Variant report

Variant	rs2930527
Chromosome Location	chr15:44106061-44106062
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	chr15:44105907-44106361	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:44104530..44106694-chr15:44134713..44136678,2	K562	blood:
2	chr15:44103932..44109487-chr15:44114452..44118185,8	K562	blood:
3	chr15:44098507..44101720-chr15:44105245..44108356,4	K562	blood:
4	chr15:44103992..44107108-chr15:44112722..44117387,5	MCF-7	breast:

Variant related genes	Relation type
MFAP1	TF binding region
ENSG00000140259	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs12438668	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1814540	1.00[EUR][1000 genomes]
rs2245161	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2247734	1.00[EUR][1000 genomes]
rs2264048	1.00[EUR][1000 genomes]
rs2264051	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2447200	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2447214	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2470123	1.00[EUR][1000 genomes]
rs28537381	1.00[EUR][1000 genomes]
rs2899104	1.00[EUR][1000 genomes]
rs2915787	1.00[ASW][hapmap];0.95[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs2929276	1.00[EUR][1000 genomes]
rs2930532	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs2930534	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs35093130	1.00[EUR][1000 genomes]
rs475758	1.00[EUR][1000 genomes]
rs482124	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs483165	1.00[EUR][1000 genomes]
rs4924721	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs494774	1.00[EUR][1000 genomes]
rs555252	1.00[EUR][1000 genomes]
rs559805	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56329224	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59083674	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs612258	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs656473	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs689735	1.00[EUR][1000 genomes]
rs7171948	1.00[ASW][hapmap];0.95[LWK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1846172	chr15:43632138-44116986	Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
2	esv1846701	chr15:43759774-44116986	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	esv2758379	chr15:43823158-44148641	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
4	esv2760028	chr15:43823158-44148641	Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
5	nsv427960	chr15:43823158-44148641	Flanking Active TSS Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
6	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
7	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
8	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
9	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
10	nsv1036318	chr15:44053617-44160773	Flanking Active TSS Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
11	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

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:44093600-44116000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr15:44093600-44116400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr15:44093800-44107000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr15:44093800-44109000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr15:44093800-44112800	Strong transcription	Thymus	Thymus
6	chr15:44093800-44113800	Weak transcription	Stomach Mucosa	stomach
7	chr15:44093800-44115800	Weak transcription	Right Atrium	heart
8	chr15:44094000-44107800	Strong transcription	Lung	lung
9	chr15:44094000-44109800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr15:44094000-44110000	Strong transcription	Brain Anterior Caudate	brain
11	chr15:44094000-44110000	Strong transcription	Placenta	Placenta
12	chr15:44094000-44110000	Strong transcription	Fetal Thymus	thymus
13	chr15:44094000-44110000	Strong transcription	Skeletal Muscle Female	skeletal muscle
14	chr15:44094000-44110000	Strong transcription	Stomach Smooth Muscle	stomach
15	chr15:44094000-44110200	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr15:44094000-44110200	Strong transcription	Primary T cells fromperipheralblood	blood
17	chr15:44094000-44110200	Strong transcription	Fetal Intestine Large	intestine
18	chr15:44094000-44110400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr15:44094000-44110400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr15:44094000-44110800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr15:44094000-44111200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr15:44094000-44111200	Strong transcription	Fetal Muscle Trunk	muscle
23	chr15:44094000-44113200	Strong transcription	Fetal Muscle Leg	muscle
24	chr15:44094000-44113400	Strong transcription	Fetal Stomach	stomach
25	chr15:44094000-44114600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr15:44094000-44114800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr15:44094200-44108000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr15:44094200-44110000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
29	chr15:44094200-44110000	Strong transcription	Adipose Nuclei	Adipose
30	chr15:44094200-44110000	Strong transcription	Duodenum Mucosa	Duodenum
31	chr15:44094200-44110200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr15:44094200-44110200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr15:44094200-44110200	Strong transcription	Sigmoid Colon	Sigmoid Colon
34	chr15:44094200-44110600	Strong transcription	HUES48 Cell Line	embryonic stem cell
35	chr15:44094200-44111200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr15:44094200-44111200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr15:44094200-44111400	Strong transcription	Primary T cells from cord blood	blood
38	chr15:44094200-44111600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr15:44094200-44113000	Strong transcription	Cortex derived primary cultured neurospheres	brain
40	chr15:44094200-44113200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr15:44094400-44107400	Strong transcription	Skeletal Muscle Male	skeletal muscle
42	chr15:44094400-44109800	Strong transcription	H1 Cell Line	embryonic stem cell
43	chr15:44094400-44110000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
44	chr15:44094400-44110000	Strong transcription	Dnd41	blood
45	chr15:44094400-44110200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
46	chr15:44094400-44110200	Strong transcription	Liver	Liver
47	chr15:44094400-44110400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr15:44094400-44111000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr15:44094400-44111200	Strong transcription	Rectal Mucosa Donor 29	rectum
50	chr15:44094400-44113200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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