Variant report

Variant	rs17627068
Chromosome Location	chr7:128102892-128102893
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	PAX5	chr7:128102887-128103352	GM12878	blood:	n/a	n/a
2	PAX5	chr7:128102851-128103256	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:128098205..128100109-chr7:128100150..128103100,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000272601	TF binding region

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

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1048531	0.90[ASN][1000 genomes]
rs12535956	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2288554	0.89[ASN][1000 genomes]
rs4500030	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4728114	0.89[ASN][1000 genomes]
rs59027033	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59665775	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61310483	0.82[AMR][1000 genomes]
rs62481131	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62481140	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62481159	0.81[AMR][1000 genomes]
rs73463119	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][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	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
3	nsv981577	chr7:128102655-128107081	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs17627068	RP11-274B21.2	cis	Skin Sun Exposed Lower leg	GTEx
rs17627068	RP11-274B21.4	cis	Nerve Tibial	GTEx

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128096400-128116400	Weak transcription	Lung	lung
2	chr7:128097400-128103400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:128097400-128107800	Weak transcription	Spleen	Spleen
4	chr7:128097600-128116200	Weak transcription	Fetal Kidney	kidney
5	chr7:128097600-128116200	Weak transcription	Left Ventricle	heart
6	chr7:128097800-128116400	Weak transcription	Fetal Stomach	stomach
7	chr7:128097800-128116400	Weak transcription	Gastric	stomach
8	chr7:128097800-128116400	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr7:128098200-128116400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr7:128098200-128116400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr7:128098400-128108000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr7:128098600-128104800	Weak transcription	Osteobl	bone
13	chr7:128098600-128116200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr7:128098800-128108200	Weak transcription	Fetal Muscle Leg	muscle
15	chr7:128099000-128116200	Weak transcription	Fetal Muscle Trunk	muscle
16	chr7:128099000-128116400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr7:128099200-128116400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr7:128099400-128116200	Weak transcription	Primary hematopoietic stem cells	blood
19	chr7:128099400-128116400	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr7:128099800-128103200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr7:128099800-128104800	Weak transcription	Brain Substantia Nigra	brain
22	chr7:128099800-128116200	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr7:128099800-128116200	Weak transcription	Duodenum Mucosa	Duodenum
24	chr7:128099800-128116400	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr7:128099800-128116400	Weak transcription	Fetal Intestine Small	intestine
26	chr7:128099800-128116400	Weak transcription	Ovary	ovary
27	chr7:128100000-128104200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr7:128100000-128108000	Weak transcription	Fetal Brain Female	brain
29	chr7:128100000-128109000	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr7:128100000-128116200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr7:128100000-128116200	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr7:128100000-128116200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr7:128100000-128116400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr7:128100000-128116400	Weak transcription	Brain Hippocampus Middle	brain
35	chr7:128100000-128116400	Weak transcription	Esophagus	oesophagus
36	chr7:128100000-128116400	Weak transcription	Fetal Brain Male	brain
37	chr7:128100200-128108000	Weak transcription	Brain Anterior Caudate	brain
38	chr7:128100200-128108000	Weak transcription	Dnd41	blood
39	chr7:128100200-128116200	Weak transcription	Brain Germinal Matrix	brain
40	chr7:128100200-128116200	Weak transcription	K562	blood
41	chr7:128100400-128108200	Weak transcription	Adipose Nuclei	Adipose
42	chr7:128100400-128116200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr7:128100600-128116200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr7:128101200-128105200	Weak transcription	GM12878-XiMat	blood
45	chr7:128102000-128104600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr7:128102400-128103000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr7:128102400-128103000	Active TSS	Fetal Lung	lung
48	chr7:128102400-128104600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr7:128102600-128103000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
50	chr7:128102600-128103000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell

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