Variant report

Variant	rs822527
Chromosome Location	chr1:155738053-155738054
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:155733230..155735390-chr1:155735568..155738519,3	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10908481	0.91[ASN][1000 genomes]
rs10908482	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11264409	0.91[ASN][1000 genomes]
rs11264410	0.96[ASN][1000 genomes]
rs11264413	0.82[ASN][1000 genomes]
rs12040894	0.92[ASN][1000 genomes]
rs12081192	0.90[ASN][1000 genomes]
rs12407800	0.87[ASN][1000 genomes]
rs2297775	1.00[ASN][1000 genomes]
rs28582361	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28662267	0.85[ASN][1000 genomes]
rs2948071	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2948072	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2985707	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4278368	0.92[ASN][1000 genomes]
rs490608	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6427286	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6427287	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs644853	0.81[AFR][1000 genomes]
rs6657670	0.82[ASN][1000 genomes]
rs6662953	0.91[ASN][1000 genomes]
rs6665227	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs708611	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7541060	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7550402	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs821551	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs822025	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs860295	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9426933	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529709	chr1:155154933-155757219	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	450 gene(s)	inside rSNPs	diseases
2	esv33869	chr1:155223283-155917961	Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
3	nsv428246	chr1:155558197-155785831	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	esv3423892	chr1:155664084-155901487	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs822527	RIT1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155715400-155739200	Weak transcription	Fetal Heart	heart
2	chr1:155715400-155789200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:155715600-155764600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr1:155716000-155793400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr1:155716600-155781800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:155717200-155761000	Strong transcription	Fetal Stomach	stomach
7	chr1:155717400-155795800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr1:155717600-155750200	Strong transcription	Primary T helper cells PMA-I stimulated	--
9	chr1:155720200-155745400	Strong transcription	Fetal Muscle Leg	muscle
10	chr1:155720200-155748600	Strong transcription	HUES48 Cell Line	embryonic stem cell
11	chr1:155720200-155748800	Strong transcription	Duodenum Mucosa	Duodenum
12	chr1:155720200-155748800	Strong transcription	Rectal Mucosa Donor 29	rectum
13	chr1:155720200-155749000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr1:155720200-155749600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr1:155720200-155750200	Strong transcription	Primary T cells from cord blood	blood
16	chr1:155720200-155750600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
17	chr1:155720200-155755800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr1:155720200-155756200	Strong transcription	Primary T helper cells fromperipheralblood	blood
19	chr1:155720200-155756600	Strong transcription	HUES6 Cell Line	embryonic stem cell
20	chr1:155720200-155798200	Strong transcription	Fetal Thymus	thymus
21	chr1:155720200-155803600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr1:155720400-155743200	Strong transcription	Stomach Smooth Muscle	stomach
23	chr1:155720400-155743200	Strong transcription	Thymus	Thymus
24	chr1:155720400-155750200	Strong transcription	Adipose Nuclei	Adipose
25	chr1:155720400-155750400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr1:155720400-155750600	Strong transcription	Dnd41	blood
27	chr1:155720400-155755600	Strong transcription	Placenta	Placenta
28	chr1:155720400-155756400	Strong transcription	Liver	Liver
29	chr1:155720400-155760800	Strong transcription	Primary T cells fromperipheralblood	blood
30	chr1:155720400-155796800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr1:155720600-155743200	Strong transcription	Fetal Brain Female	brain
32	chr1:155720600-155743600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr1:155720600-155757200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr1:155720800-155741800	Strong transcription	Cortex derived primary cultured neurospheres	brain
35	chr1:155720800-155742800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr1:155720800-155743000	Strong transcription	H9 Cell Line	embryonic stem cell
37	chr1:155720800-155747600	Strong transcription	Fetal Muscle Trunk	muscle
38	chr1:155720800-155749000	Strong transcription	HUES64 Cell Line	embryonic stem cell
39	chr1:155721000-155748800	Strong transcription	Skeletal Muscle Female	skeletal muscle
40	chr1:155722800-155740800	Strong transcription	Fetal Kidney	kidney
41	chr1:155725000-155748600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr1:155725200-155740200	Strong transcription	Primary T killer memory cells from peripheral blood	blood
43	chr1:155726000-155743000	Strong transcription	Lung	lung
44	chr1:155726000-155747400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr1:155727200-155754200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr1:155728600-155747600	Strong transcription	Brain Inferior Temporal Lobe	brain
47	chr1:155729400-155747600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
48	chr1:155730400-155764200	Weak transcription	Psoas Muscle	Psoas
49	chr1:155730800-155748000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
50	chr1:155731000-155748800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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