Variant report

Variant	rs59027033
Chromosome Location	chr7:128100708-128100709
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:128094251..128097600-chr7:128097947..128102494,8	K562	blood:
2	chr7:128066135..128077193-chr7:128094256..128102719,54	MCF-7	breast:
3	chr7:128046088..128049904-chr7:128098273..128102609,4	K562	blood:
4	chr7:128082541..128090035-chr7:128090151..128101015,22	MCF-7	breast:
5	chr7:128098205..128100109-chr7:128100150..128103100,2	MCF-7	breast:
6	chr7:128100303..128102263-chr7:128104692..128107673,2	K562	blood:
7	chr7:128070428..128073149-chr7:128099474..128101225,2	K562	blood:

Variant related genes	Relation type
ENSG00000240758	Chromatin interaction
ENSG00000106348	Chromatin interaction
ENSG00000228700	Chromatin interaction
ENSG00000273184	Chromatin interaction
ENSG00000135245	Chromatin interaction
ENSG00000272601	Chromatin interaction
ENSG00000238590	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1048531	0.89[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs12535956	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17627068	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2288554	0.92[ASN][1000 genomes]
rs4500030	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4728114	0.85[ASN][1000 genomes]
rs59665775	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61310483	0.87[AMR][1000 genomes]
rs62481131	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62481140	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62481159	0.85[AMR][1000 genomes]
rs62483279	0.82[AMR][1000 genomes]
rs73463119	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831124	chr7:127970345-128147910	Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
2	nsv608401	chr7:128083454-128108776	Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs59027033	RP11-274B21.4	cis	Nerve Tibial	GTEx
rs59027033	RP11-274B21.2	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128096400-128116400	Weak transcription	Lung	lung
2	chr7:128096800-128101400	Weak transcription	HSMMtube	muscle
3	chr7:128097400-128103400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr7:128097400-128107800	Weak transcription	Spleen	Spleen
5	chr7:128097600-128101800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr7:128097600-128102800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr7:128097600-128116200	Weak transcription	Fetal Kidney	kidney
8	chr7:128097600-128116200	Weak transcription	Left Ventricle	heart
9	chr7:128097800-128102000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr7:128097800-128116400	Weak transcription	Fetal Stomach	stomach
11	chr7:128097800-128116400	Weak transcription	Gastric	stomach
12	chr7:128097800-128116400	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr7:128098200-128102800	Weak transcription	Right Ventricle	heart
14	chr7:128098200-128116400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr7:128098200-128116400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr7:128098400-128101600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr7:128098400-128108000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr7:128098600-128102000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr7:128098600-128102600	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr7:128098600-128104800	Weak transcription	Osteobl	bone
21	chr7:128098600-128116200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr7:128098800-128108200	Weak transcription	Fetal Muscle Leg	muscle
23	chr7:128099000-128102600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr7:128099000-128116200	Weak transcription	Fetal Muscle Trunk	muscle
25	chr7:128099000-128116400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr7:128099200-128102400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr7:128099200-128116400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr7:128099400-128116200	Weak transcription	Primary hematopoietic stem cells	blood
29	chr7:128099400-128116400	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr7:128099800-128102200	Weak transcription	Fetal Heart	heart
31	chr7:128099800-128102600	Weak transcription	NHLF	lung
32	chr7:128099800-128102800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr7:128099800-128102800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr7:128099800-128103200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr7:128099800-128104800	Weak transcription	Brain Substantia Nigra	brain
36	chr7:128099800-128116200	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr7:128099800-128116200	Weak transcription	Duodenum Mucosa	Duodenum
38	chr7:128099800-128116400	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr7:128099800-128116400	Weak transcription	Fetal Intestine Small	intestine
40	chr7:128099800-128116400	Weak transcription	Ovary	ovary
41	chr7:128100000-128102600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr7:128100000-128102800	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr7:128100000-128102800	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr7:128100000-128104200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr7:128100000-128108000	Weak transcription	Fetal Brain Female	brain
46	chr7:128100000-128109000	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr7:128100000-128116200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr7:128100000-128116200	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr7:128100000-128116200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr7:128100000-128116400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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