Variant report

Variant	rs2918943
Chromosome Location	chr15:44179703-44179704
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	POLR2A	chr15:44179013-44179948	U87	brain:	n/a	n/a
2	POLR2A	chr15:44178678-44184598	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr15:44179007-44180033	U87	brain:	n/a	n/a
4	POLR2A	chr15:44177710-44184889	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:44177766..44179908-chr15:44181955..44184452,3	K562	blood:

Variant related genes	Relation type
FRMD5	TF binding region

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11070411	0.96[YRI][hapmap]
rs2729494	1.00[YRI][hapmap]
rs2930531	1.00[YRI][hapmap]
rs35267287	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3862143	0.96[YRI][hapmap]
rs4644832	0.96[YRI][hapmap]
rs4923965	1.00[YRI][hapmap]
rs495880	1.00[YRI][hapmap]
rs514311	1.00[YRI][hapmap];0.80[AFR][1000 genomes]
rs528764	1.00[YRI][hapmap]
rs541871	1.00[YRI][hapmap];0.80[AFR][1000 genomes]
rs6493090	0.96[YRI][hapmap]
rs654276	0.87[YRI][hapmap]
rs678084	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1037786	chr15:43888926-44318587	Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv542370	chr15:43888926-44318587	Weak transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	nsv431387	chr15:43929378-44862930	Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	158 gene(s)	inside rSNPs	diseases
4	nsv931051	chr15:43988761-44833518	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	154 gene(s)	inside rSNPs	diseases
5	nsv1050263	chr15:44093927-44204047	Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	n/a
6	nsv1044435	chr15:44176103-44507403	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2918943	TUBGCP4	cis	Artery Tibial	GTEx

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:44119600-44181800	Weak transcription	Small Intestine	intestine
2	chr15:44119600-44183200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr15:44144800-44181000	Weak transcription	HepG2	liver
4	chr15:44146800-44181600	Weak transcription	Gastric	stomach
5	chr15:44151600-44181600	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr15:44152600-44180800	Weak transcription	Duodenum Mucosa	Duodenum
7	chr15:44156800-44206400	Weak transcription	Fetal Brain Male	brain
8	chr15:44158600-44180800	Weak transcription	Fetal Lung	lung
9	chr15:44162200-44186000	Weak transcription	HSMM	muscle
10	chr15:44166000-44184600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr15:44166400-44186600	Weak transcription	Primary hematopoietic stem cells	blood
12	chr15:44166600-44182600	Weak transcription	HUVEC	blood vessel
13	chr15:44166600-44183800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr15:44166800-44193800	Weak transcription	Spleen	Spleen
15	chr15:44166800-44196200	Weak transcription	Osteobl	bone
16	chr15:44168000-44180200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr15:44169000-44181000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr15:44170600-44188800	Weak transcription	NHDF-Ad	bronchial
19	chr15:44170800-44180000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr15:44171600-44181400	Strong transcription	Brain Germinal Matrix	brain
21	chr15:44173000-44182800	Weak transcription	Fetal Muscle Trunk	muscle
22	chr15:44173400-44182400	Weak transcription	Fetal Muscle Leg	muscle
23	chr15:44173400-44183000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr15:44173400-44185800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr15:44173600-44184800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr15:44173600-44208000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr15:44173800-44182800	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr15:44173800-44182800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr15:44173800-44183000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr15:44173800-44186200	Weak transcription	GM12878-XiMat	blood
31	chr15:44173800-44190000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr15:44173800-44193600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr15:44173800-44211600	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr15:44174000-44180800	Weak transcription	Fetal Intestine Large	intestine
35	chr15:44174000-44184400	Strong transcription	Brain Cingulate Gyrus	brain
36	chr15:44174200-44194200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr15:44174200-44195800	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr15:44174200-44195800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr15:44174200-44211600	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr15:44174600-44180400	Weak transcription	Primary neutrophils fromperipheralblood	blood
41	chr15:44175400-44180000	Strong transcription	Brain Hippocampus Middle	brain
42	chr15:44175600-44180800	Strong transcription	Fetal Stomach	stomach
43	chr15:44175600-44184400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr15:44176600-44182400	Weak transcription	Fetal Thymus	thymus
45	chr15:44176600-44192000	Weak transcription	Hela-S3	cervix
46	chr15:44176800-44193600	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr15:44177000-44181000	Weak transcription	Fetal Intestine Small	intestine
48	chr15:44177000-44182600	Weak transcription	Fetal Brain Female	brain
49	chr15:44177000-44185800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr15:44177000-44187400	Weak transcription	Brain Substantia Nigra	brain

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