Variant report

Variant	rs2884512
Chromosome Location	chr1:212403190-212403191
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:32)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:32 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT3	chr1:212403097-212403274	MCF10A-Er-Src	breast:	n/a	n/a
2	MYC	chr1:212403066-212403324	K562	blood:	n/a	n/a
3	E2F4	chr1:212402969-212403267	MCF10A-Er-Src	breast:	n/a	n/a
4	EP300	chr1:212402999-212403289	SK-N-SH_RA	brain:	n/a	n/a
5	EGR1	chr1:212402976-212403333	K562	blood:	n/a	n/a
6	JUND	chr1:212402999-212403375	K562	blood:	n/a	n/a
7	MAX	chr1:212402960-212403299	K562	blood:	n/a	n/a
8	MAZ	chr1:212402950-212403548	IMR90	lung:	n/a	n/a
9	ARID3A	chr1:212403070-212403285	K562	blood:	n/a	n/a
10	MYC	chr1:212402987-212403326	MCF10A-Er-Src	breast:	n/a	n/a
11	RCOR1	chr1:212403043-212403380	K562	blood:	n/a	n/a
12	MYC	chr1:212402971-212403298	MCF10A-Er-Src	breast:	n/a	n/a
13	PBX3	chr1:212403005-212403362	SK-N-SH	brain:	n/a	n/a
14	EGR1	chr1:212402934-212403330	K562	blood:	n/a	n/a
15	MAX	chr1:212403053-212403198	K562	blood:	n/a	n/a
16	STAT3	chr1:212403053-212403237	MCF10A-Er-Src	breast:	n/a	n/a
17	NR2F2	chr1:212402937-212403330	K562	blood:	n/a	n/a
18	TBL1XR1	chr1:212403136-212403295	K562	blood:	n/a	n/a
19	CEBPB	chr1:212402971-212403223	IMR90	lung:	n/a	n/a
20	FOS	chr1:212402990-212403264	MCF10A-Er-Src	breast:	n/a	n/a
21	FOS	chr1:212402998-212403297	MCF10A-Er-Src	breast:	n/a	n/a
22	EP300	chr1:212402974-212403282	SK-N-SH_RA	brain:	n/a	n/a
23	TEAD4	chr1:212402924-212403414	K562	blood:	n/a	n/a
24	JUN	chr1:212403065-212403306	K562	blood:	n/a	n/a
25	TCF12	chr1:212402977-212403500	SK-N-SH	brain:	n/a	n/a
26	MAX	chr1:212403115-212403295	K562	blood:	n/a	n/a
27	MAZ	chr1:212403032-212403231	K562	blood:	n/a	n/a
28	FOS	chr1:212402967-212403298	MCF10A-Er-Src	breast:	n/a	n/a
29	TCF12	chr1:212402904-212403522	SK-N-SH	brain:	n/a	n/a
30	EP300	chr1:212403070-212403311	K562	blood:	n/a	n/a
31	ATF1	chr1:212403039-212403318	K562	blood:	n/a	n/a
32	GATA3	chr1:212402958-212403478	SK-N-SH	brain:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:212401784..212403984-chr1:212456649..212458602,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000226251	TF binding region

Extended variants
information (count: 58 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10863953	0.81[EUR][1000 genomes]
rs10863954	0.82[EUR][1000 genomes]
rs11119879	0.82[EUR][1000 genomes]
rs11119883	0.84[EUR][1000 genomes]
rs11119884	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11119885	0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11119887	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12028026	0.84[EUR][1000 genomes]
rs12073206	0.84[EUR][1000 genomes]
rs12402397	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1389369	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1389370	0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1472226	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1967114	0.82[EUR][1000 genomes]
rs1967116	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1967117	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2001234	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2012917	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2087946	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2307128	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs351373	0.81[ASN][1000 genomes]
rs351377	0.80[ASN][1000 genomes]
rs351378	0.80[ASN][1000 genomes]
rs351379	0.80[ASN][1000 genomes]
rs351386	0.80[ASN][1000 genomes]
rs35209719	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3816912	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4362041	0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4500383	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4558048	0.82[EUR][1000 genomes]
rs4951581	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4951582	0.86[ASN][1000 genomes]
rs6540729	0.83[EUR][1000 genomes]
rs6540731	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6540732	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6540733	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6540734	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6540735	0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6657900	0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6668866	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6679796	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6695681	0.84[EUR][1000 genomes]
rs7511781	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7515645	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7518329	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7519168	0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7530375	0.82[EUR][1000 genomes]
rs7537062	0.84[EUR][1000 genomes]
rs7542973	0.92[ASN][1000 genomes]
rs7544225	0.84[ASN][1000 genomes]
rs7552021	0.83[EUR][1000 genomes]
rs867584	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs903120	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs903121	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs951623	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999738	chr1:212218618-212513690	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1009376	chr1:212292357-212680320	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	nsv549139	chr1:212332294-212876902	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2884512	C1orf75	Cis_1M	lymphoblastoid	RTeQTL
rs2884512	TMEM206	cis	Esophagus Mucosa	GTEx

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212392600-212404800	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr1:212399000-212403200	Enhancers	Fetal Heart	heart
3	chr1:212399400-212405200	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr1:212399600-212403200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr1:212399600-212404000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr1:212399600-212404800	Weak transcription	Fetal Muscle Leg	muscle
7	chr1:212399800-212403200	Weak transcription	Right Ventricle	heart
8	chr1:212399800-212403800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:212399800-212405200	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr1:212399800-212406600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr1:212399800-212407800	Weak transcription	Brain Anterior Caudate	brain
12	chr1:212400000-212404800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr1:212400000-212405000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr1:212400000-212405200	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr1:212400000-212405200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr1:212400000-212405200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr1:212400000-212405200	Weak transcription	Fetal Thymus	thymus
18	chr1:212400000-212407600	Weak transcription	Spleen	Spleen
19	chr1:212400000-212407800	Weak transcription	Right Atrium	heart
20	chr1:212400000-212407800	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr1:212400200-212405400	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr1:212400200-212406800	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr1:212400600-212404200	Enhancers	Pancreas	Pancrea
24	chr1:212401200-212404200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr1:212401400-212403200	Weak transcription	Small Intestine	intestine
26	chr1:212401400-212408400	Weak transcription	Lung	lung
27	chr1:212401600-212403400	Enhancers	Fetal Intestine Large	intestine
28	chr1:212401600-212403400	Enhancers	Fetal Intestine Small	intestine
29	chr1:212401600-212405000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr1:212401800-212409000	Weak transcription	Gastric	stomach
31	chr1:212402400-212403800	Enhancers	HepG2	liver
32	chr1:212402400-212404800	Weak transcription	Left Ventricle	heart
33	chr1:212402400-212407800	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr1:212402600-212403600	Enhancers	Liver	Liver
35	chr1:212402600-212403600	Weak transcription	Duodenum Mucosa	Duodenum
36	chr1:212402800-212403200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr1:212402800-212403600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr1:212402800-212403600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr1:212402800-212405800	Enhancers	Stomach Mucosa	stomach
40	chr1:212403000-212403200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr1:212403000-212403200	Enhancers	NH-A	brain
42	chr1:212403000-212403800	Enhancers	NHDF-Ad	bronchial
43	chr1:212403000-212404000	Enhancers	K562	blood

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