Variant report

Variant	rs16831841
Chromosome Location	chr2:190526123-190526124
allele	A/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	RAD21	chr2:190525607-190526554	HCT-116	colon:	n/a	chr2:190525987-190526006 chr2:190526405-190526418 chr2:190525908-190525927 chr2:190526407-190526419
2	SP1	chr2:190525611-190526423	A549	lung:	n/a	n/a
3	POLR2A	chr2:190525940-190526497	HepG2	liver:	n/a	n/a
4	FOXA2	chr2:190525720-190526348	A549	lung:	n/a	n/a
5	TFAP2A	chr2:190525992-190526554	Hela-S3	cervix:	n/a	chr2:190526073-190526085
6	POLR2A	chr2:190525969-190526587	GM12878	blood:	n/a	n/a
7	RCOR1	chr2:190525808-190526841	HepG2	liver:	n/a	n/a
8	RAD21	chr2:190525721-190526175	ECC-1	luminal epithelium:	n/a	chr2:190525987-190526006 chr2:190525908-190525927
9	POLR2A	chr2:190525882-190526587	HL-60	blood:	n/a	n/a
10	MAX	chr2:190525575-190526490	A549	lung:	n/a	n/a
11	CTCF	chr2:190525797-190526125	SK-N-SH_RA	brain:	n/a	chr2:190525909-190525930 chr2:190525908-190525924 chr2:190525986-190526004 chr2:190525907-190525925 chr2:190525910-190525923 chr2:190525988-190526009
12	POLR2A	chr2:190525832-190526421	HUVEC	blood vessel:	n/a	n/a
13	MXI1	chr2:190525758-190527234	GM12878	blood:	n/a	n/a
14	HEY1	chr2:190526039-190526420	K562	blood:	n/a	n/a
15	CTCF	chr2:190525781-190526129	Pancreas_OC	pancreas:	n/a	chr2:190525909-190525930 chr2:190525908-190525924 chr2:190525986-190526004 chr2:190525907-190525925 chr2:190525910-190525923 chr2:190525988-190526009
16	POLR2A	chr2:190525788-190526472	PANC-1	pancreas:	n/a	n/a
17	FOXM1	chr2:190525666-190526238	GM12878	blood:	n/a	n/a
18	POLR2A	chr2:190525804-190526622	H1-neurons	neurons:	n/a	n/a
19	JUND	chr2:190525776-190526420	K562	blood:	n/a	n/a
20	JUND	chr2:190525764-190526410	H1-hESC	embryonic stem cell:	n/a	n/a
21	CTCF	chr2:190525698-190526393	GM12878	blood:	n/a	chr2:190525909-190525930 chr2:190525908-190525924 chr2:190525986-190526004 chr2:190525907-190525925 chr2:190525910-190525923 chr2:190525988-190526009
22	HEY1	chr2:190526014-190526398	K562	blood:	n/a	n/a
23	TAF1	chr2:190525932-190526538	H1-neurons	neurons:	n/a	n/a
24	POLR2A	chr2:190525719-190526474	SK-N-SH	brain:	n/a	n/a
25	RFX5	chr2:190525779-190526408	Hela-S3	cervix:	n/a	n/a
26	PAX5	chr2:190525854-190526417	GM12878	blood:	n/a	n/a
27	CTCF	chr2:190525871-190526128	NHEK	skin:	n/a	chr2:190525909-190525930 chr2:190525908-190525924 chr2:190525986-190526004 chr2:190525907-190525925 chr2:190525910-190525923 chr2:190525988-190526009
28	POLR2A	chr2:190525945-190526452	ECC-1	luminal epithelium:	n/a	n/a
29	YY1	chr2:190525872-190526361	GM12891	blood:	n/a	n/a
30	MYC	chr2:190526028-190526496	MCF-7	breast:	n/a	n/a
31	POLR2A	chr2:190525994-190526426	Hela-S3	cervix:	n/a	n/a
32	MAFF	chr2:190525793-190526431	HepG2	liver:	n/a	n/a
33	ARID3A	chr2:190525674-190526357	HepG2	liver:	n/a	n/a
34	RAD21	chr2:190525755-190526220	HepG2	liver:	n/a	chr2:190525987-190526006 chr2:190525908-190525927
35	YY1	chr2:190525964-190526458	GM12892	blood:	n/a	n/a
36	REST	chr2:190526006-190526342	SK-N-SH	brain:	n/a	chr2:190526273-190526282
37	MYC	chr2:190526010-190526490	MCF-7	breast:	n/a	n/a
38	CHD2	chr2:190525786-190526467	HepG2	liver:	n/a	n/a
39	POLR2A	chr2:190525765-190526521	HCT-116	colon:	n/a	n/a
40	MAX	chr2:190525826-190526569	GM12878	blood:	n/a	chr2:190526556-190526567
41	ZBTB33	chr2:190525751-190526381	A549	lung:	n/a	chr2:190526132-190526147
42	TEAD4	chr2:190525712-190526140	H1-hESC	embryonic stem cell:	n/a	n/a
43	REST	chr2:190525994-190526363	A549	lung:	n/a	chr2:190526273-190526282
44	RCOR1	chr2:190525836-190526950	GM12878	blood:	n/a	n/a
45	SMC3	chr2:190525640-190526459	GM12878	blood:	n/a	chr2:190525909-190525923 chr2:190525988-190526002
46	GTF2F1	chr2:190525847-190526354	H1-hESC	embryonic stem cell:	n/a	n/a
47	E2F6	chr2:190525873-190526647	H1-hESC	embryonic stem cell:	n/a	chr2:190526064-190526071 chr2:190526063-190526072 chr2:190526064-190526071 chr2:190526064-190526071 chr2:190526058-190526067 chr2:190526141-190526148 chr2:190526141-190526148 chr2:190526097-190526106 chr2:190526141-190526148 chr2:190526174-190526183
48	SIN3A	chr2:190525732-190526993	H1-hESC	embryonic stem cell:	n/a	n/a
49	MAX	chr2:190525803-190526598	Hela-S3	cervix:	n/a	chr2:190526556-190526567
50	ATF2	chr2:190525708-190526563	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:190524918..190527666-chr2:190648010..190650648,4	MCF-7	breast:
2	chr2:190525941..190528751-chr2:190627393..190630465,6	K562	blood:
3	chr2:190524928..190526526-chr2:190626361..190628930,2	MCF-7	breast:
4	chr2:190523468..190528374-chr2:190647262..190651485,5	K562	blood:
5	chr13:103498331..103498914-chr2:190525898..190526561,2	NB4	blood:
6	chr2:190443338..190447714-chr2:190524367..190527732,5	K562	blood:
7	chr2:190524327..190528986-chr2:190625993..190629803,6	K562	blood:
8	chr2:190525525..190526412-chr2:190538733..190539795,4	MCF-7	breast:
9	chr2:190524324..190528374-chr2:190645867..190651485,5	K562	blood:
10	chr2:190525678..190527961-chr2:190541592..190544569,2	K562	blood:

Variant related genes	Relation type
ASNSD1	TF binding region
ENSG00000134899	Chromatin interaction
ENSG00000273240	Chromatin interaction
ENSG00000064933	Chromatin interaction
ENSG00000151687	Chromatin interaction
ENSG00000128699	Chromatin interaction
ENSG00000128694	Chromatin interaction
ENSG00000253559	Chromatin interaction
ENSG00000138449	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1233264	0.85[EUR][1000 genomes]
rs12622938	1.00[EUR][1000 genomes]
rs16831880	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16831887	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16831909	0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16831964	0.85[EUR][1000 genomes]
rs16832035	0.85[EUR][1000 genomes]
rs17199060	0.85[EUR][1000 genomes]
rs34250747	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3791769	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3791772	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4666785	0.85[EUR][1000 genomes]
rs4667307	0.82[EUR][1000 genomes]
rs5742959	0.85[EUR][1000 genomes]
rs5742960	0.85[EUR][1000 genomes]
rs5743002	0.85[EUR][1000 genomes]
rs5743006	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs5743010	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs5743022	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533029	chr2:189812229-190554339	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs16831841	ORMDL1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190520200-190526200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr2:190522800-190526200	Weak transcription	Right Atrium	heart
3	chr2:190523200-190526200	Weak transcription	Fetal Heart	heart
4	chr2:190523400-190526200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr2:190523400-190526200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr2:190523600-190526200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr2:190523600-190526200	Weak transcription	Fetal Lung	lung
8	chr2:190524000-190526200	Weak transcription	Stomach Mucosa	stomach
9	chr2:190525400-190526200	Active TSS	Primary hematopoietic stem cells	blood
10	chr2:190525600-190526200	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr2:190525600-190526600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr2:190525600-190526800	Active TSS	Breast Myoepithelial Primary Cells	Breast
13	chr2:190525600-190526800	Active TSS	Fetal Brain Male	brain
14	chr2:190525600-190526800	Active TSS	Thymus	Thymus
15	chr2:190525600-190527000	Active TSS	NHEK	skin
16	chr2:190525600-190527200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr2:190525600-190527200	Active TSS	NHLF	lung
18	chr2:190525600-190527400	Active TSS	HUES48 Cell Line	embryonic stem cell
19	chr2:190525600-190527400	Active TSS	HUES64 Cell Line	embryonic stem cell
20	chr2:190525600-190527600	Active TSS	HUES6 Cell Line	embryonic stem cell
21	chr2:190525600-190527800	Active TSS	HMEC	breast
22	chr2:190525600-190529800	Active TSS	GM12878-XiMat	blood
23	chr2:190525800-190526200	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
24	chr2:190525800-190526200	Active TSS	HepG2	liver
25	chr2:190525800-190526600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr2:190525800-190526600	Active TSS	Brain Cingulate Gyrus	brain
27	chr2:190525800-190526800	Active TSS	H1 Cell Line	embryonic stem cell
28	chr2:190525800-190526800	Active TSS	Stomach Smooth Muscle	stomach
29	chr2:190525800-190526800	Active TSS	Dnd41	blood
30	chr2:190525800-190526800	Active TSS	Osteobl	bone
31	chr2:190525800-190527000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
32	chr2:190525800-190527000	Active TSS	NHDF-Ad	bronchial
33	chr2:190525800-190527200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr2:190525800-190527200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr2:190525800-190527200	Active TSS	A549	lung
36	chr2:190525800-190527600	Active TSS	Fetal Kidney	kidney
37	chr2:190525800-190527800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr2:190526000-190526200	Active TSS	Primary monocytes fromperipheralblood	blood
39	chr2:190526000-190526200	Active TSS	Primary hematopoietic stem cells short term culture	blood
40	chr2:190526000-190526200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr2:190526000-190526200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
42	chr2:190526000-190526200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
43	chr2:190526000-190526200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr2:190526000-190526200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr2:190526000-190526200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr2:190526000-190526200	Active TSS	Skeletal Muscle Female	skeletal muscle
47	chr2:190526000-190526400	Active TSS	Primary neutrophils fromperipheralblood	blood
48	chr2:190526000-190526400	Active TSS	Primary B cells from cord blood	blood
49	chr2:190526000-190526400	Active TSS	Primary T cells from cord blood	blood
50	chr2:190526000-190526400	Active TSS	Primary T cells fromperipheralblood	blood

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