Variant report

Variant	rs792444
Chromosome Location	chr1:212552190-212552191
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	chr1:212550848..212553114-chr1:212586010..212588532,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000065600	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs351390	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs351392	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs351418	0.84[EUR][1000 genomes]
rs376245	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3767864	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4951444	0.81[ASN][1000 genomes]
rs6668646	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs701906	0.88[AFR][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	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
2	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
3	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
4	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
5	esv3418305	chr1:212549129-212552427	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs792444	C1orf75	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212489600-212554800	Weak transcription	Small Intestine	intestine
2	chr1:212502600-212563400	Strong transcription	Primary monocytes fromperipheralblood	blood
3	chr1:212502600-212564600	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr1:212524400-212554600	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr1:212526800-212582800	Weak transcription	Fetal Brain Male	brain
6	chr1:212528400-212583000	Weak transcription	Fetal Kidney	kidney
7	chr1:212529400-212562400	Strong transcription	Dnd41	blood
8	chr1:212529800-212563200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr1:212530200-212552600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:212532400-212560200	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr1:212533400-212557000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr1:212533800-212552800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr1:212534000-212558200	Weak transcription	Rectal Smooth Muscle	rectum
14	chr1:212534000-212570200	Weak transcription	HSMM	muscle
15	chr1:212534400-212570600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr1:212534600-212560000	Weak transcription	Colon Smooth Muscle	Colon
17	chr1:212535000-212552800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr1:212535000-212561400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr1:212535200-212560200	Weak transcription	Hela-S3	cervix
20	chr1:212536200-212561600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr1:212536600-212552800	Weak transcription	HMEC	breast
22	chr1:212538000-212571000	Weak transcription	NH-A	brain
23	chr1:212538200-212559600	Weak transcription	Right Atrium	heart
24	chr1:212540400-212575400	Weak transcription	HUVEC	blood vessel
25	chr1:212540600-212562600	Weak transcription	Osteobl	bone
26	chr1:212540600-212564000	Weak transcription	Stomach Mucosa	stomach
27	chr1:212540800-212556800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr1:212542800-212561600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr1:212543600-212565200	Weak transcription	Fetal Lung	lung
30	chr1:212545000-212561000	Strong transcription	HUES64 Cell Line	embryonic stem cell
31	chr1:212546600-212553800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr1:212546800-212554400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
33	chr1:212546800-212560200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr1:212546800-212560400	Strong transcription	Primary T helper cells PMA-I stimulated	--
35	chr1:212547000-212553200	Strong transcription	K562	blood
36	chr1:212547000-212553400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr1:212547000-212553600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
38	chr1:212547000-212553600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr1:212547000-212553800	Strong transcription	Primary hematopoietic stem cells	blood
40	chr1:212547000-212562600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr1:212547000-212563400	Strong transcription	Fetal Thymus	thymus
42	chr1:212547200-212561000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr1:212547400-212562400	Strong transcription	HUES48 Cell Line	embryonic stem cell
44	chr1:212547400-212562400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr1:212548200-212560600	Strong transcription	Primary T helper cells fromperipheralblood	blood
46	chr1:212548400-212553600	Strong transcription	Primary B cells from cord blood	blood
47	chr1:212548600-212553400	Strong transcription	Primary T cells fromperipheralblood	blood
48	chr1:212548600-212553600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr1:212548600-212553800	Strong transcription	H1 Cell Line	embryonic stem cell
50	chr1:212548600-212563800	Strong transcription	Primary T cells from cord blood	blood

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