Variant report

Variant	rs4775094
Chromosome Location	chr15:59115995-59115996
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:59114714..59117798-chr15:59118942..59121518,3	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs11071398	0.81[CEU][hapmap];0.82[AMR][1000 genomes]
rs11854073	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[GIH][hapmap];0.80[MEX][hapmap];0.80[TSI][hapmap]
rs1427281	1.00[CHB][hapmap];0.89[GIH][hapmap]
rs1648532	1.00[CHB][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17190727	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2555356	1.00[CHB][hapmap]
rs2555357	0.81[AMR][1000 genomes]
rs28864995	0.92[CHB][hapmap];0.89[GIH][hapmap]
rs347115	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.89[GIH][hapmap];0.88[JPT][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs347117	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[GIH][hapmap];0.83[TSI][hapmap]
rs383902	0.92[CEU][hapmap];0.92[CHB][hapmap];0.93[GIH][hapmap];0.87[TSI][hapmap]
rs387812	0.81[CEU][hapmap];0.83[MEX][hapmap]
rs395601	0.81[CEU][hapmap]
rs442495	0.96[CEU][hapmap];1.00[CHB][hapmap];0.82[EUR][1000 genomes]
rs446126	0.82[AMR][1000 genomes]
rs452698	0.81[AMR][1000 genomes]
rs474875	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.96[GIH][hapmap];0.88[JPT][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4774310	0.84[CEU][hapmap];1.00[CHB][hapmap]
rs4775087	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[GIH][hapmap];0.80[MEX][hapmap];0.80[TSI][hapmap]
rs507801	0.83[CHB][hapmap]
rs514049	0.81[GIH][hapmap]
rs593742	0.95[GIH][hapmap]
rs596379	0.81[EUR][1000 genomes]
rs605928	0.92[CHB][hapmap];0.98[GIH][hapmap]
rs610877	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.98[GIH][hapmap];0.88[JPT][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs618684	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6494036	0.88[CEU][hapmap];1.00[CHB][hapmap];0.86[GIH][hapmap]
rs653765	0.88[CEU][hapmap];1.00[CHB][hapmap];0.93[GIH][hapmap]
rs673813	1.00[CHB][hapmap];0.88[JPT][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs682619	0.96[YRI][hapmap]
rs714696	1.00[CHB][hapmap]
rs7161889	0.96[CEU][hapmap];1.00[CHB][hapmap];0.93[GIH][hapmap];0.80[MEX][hapmap];0.80[TSI][hapmap]
rs7183336	1.00[CHB][hapmap]
rs972801	0.92[CHB][hapmap];0.86[GIH][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	esv34110	chr15:58949991-59381634	Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers 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	87 gene(s)	inside rSNPs	diseases
2	esv1826703	chr15:59005922-59213678	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer 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 target site	44 gene(s)	inside rSNPs	diseases
3	esv1798487	chr15:59027139-59213678	Strong transcription Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	nsv428638	chr15:59032300-59126567	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
5	nsv527307	chr15:59103328-60018487	Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
6	nsv1035640	chr15:59105360-59190930	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4775094	ADAM10	cis	parietal	SCAN

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:59064600-59145600	Weak transcription	Gastric	stomach
2	chr15:59065200-59117800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr15:59065800-59142800	Weak transcription	Aorta	Aorta
4	chr15:59067000-59157800	Weak transcription	Hela-S3	cervix
5	chr15:59069600-59119000	Weak transcription	Fetal Brain Male	brain
6	chr15:59069800-59121400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr15:59075000-59139800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr15:59077800-59122000	Weak transcription	Brain Substantia Nigra	brain
9	chr15:59077800-59153600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr15:59086200-59125800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr15:59086400-59125800	Weak transcription	Right Ventricle	heart
12	chr15:59088400-59119200	Weak transcription	Colonic Mucosa	Colon
13	chr15:59090200-59156600	Weak transcription	Small Intestine	intestine
14	chr15:59090400-59121600	Weak transcription	Fetal Heart	heart
15	chr15:59094200-59122800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr15:59095200-59156800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr15:59100400-59122200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr15:59100400-59139800	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr15:59102000-59126400	Weak transcription	Stomach Mucosa	stomach
20	chr15:59103200-59135200	Weak transcription	Pancreas	Pancrea
21	chr15:59103400-59119800	Weak transcription	HUVEC	blood vessel
22	chr15:59103400-59120200	Weak transcription	GM12878-XiMat	blood
23	chr15:59103600-59118000	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr15:59103600-59148800	Weak transcription	A549	lung
25	chr15:59103800-59119000	Weak transcription	Dnd41	blood
26	chr15:59103800-59122000	Weak transcription	Colon Smooth Muscle	Colon
27	chr15:59103800-59133000	Weak transcription	Spleen	Spleen
28	chr15:59103800-59157000	Weak transcription	Psoas Muscle	Psoas
29	chr15:59104000-59117200	Weak transcription	NHDF-Ad	bronchial
30	chr15:59104000-59117600	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr15:59104000-59118600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr15:59104000-59118600	Weak transcription	Fetal Brain Female	brain
33	chr15:59104000-59120000	Weak transcription	Primary B cells from peripheral blood	blood
34	chr15:59104000-59122200	Weak transcription	Brain Angular Gyrus	brain
35	chr15:59104000-59122400	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr15:59104000-59122600	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr15:59104000-59125200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr15:59104000-59125600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr15:59104000-59126800	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr15:59104000-59137600	Weak transcription	Liver	Liver
41	chr15:59104000-59139800	Weak transcription	Fetal Lung	lung
42	chr15:59104000-59146600	Weak transcription	NH-A	brain
43	chr15:59104000-59148400	Weak transcription	Rectal Smooth Muscle	rectum
44	chr15:59104000-59157000	Weak transcription	Esophagus	oesophagus
45	chr15:59104000-59157200	Weak transcription	NHLF	lung
46	chr15:59104200-59117200	Weak transcription	HSMM	muscle
47	chr15:59105000-59139800	Weak transcription	HMEC	breast
48	chr15:59105400-59117400	Weak transcription	Brain Anterior Caudate	brain
49	chr15:59105600-59125400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr15:59105800-59118600	Weak transcription	HUES6 Cell Line	embryonic stem cell

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