Variant report

Variant	rs1929861
Chromosome Location	chr1:227216662-227216663
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	chr1:227210940..227212945-chr1:227215048..227216859,2	K562	blood:

Extended variants
information (count: 48 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10495261	0.85[JPT][hapmap]
rs10495262	0.85[JPT][hapmap]
rs10495264	0.82[JPT][hapmap]
rs10753430	0.94[ASW][hapmap];0.92[CEU][hapmap];0.82[LWK][hapmap];0.84[TSI][hapmap]
rs11800145	0.84[JPT][hapmap]
rs11800705	0.85[JPT][hapmap]
rs11804358	0.85[JPT][hapmap]
rs11808884	0.85[JPT][hapmap]
rs11808903	0.85[JPT][hapmap]
rs11810506	0.85[JPT][hapmap]
rs12410431	0.88[JPT][hapmap]
rs1319103	0.94[ASW][hapmap];1.00[GIH][hapmap];0.83[YRI][hapmap];0.81[AFR][1000 genomes]
rs16846842	0.85[JPT][hapmap]
rs16846854	0.85[JPT][hapmap]
rs16846989	0.85[JPT][hapmap]
rs1929853	0.85[JPT][hapmap]
rs1929860	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2150872	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2225508	0.85[JPT][hapmap]
rs2492629	0.84[JPT][hapmap]
rs2802273	0.85[JPT][hapmap]
rs2802274	0.85[JPT][hapmap]
rs2813971	0.85[JPT][hapmap]
rs489565	0.84[JPT][hapmap]
rs490517	0.89[JPT][hapmap]
rs497291	0.85[JPT][hapmap]
rs511679	0.85[JPT][hapmap]
rs545171	0.84[JPT][hapmap]
rs572561	0.85[JPT][hapmap]
rs629571	0.85[JPT][hapmap]
rs664617	0.85[JPT][hapmap]
rs664815	0.85[JPT][hapmap]
rs6681424	0.85[JPT][hapmap]
rs72748181	0.96[ASN][1000 genomes]
rs7531576	0.85[JPT][hapmap]
rs7538743	0.85[JPT][hapmap]
rs7546600	1.00[ASN][1000 genomes]
rs9426545	0.85[JPT][hapmap]
rs9426606	0.84[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003656	chr1:227034700-227559665	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv535318	chr1:227034700-227559665	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer 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	35 gene(s)	inside rSNPs	diseases
3	nsv1007352	chr1:227196502-227247160	ZNF genes & repeats Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv997751	chr1:227196502-227263537	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv1011654	chr1:227196502-227308416	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1010864	chr1:227199493-227246753	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv1014423	chr1:227201253-227268843	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv832792	chr1:227211378-227364992	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv1012482	chr1:227212024-227271750	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1929861	DNAH14	cis	parietal	SCAN

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227154400-227294200	Weak transcription	Hela-S3	cervix
2	chr1:227177400-227255200	Weak transcription	Small Intestine	intestine
3	chr1:227178400-227271200	Weak transcription	Psoas Muscle	Psoas
4	chr1:227178600-227226200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr1:227182800-227224200	Weak transcription	Spleen	Spleen
6	chr1:227183200-227228200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr1:227183200-227240400	Weak transcription	Colonic Mucosa	Colon
8	chr1:227184000-227234000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:227187200-227218600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr1:227190600-227217000	Weak transcription	Esophagus	oesophagus
11	chr1:227190600-227223200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr1:227190600-227272600	Weak transcription	Lung	lung
13	chr1:227192600-227220200	Weak transcription	Rectal Smooth Muscle	rectum
14	chr1:227192800-227220200	Weak transcription	Gastric	stomach
15	chr1:227202600-227217200	Strong transcription	Adipose Nuclei	Adipose
16	chr1:227202600-227222600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr1:227203000-227278800	Weak transcription	Pancreas	Pancrea
18	chr1:227205600-227220400	Weak transcription	Stomach Mucosa	stomach
19	chr1:227207600-227242000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr1:227208800-227222600	Strong transcription	Cortex derived primary cultured neurospheres	brain
21	chr1:227209000-227231000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr1:227209000-227234600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr1:227209000-227272400	Weak transcription	Fetal Intestine Small	intestine
24	chr1:227209200-227301600	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr1:227209800-227222800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr1:227210200-227226400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr1:227210600-227245800	Weak transcription	NHEK	skin
28	chr1:227212200-227223000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr1:227212600-227217000	Strong transcription	Fetal Muscle Leg	muscle
30	chr1:227212600-227217000	Strong transcription	Left Ventricle	heart
31	chr1:227212600-227217200	Strong transcription	Fetal Stomach	stomach
32	chr1:227212600-227217600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr1:227212800-227226400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr1:227213000-227219200	Strong transcription	Liver	Liver
35	chr1:227213200-227222400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr1:227213400-227217400	Strong transcription	HUES64 Cell Line	embryonic stem cell
37	chr1:227213400-227220000	Strong transcription	HUES48 Cell Line	embryonic stem cell
38	chr1:227213600-227217000	Strong transcription	Osteobl	bone
39	chr1:227213600-227217400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr1:227213600-227217400	Strong transcription	K562	blood
41	chr1:227213600-227228000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr1:227213800-227216800	Strong transcription	Brain Cingulate Gyrus	brain
43	chr1:227213800-227217000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr1:227213800-227217600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr1:227213800-227222000	Strong transcription	Duodenum Mucosa	Duodenum
46	chr1:227214000-227216800	Strong transcription	Brain Hippocampus Middle	brain
47	chr1:227214000-227220800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
48	chr1:227214000-227222600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr1:227214200-227216800	Strong transcription	Brain Inferior Temporal Lobe	brain
50	chr1:227214200-227216800	Strong transcription	Fetal Lung	lung

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