Variant report

Variant	rs2686815
Chromosome Location	chr7:100200674-100200675
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs11760595	0.86[JPT][hapmap]
rs11770880	0.86[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1829095	chr7:99814675-100494084	Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	393 gene(s)	inside rSNPs	diseases
2	nsv888777	chr7:100014711-100221867	Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	304 gene(s)	inside rSNPs	diseases
3	nsv888778	chr7:100014711-100236593	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	310 gene(s)	inside rSNPs	diseases
4	nsv888779	chr7:100014711-100313420	Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	321 gene(s)	inside rSNPs	diseases
5	nsv888782	chr7:100064719-100236593	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
6	nsv888785	chr7:100141861-100313420	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
7	nsv888786	chr7:100159567-100313420	Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
8	nsv831072	chr7:100162503-100362835	Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
9	nsv5868	chr7:100169998-100214646	Strong transcription Active TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	59 gene(s)	inside rSNPs	diseases
10	nsv888790	chr7:100200674-100232387	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	37 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs2686815	BUD31	cis	parietal	SCAN
rs2686815	SERPINE1	cis	cerebellum	SCAN
rs2686815	ZKSCAN1	cis	cerebellum	SCAN
rs2686815	C7orf59	cis	parietal	SCAN
rs2686815	MYH16	cis	cerebellum	SCAN
rs2686815	GATS	cis	parietal	SCAN

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100188600-100201400	Weak transcription	Spleen	Spleen
2	chr7:100194800-100201000	Weak transcription	Fetal Heart	heart
3	chr7:100196400-100201000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr7:100196600-100200800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr7:100199200-100201200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr7:100199400-100201000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr7:100199400-100202400	Active TSS	Fetal Kidney	kidney
8	chr7:100199600-100200800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr7:100199600-100201000	Active TSS	iPS-18 Cell Line	embryonic stem cell
10	chr7:100199600-100201000	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr7:100199600-100201000	Active TSS	NHLF	lung
12	chr7:100199600-100203600	Active TSS	iPS-15b Cell Line	embryonic stem cell
13	chr7:100199800-100200800	Active TSS	Fetal Lung	lung
14	chr7:100199800-100201200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
15	chr7:100199800-100201200	Active TSS	Fetal Intestine Large	intestine
16	chr7:100199800-100201400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr7:100199800-100201400	Enhancers	Placenta Amnion	Placenta Amnion
18	chr7:100199800-100201400	Active TSS	Rectal Mucosa Donor 29	rectum
19	chr7:100199800-100201800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
20	chr7:100199800-100201800	Flanking Active TSS	Fetal Stomach	stomach
21	chr7:100199800-100201800	Flanking Active TSS	K562	blood
22	chr7:100199800-100202400	Active TSS	NHDF-Ad	bronchial
23	chr7:100199800-100202600	Active TSS	Duodenum Smooth Muscle	Duodenum
24	chr7:100199800-100202800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr7:100199800-100203000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
26	chr7:100199800-100204000	Active TSS	H9 Cell Line	embryonic stem cell
27	chr7:100200000-100200800	Enhancers	Fetal Thymus	thymus
28	chr7:100200000-100201200	Enhancers	Primary T cells fromperipheralblood	blood
29	chr7:100200000-100201200	Active TSS	Pancreas	Pancrea
30	chr7:100200000-100201200	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
31	chr7:100200000-100201400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr7:100200000-100201400	Active TSS	Colonic Mucosa	Colon
33	chr7:100200000-100201400	Active TSS	Rectal Mucosa Donor 31	rectum
34	chr7:100200000-100201400	Enhancers	A549	lung
35	chr7:100200000-100201800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr7:100200000-100201800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr7:100200000-100202600	Active TSS	Colon Smooth Muscle	Colon
38	chr7:100200000-100203400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
39	chr7:100200000-100203600	Active TSS	Rectal Smooth Muscle	rectum
40	chr7:100200000-100203800	Active TSS	Left Ventricle	heart
41	chr7:100200200-100201000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr7:100200200-100201000	Active TSS	Adipose Nuclei	Adipose
43	chr7:100200200-100201000	Weak transcription	Aorta	Aorta
44	chr7:100200200-100201000	Bivalent/Poised TSS	Fetal Intestine Small	intestine
45	chr7:100200200-100201000	Weak transcription	Gastric	stomach
46	chr7:100200200-100201000	Enhancers	HSMM	muscle
47	chr7:100200200-100201200	Enhancers	Primary T helper cells fromperipheralblood	blood
48	chr7:100200200-100201200	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr7:100200200-100201200	Weak transcription	Lung	lung
50	chr7:100200200-100201400	Enhancers	Primary T helper naive cells from peripheral blood	blood

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