Variant report

Variant	rs3811567
Chromosome Location	chr2:153572156-153572157
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr2:153572154-153572900	HCT-116	colon:	n/a	n/a
2	POLR2A	chr2:153572082-153572217	MCF10A-Er-Src	breast:	n/a	n/a
3	IRF1	chr2:153571820-153572628	K562	blood:	n/a	chr2:153572210-153572222 chr2:153572486-153572500
4	SREBP1	chr2:153570771-153575432	GM12878	blood:	n/a	n/a
5	MAFK	chr2:153571350-153572195	GM12878	blood:	n/a	chr2:153571817-153571831 chr2:153571814-153571834 chr2:153571820-153571830 chr2:153571821-153571830 chr2:153571819-153571834 chr2:153571822-153571836
6	CTCF	chr2:153571731-153576009	A549	lung:	n/a	chr2:153573370-153573388

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:153031056..153034207-chr2:153571978..153575897,4	K562	blood:

Variant related genes	Relation type
ARL6IP6	TF binding region
ENSG00000115145	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs12621715	0.89[JPT][hapmap];1.00[YRI][hapmap]
rs16831556	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.94[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17400645	0.82[CHB][hapmap]
rs1962313	0.82[CHB][hapmap]
rs1986743	0.82[CHB][hapmap]
rs2346537	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2346543	0.82[CHB][hapmap]
rs4233660	0.82[CHB][hapmap]
rs4267470	0.82[CHB][hapmap]
rs4664605	0.82[CHB][hapmap]
rs4664606	0.82[CHB][hapmap]
rs4664610	0.82[CHB][hapmap]
rs4664611	0.85[CEU][hapmap];0.95[CHB][hapmap];0.85[JPT][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6744923	0.86[CHB][hapmap]
rs6748160	0.81[CHB][hapmap]
rs7599946	0.82[CHB][hapmap]
rs7608603	0.81[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834421	chr2:153470109-153664235	Strong transcription Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	esv3693438	chr2:153505376-153718246	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3811567	NMI	cis	parietal	SCAN

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153533800-153572600	Weak transcription	Fetal Brain Male	brain
2	chr2:153536000-153572600	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr2:153539600-153572400	Weak transcription	Brain Angular Gyrus	brain
4	chr2:153539600-153572400	Weak transcription	Pancreas	Pancrea
5	chr2:153551200-153572400	Weak transcription	Rectal Smooth Muscle	rectum
6	chr2:153557800-153572200	Strong transcription	Fetal Thymus	thymus
7	chr2:153558200-153573000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:153558600-153572400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr2:153558600-153572400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr2:153558600-153572400	Weak transcription	Stomach Smooth Muscle	stomach
11	chr2:153558600-153572400	Weak transcription	NHLF	lung
12	chr2:153558800-153572400	Weak transcription	Esophagus	oesophagus
13	chr2:153558800-153573000	Weak transcription	Aorta	Aorta
14	chr2:153558800-153573200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr2:153558800-153573400	Weak transcription	Spleen	Spleen
16	chr2:153559400-153572400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr2:153562000-153572400	Weak transcription	Right Atrium	heart
18	chr2:153563400-153572400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr2:153563800-153572400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr2:153565200-153572200	Strong transcription	H1 Cell Line	embryonic stem cell
21	chr2:153565600-153572400	Weak transcription	Left Ventricle	heart
22	chr2:153566000-153572400	Weak transcription	Colonic Mucosa	Colon
23	chr2:153566000-153572400	Weak transcription	Right Ventricle	heart
24	chr2:153566400-153572400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr2:153566600-153572400	Weak transcription	Thymus	Thymus
26	chr2:153566800-153572200	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr2:153566800-153572400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr2:153566800-153573400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr2:153567400-153572400	Weak transcription	Fetal Stomach	stomach
30	chr2:153567800-153572400	Weak transcription	Colon Smooth Muscle	Colon
31	chr2:153568600-153572200	Genic enhancers	Primary T helper cells fromperipheralblood	blood
32	chr2:153568800-153572400	Weak transcription	Psoas Muscle	Psoas
33	chr2:153568800-153573200	Weak transcription	Lung	lung
34	chr2:153569400-153572400	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr2:153569600-153572400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr2:153570000-153572200	Genic enhancers	Hela-S3	cervix
37	chr2:153570000-153572400	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr2:153570400-153572200	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr2:153570400-153572400	Weak transcription	Fetal Muscle Leg	muscle
40	chr2:153570600-153572400	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr2:153570800-153572400	Enhancers	Primary T killer memory cells from peripheral blood	blood
42	chr2:153570800-153572400	Weak transcription	Fetal Kidney	kidney
43	chr2:153570800-153572400	Genic enhancers	NHDF-Ad	bronchial
44	chr2:153571000-153572400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
45	chr2:153571000-153572400	Enhancers	Pancreatic Islets	Pancreatic Islet
46	chr2:153571000-153572600	Enhancers	Primary T helper naive cells from peripheral blood	blood
47	chr2:153571000-153572600	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
48	chr2:153571000-153572800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
49	chr2:153571200-153572200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr2:153571200-153572400	Enhancers	Primary T killer naive cells fromperipheralblood	blood

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