Variant report

Variant	rs2930534
Chromosome Location	chr15:44180814-44180815
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	POLR2A	chr15:44180092-44182096	U87	brain:	n/a	n/a
2	POLR2A	chr15:44180362-44181102	PANC-1	pancreas:	n/a	n/a
3	POLR2A	chr15:44178678-44184598	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr15:44180566-44180888	A549	lung:	n/a	n/a
5	POLR2A	chr15:44180229-44181808	U87	brain:	n/a	n/a
6	POLR2A	chr15:44177710-44184889	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:44180371..44182941-chr15:44183225..44186140,3	K562	blood:

Variant related genes	Relation type
FRMD5	TF binding region

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs2059625	1.00[EUR][1000 genomes]
rs2447200	1.00[EUR][1000 genomes]
rs2447214	1.00[EUR][1000 genomes]
rs2470123	1.00[EUR][1000 genomes]
rs2733225	1.00[EUR][1000 genomes]
rs28537381	1.00[EUR][1000 genomes]
rs2899104	1.00[EUR][1000 genomes]
rs2915787	1.00[TSI][hapmap]
rs2929276	1.00[EUR][1000 genomes]
rs2930527	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs2930532	0.84[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35093130	1.00[EUR][1000 genomes]
rs475758	0.88[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs482124	1.00[EUR][1000 genomes]
rs483165	1.00[EUR][1000 genomes]
rs4923965	0.81[YRI][hapmap]
rs4924721	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs492571	0.83[LWK][hapmap]
rs494774	1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56329224	1.00[EUR][1000 genomes]
rs612258	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs654276	0.86[YRI][hapmap]
rs656473	1.00[EUR][1000 genomes]
rs7171948	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs893612	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]

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

No data

Chromatin state (count:74 , 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	chr15:44156800-44206400	Weak transcription	Fetal Brain Male	brain
7	chr15:44162200-44186000	Weak transcription	HSMM	muscle
8	chr15:44166000-44184600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr15:44166400-44186600	Weak transcription	Primary hematopoietic stem cells	blood
10	chr15:44166600-44182600	Weak transcription	HUVEC	blood vessel
11	chr15:44166600-44183800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr15:44166800-44193800	Weak transcription	Spleen	Spleen
13	chr15:44166800-44196200	Weak transcription	Osteobl	bone
14	chr15:44169000-44181000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr15:44170600-44188800	Weak transcription	NHDF-Ad	bronchial
16	chr15:44171600-44181400	Strong transcription	Brain Germinal Matrix	brain
17	chr15:44173000-44182800	Weak transcription	Fetal Muscle Trunk	muscle
18	chr15:44173400-44182400	Weak transcription	Fetal Muscle Leg	muscle
19	chr15:44173400-44183000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr15:44173400-44185800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr15:44173600-44184800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr15:44173600-44208000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr15:44173800-44182800	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr15:44173800-44182800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr15:44173800-44183000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr15:44173800-44186200	Weak transcription	GM12878-XiMat	blood
27	chr15:44173800-44190000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr15:44173800-44193600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr15:44173800-44211600	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr15:44174000-44184400	Strong transcription	Brain Cingulate Gyrus	brain
31	chr15:44174200-44194200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr15:44174200-44195800	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr15:44174200-44195800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr15:44174200-44211600	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr15:44175600-44184400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr15:44176600-44182400	Weak transcription	Fetal Thymus	thymus
37	chr15:44176600-44192000	Weak transcription	Hela-S3	cervix
38	chr15:44176800-44193600	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr15:44177000-44181000	Weak transcription	Fetal Intestine Small	intestine
40	chr15:44177000-44182600	Weak transcription	Fetal Brain Female	brain
41	chr15:44177000-44185800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr15:44177000-44187400	Weak transcription	Brain Substantia Nigra	brain
43	chr15:44177200-44181200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr15:44177200-44186600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr15:44177200-44192000	Weak transcription	A549	lung
46	chr15:44177200-44192800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr15:44177600-44181000	Weak transcription	HMEC	breast
48	chr15:44178200-44197800	Weak transcription	NHLF	lung
49	chr15:44178400-44189400	Enhancers	Fetal Heart	heart
50	chr15:44178800-44182600	Weak transcription	Brain Angular Gyrus	brain

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