Variant report

Variant	rs4951441
Chromosome Location	chr1:212416474-212416475
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CBX3	chr1:212414891-212416492	K562	blood:	n/a	n/a
2	ZMIZ1	chr1:212415568-212416487	K562	blood:	n/a	n/a
3	BHLHE40	chr1:212415556-212416629	K562	blood:	n/a	n/a
4	CHD2	chr1:212416328-212416517	K562	blood:	n/a	n/a
5	CCNT2	chr1:212416251-212416629	K562	blood:	n/a	n/a
6	NR2F2	chr1:212414857-212416772	K562	blood:	n/a	chr1:212414878-212414893
7	MYC	chr1:212415584-212416518	K562	blood:	n/a	n/a
8	ZC3H11A	chr1:212416224-212416591	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:212413989..212416642-chr1:212457205..212458849,2	K562	blood:
2	chr1:212413271..212416807-chr1:212458908..212461742,4	K562	blood:
3	chr1:212416179..212418074-chr1:212422362..212425881,3	K562	blood:
4	chr1:212385419..212387445-chr1:212414285..212417488,3	K562	blood:
5	chr1:212414204..212417772-chr1:212418799..212421886,6	K562	blood:

No data

Variant related genes	Relation type
ENSG00000226251	TF binding region

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1565737	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs168438	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2492746	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs351374	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs351376	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs351385	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs351387	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs351388	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4951583	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];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	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
4	nsv997629	chr1:212404489-212658785	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
5	nsv535286	chr1:212404489-212658785	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4951441	C1orf75	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212410200-212417000	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr1:212412200-212417400	Weak transcription	Fetal Muscle Trunk	muscle
3	chr1:212412200-212417400	Weak transcription	GM12878-XiMat	blood
4	chr1:212412400-212417800	Weak transcription	Fetal Muscle Leg	muscle
5	chr1:212412400-212420600	Weak transcription	Fetal Lung	lung
6	chr1:212413200-212420200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr1:212414600-212416600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr1:212414800-212416600	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr1:212414800-212416800	Enhancers	Liver	Liver
10	chr1:212415000-212416600	Flanking Active TSS	K562	blood
11	chr1:212415200-212416600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr1:212415200-212419800	Weak transcription	Spleen	Spleen
13	chr1:212415200-212420400	Weak transcription	Fetal Heart	heart
14	chr1:212415200-212420800	Weak transcription	Fetal Intestine Small	intestine
15	chr1:212415400-212416600	Enhancers	Fetal Intestine Large	intestine
16	chr1:212415400-212417200	Enhancers	Stomach Mucosa	stomach
17	chr1:212415600-212416600	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr1:212415600-212416600	Flanking Active TSS	Rectal Smooth Muscle	rectum
19	chr1:212415600-212416800	Enhancers	Pancreatic Islets	Pancreatic Islet
20	chr1:212416000-212416600	Enhancers	Brain Anterior Caudate	brain
21	chr1:212416000-212416600	Enhancers	Brain Substantia Nigra	brain
22	chr1:212416000-212416600	Enhancers	Left Ventricle	heart
23	chr1:212416000-212416600	Enhancers	Right Atrium	heart
24	chr1:212416000-212416600	Enhancers	Right Ventricle	heart
25	chr1:212416000-212416800	Enhancers	Duodenum Smooth Muscle	Duodenum
26	chr1:212416000-212417400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr1:212416000-212418200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr1:212416000-212420600	Weak transcription	Osteobl	bone
29	chr1:212416200-212416600	Enhancers	Esophagus	oesophagus
30	chr1:212416200-212416600	Enhancers	Fetal Stomach	stomach
31	chr1:212416200-212416800	Enhancers	Adipose Nuclei	Adipose
32	chr1:212416200-212417400	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr1:212416200-212420600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr1:212416400-212416600	Flanking Active TSS	Colon Smooth Muscle	Colon
35	chr1:212416400-212416600	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr1:212416400-212416600	Enhancers	Stomach Smooth Muscle	stomach
37	chr1:212416400-212416800	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr1:212416400-212417000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
39	chr1:212416400-212420200	Weak transcription	HUVEC	blood vessel
40	chr1:212416400-212420600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr1:212416400-212420600	Weak transcription	Lung	lung
42	chr1:212416400-212420600	Enhancers	HepG2	liver
43	chr1:212416400-212421400	Weak transcription	Psoas Muscle	Psoas

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