Variant report

Variant	rs61310483
Chromosome Location	chr7:128165068-128165069
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	chr7:128164390..128167279-chr7:128169902..128171980,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000242588	Chromatin interaction
ENSG00000273270	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10240961	0.89[EUR][1000 genomes]
rs10241176	0.84[EUR][1000 genomes]
rs10273146	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11763357	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12534956	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12535956	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13247422	0.99[EUR][1000 genomes]
rs17627068	0.82[AMR][1000 genomes]
rs4500030	0.87[AMR][1000 genomes]
rs56403867	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs57185253	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs58781928	0.85[EUR][1000 genomes]
rs59027033	0.87[AMR][1000 genomes]
rs59665775	0.87[AMR][1000 genomes]
rs62481131	0.87[AMR][1000 genomes]
rs62481140	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62481159	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62481882	0.88[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs62481884	0.86[EUR][1000 genomes]
rs62481903	0.88[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs62483279	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62483283	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62483292	0.84[EUR][1000 genomes]
rs62483312	0.92[EUR][1000 genomes]
rs73463119	0.85[AMR][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	esv1794896	chr7:128142170-128170380	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs61310483	CICP14	cis	Thyroid	GTEx
rs61310483	RP11-274B21.4	cis	Nerve Tibial	GTEx
rs61310483	RP11-274B21.2	cis	Skin Sun Exposed Lower leg	GTEx
rs61310483	RP11-274B21.4	cis	lung	GTEx
rs61310483	RP11-274B21.1	cis	lung	GTEx

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128163000-128166400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr7:128163400-128166200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr7:128163400-128166400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:128163600-128169600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr7:128163600-128169800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr7:128163600-128169800	Weak transcription	Psoas Muscle	Psoas
7	chr7:128163600-128170400	Weak transcription	Lung	lung
8	chr7:128163800-128165400	Weak transcription	Gastric	stomach
9	chr7:128163800-128165600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr7:128163800-128165600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr7:128163800-128165600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr7:128163800-128165600	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr7:128163800-128165600	Enhancers	HepG2	liver
14	chr7:128163800-128165600	Weak transcription	HMEC	breast
15	chr7:128163800-128166200	Weak transcription	A549	lung
16	chr7:128163800-128169200	Weak transcription	Duodenum Mucosa	Duodenum
17	chr7:128163800-128169600	Weak transcription	Primary B cells from peripheral blood	blood
18	chr7:128163800-128169600	Weak transcription	Fetal Muscle Leg	muscle
19	chr7:128163800-128169800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr7:128163800-128169800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr7:128163800-128169800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr7:128163800-128169800	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr7:128163800-128169800	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr7:128163800-128169800	Weak transcription	Brain Anterior Caudate	brain
25	chr7:128163800-128169800	Weak transcription	Colon Smooth Muscle	Colon
26	chr7:128163800-128169800	Weak transcription	Fetal Stomach	stomach
27	chr7:128163800-128169800	Weak transcription	Left Ventricle	heart
28	chr7:128163800-128169800	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr7:128163800-128169800	Weak transcription	Small Intestine	intestine
30	chr7:128163800-128169800	Weak transcription	Dnd41	blood
31	chr7:128163800-128169800	Weak transcription	GM12878-XiMat	blood
32	chr7:128163800-128170000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr7:128163800-128170000	Weak transcription	Brain Substantia Nigra	brain
34	chr7:128163800-128170000	Weak transcription	Stomach Mucosa	stomach
35	chr7:128163800-128170000	Weak transcription	NH-A	brain
36	chr7:128163800-128170200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr7:128163800-128170200	Weak transcription	Fetal Thymus	thymus
38	chr7:128164000-128165600	Weak transcription	NHEK	skin
39	chr7:128164000-128169200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr7:128164000-128169800	Weak transcription	Adipose Nuclei	Adipose
41	chr7:128164000-128169800	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr7:128164000-128170200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr7:128164200-128165400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr7:128164200-128169200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr7:128164200-128169800	Weak transcription	Brain Cingulate Gyrus	brain
46	chr7:128164200-128169800	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr7:128164200-128169800	Weak transcription	Monocytes-CD14+_RO01746	blood
48	chr7:128164400-128165600	Weak transcription	Fetal Heart	heart
49	chr7:128164400-128169600	Weak transcription	Brain Hippocampus Middle	brain
50	chr7:128164400-128169800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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