Variant report

Variant	rs67401267
Chromosome Location	chr22:30750209-30750210
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr22:30750204-30750247	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr22:30750048-30751795	GM12878	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:30748063..30751052-chr22:30756831..30759768,2	K562	blood:
2	chr22:30693312..30695019-chr22:30749879..30751437,2	MCF-7	breast:
3	chr22:30722006..30725049-chr22:30749886..30754508,5	K562	blood:
4	chr22:30679588..30687274-chr22:30748772..30756086,11	MCF-7	breast:
5	chr22:30719395..30724233-chr22:30750032..30754717,7	MCF-7	breast:
6	chr22:30739118..30741512-chr22:30747633..30750264,2	MCF-7	breast:
7	chr22:30750108..30752468-chr22:30775828..30777865,2	MCF-7	breast:

No data

Variant related genes	Relation type
CCDC157	TF binding region
ENSG00000099992	Chromatin interaction
ENSG00000239282	Chromatin interaction
ENSG00000099995	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs13056562	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13058084	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13058399	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13058535	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17730748	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17738020	1.00[ASN][1000 genomes]
rs34102711	1.00[ASN][1000 genomes]
rs34318316	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34911581	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34964064	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35074129	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs35246430	1.00[ASN][1000 genomes]
rs35617977	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs35960997	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4449240	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4820002	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4820834	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4820840	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4823086	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4823087	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68042293	1.00[ASN][1000 genomes]
rs73168654	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829171	chr22:30598030-31043578	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv914970	chr22:30619599-30850395	Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv3593	chr22:30705980-30751122	Genic enhancers Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv915818	chr22:30708245-31346302	Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
5	nsv1066179	chr22:30724148-30766466	Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs67401267	RP1-130H16.16	cis	Thyroid	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30723600-30751600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr22:30726600-30750400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr22:30726600-30750400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr22:30726600-30750400	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr22:30726600-30750600	Strong transcription	H9 Cell Line	embryonic stem cell
6	chr22:30726600-30750600	Strong transcription	HUES6 Cell Line	embryonic stem cell
7	chr22:30726600-30750800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
8	chr22:30726600-30750800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
9	chr22:30726800-30750600	Strong transcription	H1 Cell Line	embryonic stem cell
10	chr22:30726800-30750800	Strong transcription	HUES48 Cell Line	embryonic stem cell
11	chr22:30730000-30750400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr22:30730000-30750600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
13	chr22:30730200-30750400	Strong transcription	Rectal Mucosa Donor 29	rectum
14	chr22:30738400-30750800	Strong transcription	Fetal Muscle Trunk	muscle
15	chr22:30738600-30750600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr22:30740600-30750400	Genic enhancers	Primary T helper cells fromperipheralblood	blood
17	chr22:30742400-30751200	Weak transcription	Psoas Muscle	Psoas
18	chr22:30742600-30751600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr22:30743200-30751000	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
20	chr22:30743400-30750600	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
21	chr22:30745200-30750400	Weak transcription	Fetal Kidney	kidney
22	chr22:30746200-30750800	Genic enhancers	Primary T cells fromperipheralblood	blood
23	chr22:30746400-30750400	Strong transcription	NHEK	skin
24	chr22:30747000-30750400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr22:30747400-30750600	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr22:30747600-30750400	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
27	chr22:30747800-30750600	Genic enhancers	HepG2	liver
28	chr22:30748000-30750800	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
29	chr22:30748000-30751200	Genic enhancers	Dnd41	blood
30	chr22:30748600-30751000	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
31	chr22:30748800-30751200	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr22:30748800-30752000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr22:30749000-30750400	Weak transcription	Stomach Mucosa	stomach
34	chr22:30749000-30750800	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
35	chr22:30749000-30750800	Genic enhancers	Skeletal Muscle Male	skeletal muscle
36	chr22:30749000-30751000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr22:30749000-30751000	Enhancers	Ovary	ovary
38	chr22:30749000-30751000	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr22:30749000-30751200	Weak transcription	Fetal Brain Male	brain
40	chr22:30749000-30751400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr22:30749000-30751400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr22:30749000-30751800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr22:30749000-30752000	Weak transcription	Aorta	Aorta
44	chr22:30749200-30750600	Weak transcription	Primary hematopoietic stem cells	blood
45	chr22:30749200-30750600	Weak transcription	Colonic Mucosa	Colon
46	chr22:30749200-30750800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr22:30749200-30752000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr22:30749400-30750400	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr22:30749800-30750400	Enhancers	Brain Anterior Caudate	brain
50	chr22:30749800-30750600	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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