:99793000-99838000	Weak transcription	Rectal Smooth Muscle	rectum
22	chr15:99793000-99850400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr15:99793000-99866600	Weak transcription	Gastric	stomach
24	chr15:99793200-99797600	Weak transcription	Brain Angular Gyrus	brain
25	chr15:99793200-99804200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr15:99793200-99805600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr15:99793200-99805800	Weak transcription	Brain Germinal Matrix	brain
28	chr15:99793200-99808000	Weak transcription	Fetal Kidney	kidney
29	chr15:99793200-99822400	Weak transcription	Adipose Nuclei	Adipose
30	chr15:99793400-99803000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr15:99794000-99798400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr15:99794000-99804200	Weak transcription	Thymus	Thymus
33	chr15:99794000-99804400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr15:99794000-99804400	Weak transcription	Spleen	Spleen
35	chr15:99794000-99805000	Weak transcription	Primary neutrophils fromperipheralblood	blood
36	chr15:99794000-99808400	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr15:99794000-99830800	Weak transcription	Fetal Muscle Leg	muscle
38	chr15:99794000-99840000	Weak transcription	Brain Anterior Caudate	brain
39	chr15:99794000-99846400	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr15:99794200-99797600	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr15:99794200-99797800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr15:99794200-99797800	Weak transcription	Primary hematopoietic stem cells	blood
43	chr15:99794200-99797800	Weak transcription	Fetal Intestine Large	intestine
44	chr15:99794200-99797800	Weak transcription	Fetal Intestine Small	intestine
45	chr15:99794200-99797800	Weak transcription	Small Intestine	intestine
46	chr15:99794200-99798400	Weak transcription	Fetal Thymus	thymus
47	chr15:99794200-99799200	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr15:99794200-99799600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr15:99794200-99799600	Weak transcription	Psoas Muscle	Psoas
50	chr15:99794200-99801000	Weak transcription	Skeletal Muscle Female	skeletal muscle

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