Variant report

Variant	rs10900387
Chromosome Location	chr1:147114303-147114304
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:146745300..146745891-chr1:147113890..147114450,2	MCF-7	breast:
2	chr1:147111969..147114581-chr1:147114883..147116475,2	MCF-7	breast:
3	chr1:146986878..146987825-chr1:147113615..147114624,5	MCF-7	breast:
4	chr1:147113491..147114459-chr1:147364114..147365461,7	MCF-7	breast:
5	chr1:146966391..146967425-chr1:147113261..147114425,11	MCF-7	breast:
6	chr1:147112261..147114414-chr1:147171374..147172710,13	MCF-7	breast:
7	chr1:147110556..147114398-chr1:147147907..147150571,4	MCF-7	breast:
8	chr1:147112511..147115637-chr1:147115937..147121176,5	MCF-7	breast:
9	chr1:146968843..146971407-chr1:147111788..147114623,2	MCF-7	breast:
10	chr1:147113527..147114915-chr1:147364554..147365492,4	MCF-7	breast:
11	chr1:146966519..146967415-chr1:147113356..147114363,3	MCF-7	breast:
12	chr1:146966528..146967408-chr1:147113486..147114375,3	K562	blood:
13	chr1:146966419..146968529-chr1:147112636..147115549,2	MCF-7	breast:
14	chr1:147112272..147114709-chr1:147363667..147365778,2	MCF-7	breast:
15	chr1:146966147..146968131-chr1:147113029..147115620,2	MCF-7	breast:
16	chr1:146745162..146746051-chr1:147113878..147114401,2	K562	blood:
17	chr1:147113863..147119678-chr1:147120238..147124077,6	K562	blood:
18	chr1:147112207..147114432-chr1:147361910..147363394,12	MCF-7	breast:
19	chr1:147113839..147116545-chr1:147119973..147121917,2	MCF-7	breast:
20	chr1:146987573..146989081-chr1:147113048..147114594,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000162836	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10494247	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12045115	0.84[CEU][hapmap];0.89[CHB][hapmap];0.90[JPT][hapmap];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1344	0.84[CEU][hapmap];0.89[CHB][hapmap];0.90[JPT][hapmap];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs885239	0.81[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv872252	chr1:146471863-147398135	Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	112 gene(s)	inside rSNPs	diseases
2	nsv999546	chr1:146507577-147356574	Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
3	nsv535123	chr1:146507577-147356574	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription 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	110 gene(s)	inside rSNPs	diseases
4	nsv492188	chr1:146507649-147381479	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
5	nsv916754	chr1:146507711-147417736	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	113 gene(s)	inside rSNPs	diseases
6	nsv547673	chr1:146510112-147398135	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
7	nsv547674	chr1:146522722-147396797	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
8	nsv998341	chr1:146531446-147384720	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
9	nsv535124	chr1:146531446-147384720	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
10	nsv1003493	chr1:146531446-147389944	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
11	nsv998209	chr1:146543722-147384720	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
12	nsv535126	chr1:146543722-147384720	Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
13	nsv872256	chr1:146556596-147410973	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
14	nsv1012331	chr1:146603479-147384720	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
15	nsv535131	chr1:146603479-147384720	Genic enhancers Strong transcription Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
16	nsv1004849	chr1:146661516-147286826	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
17	nsv535135	chr1:146661516-147286826	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
18	nsv534063	chr1:146807433-147381411	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
19	nsv1001868	chr1:146893791-147389944	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
20	nsv482606	chr1:146959127-147134517	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
21	nsv872266	chr1:147020099-147381558	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats 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	20 gene(s)	inside rSNPs	diseases
22	nsv831426	chr1:147089930-147265267	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs10900387	ACP6	cis	Muscle Skeletal	GTEx
rs10900387	ACP6	cis	Esophagus Muscularis	GTEx
rs10900387	ACP6	cis	Brain Pons	GTEx
rs10900387	ACP6	cis	Thyroid	GTEx
rs10900387	ACP6	Cis_1M	lymphoblastoid	RTeQTL
rs10900387	ACP6	cis	Artery Tibial	GTEx

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:147091800-147119800	Weak transcription	Hela-S3	cervix
2	chr1:147092800-147117600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr1:147096600-147115000	Weak transcription	Brain Anterior Caudate	brain
4	chr1:147096600-147115200	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr1:147096600-147122800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr1:147096800-147114400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr1:147096800-147115000	Weak transcription	Stomach Smooth Muscle	stomach
8	chr1:147096800-147117000	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr1:147096800-147117200	Weak transcription	Brain Hippocampus Middle	brain
10	chr1:147096800-147119400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr1:147096800-147119400	Weak transcription	Aorta	Aorta
12	chr1:147096800-147119600	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr1:147096800-147119600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr1:147096800-147119600	Weak transcription	Gastric	stomach
15	chr1:147096800-147119600	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr1:147096800-147119800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr1:147097000-147114400	Weak transcription	Fetal Brain Female	brain
18	chr1:147097000-147114400	Weak transcription	Thymus	Thymus
19	chr1:147097600-147130000	Weak transcription	Stomach Mucosa	stomach
20	chr1:147097800-147114600	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr1:147097800-147115000	Weak transcription	Spleen	Spleen
22	chr1:147097800-147119800	Weak transcription	Brain Substantia Nigra	brain
23	chr1:147097800-147124000	Weak transcription	Small Intestine	intestine
24	chr1:147098000-147119800	Weak transcription	Brain Germinal Matrix	brain
25	chr1:147098600-147117000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr1:147099400-147119200	Weak transcription	Fetal Intestine Large	intestine
27	chr1:147100200-147114800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr1:147101600-147115000	Weak transcription	Primary T cells from cord blood	blood
29	chr1:147102200-147114400	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr1:147102400-147117200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr1:147102800-147120800	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr1:147104200-147115000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr1:147104600-147114400	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr1:147104800-147119200	Weak transcription	Pancreas	Pancrea
35	chr1:147107400-147118200	Weak transcription	Primary B cells from cord blood	blood
36	chr1:147107800-147114400	Weak transcription	Primary hematopoietic stem cells	blood
37	chr1:147109400-147124000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr1:147111000-147117600	Weak transcription	Brain Cingulate Gyrus	brain
39	chr1:147111000-147128400	Weak transcription	HUVEC	blood vessel
40	chr1:147111600-147115200	Enhancers	Primary neutrophils fromperipheralblood	blood
41	chr1:147112200-147114400	Enhancers	HepG2	liver
42	chr1:147112400-147114800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
43	chr1:147112600-147115000	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr1:147112600-147117200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
45	chr1:147112600-147119600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr1:147112600-147124000	Weak transcription	HSMMtube	muscle
47	chr1:147112800-147122200	Weak transcription	Psoas Muscle	Psoas
48	chr1:147113000-147114400	Weak transcription	Fetal Muscle Leg	muscle
49	chr1:147113000-147119200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr1:147113000-147119600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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