Variant report

Variant	rs1565737
Chromosome Location	chr1:212409891-212409892
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:212408314..212411280-chr1:212781747..212784026,2	K562	blood:

Variant related genes	Relation type
ENSG00000162772	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs168438	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2492746	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs351374	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs351376	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs351385	0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs351387	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs351388	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4951441	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]
rs4951583	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4951584	0.92[JPT][hapmap]

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
rs1565737	C1orf75	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212404800-212410800	Enhancers	Skeletal Muscle Male	skeletal muscle
2	chr1:212405200-212410600	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr1:212405600-212414800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr1:212405600-212416400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr1:212406400-212411000	Enhancers	HSMMtube	muscle
6	chr1:212406600-212410800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr1:212406800-212410400	Enhancers	HSMM	muscle
8	chr1:212406800-212410600	Enhancers	Stomach Mucosa	stomach
9	chr1:212407200-212410400	Enhancers	Left Ventricle	heart
10	chr1:212407600-212410000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr1:212407600-212412400	Enhancers	Duodenum Mucosa	Duodenum
12	chr1:212407800-212410400	Enhancers	Sigmoid Colon	Sigmoid Colon
13	chr1:212407800-212412800	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr1:212408000-212410600	Enhancers	Fetal Heart	heart
15	chr1:212408000-212411600	Weak transcription	Fetal Muscle Trunk	muscle
16	chr1:212408000-212411800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr1:212408000-212413000	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr1:212408200-212415400	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr1:212408400-212410200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr1:212408400-212411600	Weak transcription	Primary hematopoietic stem cells	blood
21	chr1:212408400-212415600	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr1:212408600-212410200	Weak transcription	HepG2	liver
23	chr1:212408600-212410400	Weak transcription	HMEC	breast
24	chr1:212408600-212410800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr1:212408600-212410800	Weak transcription	GM12878-XiMat	blood
26	chr1:212408600-212411000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr1:212408600-212411000	Weak transcription	NHDF-Ad	bronchial
28	chr1:212408600-212411200	Weak transcription	A549	lung
29	chr1:212408600-212411600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr1:212408600-212411600	Weak transcription	Adipose Nuclei	Adipose
31	chr1:212408600-212411600	Weak transcription	Brain Anterior Caudate	brain
32	chr1:212408600-212411600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr1:212408600-212411600	Weak transcription	Colon Smooth Muscle	Colon
34	chr1:212408600-212411600	Weak transcription	Rectal Smooth Muscle	rectum
35	chr1:212408600-212411600	Weak transcription	Spleen	Spleen
36	chr1:212408600-212411600	Weak transcription	HUVEC	blood vessel
37	chr1:212408600-212411800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr1:212408600-212411800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr1:212408600-212412000	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr1:212408600-212414800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr1:212408600-212415000	Enhancers	K562	blood
42	chr1:212408600-212416000	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr1:212408600-212416200	Weak transcription	Fetal Stomach	stomach
44	chr1:212408800-212411200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr1:212408800-212411600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr1:212408800-212411600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr1:212408800-212411600	Weak transcription	Stomach Smooth Muscle	stomach
48	chr1:212409000-212410000	Enhancers	Esophagus	oesophagus
49	chr1:212409000-212411800	Enhancers	Rectal Mucosa Donor 29	rectum
50	chr1:212409000-212413000	Enhancers	Fetal Intestine Small	intestine

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