Variant report

Variant	rs60317930
Chromosome Location	chr3:141514387-141514388
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:141512385..141514175-chr3:141514363..141516660,2	MCF-7	breast:
2	chr3:141509966..141511631-chr3:141513470..141515966,2	MCF-7	breast:
3	chr3:141509290..141512769-chr3:141513263..141515246,3	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11542226	0.86[EUR][1000 genomes]
rs1533501	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4588340	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58115387	0.86[EUR][1000 genomes]
rs72982481	0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73000336	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7643689	0.86[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949709	chr3:141295050-142178144	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs60317930	RNF7	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:141510400-141515400	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr3:141511800-141514400	Weak transcription	Duodenum Mucosa	Duodenum
3	chr3:141511800-141514800	Enhancers	Thymus	Thymus
4	chr3:141511800-141515200	Enhancers	Fetal Thymus	thymus
5	chr3:141512600-141514800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr3:141512600-141514800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr3:141512600-141515200	Enhancers	Primary T cells fromperipheralblood	blood
8	chr3:141512600-141515200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr3:141512800-141515200	Enhancers	Primary T cells from cord blood	blood
10	chr3:141512800-141515200	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr3:141512800-141515200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr3:141512800-141515200	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr3:141512800-141515200	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr3:141512800-141515200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr3:141512800-141515200	Enhancers	Primary T killer memory cells from peripheral blood	blood
16	chr3:141512800-141515800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr3:141512800-141516400	Enhancers	Primary hematopoietic stem cells	blood
18	chr3:141513000-141515000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
19	chr3:141513000-141515200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr3:141513000-141515200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
21	chr3:141513200-141514600	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr3:141513200-141516000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr3:141513400-141514400	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr3:141513600-141514600	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr3:141513600-141517800	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr3:141513800-141515000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr3:141513800-141515000	Weak transcription	Spleen	Spleen
28	chr3:141513800-141515800	Enhancers	Fetal Muscle Leg	muscle
29	chr3:141513800-141516200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr3:141513800-141516200	Enhancers	Esophagus	oesophagus
31	chr3:141513800-141517000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr3:141514000-141515200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr3:141514000-141517800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr3:141514200-141515200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr3:141514200-141515600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr3:141514200-141515600	Enhancers	HSMM	muscle
37	chr3:141514200-141515800	Enhancers	Fetal Muscle Trunk	muscle
38	chr3:141514200-141516000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr3:141514200-141516000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr3:141514200-141516000	Enhancers	Placenta	Placenta
41	chr3:141514200-141516400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr3:141514200-141517200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr3:141514200-141517600	Flanking Active TSS	Dnd41	blood

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