Variant report

Variant	rs10243137
Chromosome Location	chr7:128164530-128164531
allele	A/G
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: 27 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10225988	0.82[AFR][1000 genomes]
rs10237880	0.81[ASN][1000 genomes]
rs11978608	0.81[ASN][1000 genomes]
rs12670823	0.81[ASN][1000 genomes]
rs12671391	0.87[ASN][1000 genomes]
rs34682318	0.87[ASN][1000 genomes]
rs4731480	0.82[ASN][1000 genomes]
rs55660721	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55744429	0.87[ASN][1000 genomes]
rs56033435	0.81[ASN][1000 genomes]
rs57754703	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57968683	0.87[ASN][1000 genomes]
rs60796599	0.84[ASN][1000 genomes]
rs62483265	0.86[ASN][1000 genomes]
rs62483266	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62483267	0.86[ASN][1000 genomes]
rs62483268	0.84[ASN][1000 genomes]
rs62483269	0.85[ASN][1000 genomes]
rs62483273	0.87[ASN][1000 genomes]
rs62483274	0.87[ASN][1000 genomes]
rs62483276	0.82[ASN][1000 genomes]
rs62483297	0.82[ASN][1000 genomes]
rs6955960	0.80[AFR][1000 genomes]
rs6975194	0.81[ASN][1000 genomes]
rs7385676	0.82[AFR][1000 genomes]
rs7783334	0.82[ASN][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:8)

SNP	Gene	Cis/trans	Tissue	Source
rs10243137	CICP14	cis	Adipose Subcutaneous	GTEx
rs10243137	RP11-274B21.2	cis	Adipose Subcutaneous	GTEx
rs10243137	RP11-274B21.4	cis	Adipose Subcutaneous	GTEx
rs10243137	RP11-274B21.2	cis	lung	GTEx
rs10243137	RP11-274B21.4	cis	Muscle Skeletal	GTEx
rs10243137	RP11-274B21.4	cis	Whole Blood	GTEx
rs10243137	RP11-274B21.1	cis	Adipose Subcutaneous	GTEx
rs10243137	RP11-274B21.4	cis	lung	GTEx

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128162800-128164600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr7:128162800-128164800	Enhancers	Rectal Mucosa Donor 31	rectum
3	chr7:128162800-128165000	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr7:128163000-128166400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr7:128163200-128165000	Enhancers	Spleen	Spleen
6	chr7:128163400-128166200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr7:128163400-128166400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr7:128163600-128164800	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr7:128163600-128169600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr7:128163600-128169800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr7:128163600-128169800	Weak transcription	Psoas Muscle	Psoas
12	chr7:128163600-128170400	Weak transcription	Lung	lung
13	chr7:128163800-128165400	Weak transcription	Gastric	stomach
14	chr7:128163800-128165600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr7:128163800-128165600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr7:128163800-128165600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr7:128163800-128165600	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr7:128163800-128165600	Enhancers	HepG2	liver
19	chr7:128163800-128165600	Weak transcription	HMEC	breast
20	chr7:128163800-128166200	Weak transcription	A549	lung
21	chr7:128163800-128169200	Weak transcription	Duodenum Mucosa	Duodenum
22	chr7:128163800-128169600	Weak transcription	Primary B cells from peripheral blood	blood
23	chr7:128163800-128169600	Weak transcription	Fetal Muscle Leg	muscle
24	chr7:128163800-128169800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr7:128163800-128169800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr7:128163800-128169800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr7:128163800-128169800	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr7:128163800-128169800	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr7:128163800-128169800	Weak transcription	Brain Anterior Caudate	brain
30	chr7:128163800-128169800	Weak transcription	Colon Smooth Muscle	Colon
31	chr7:128163800-128169800	Weak transcription	Fetal Stomach	stomach
32	chr7:128163800-128169800	Weak transcription	Left Ventricle	heart
33	chr7:128163800-128169800	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr7:128163800-128169800	Weak transcription	Small Intestine	intestine
35	chr7:128163800-128169800	Weak transcription	Dnd41	blood
36	chr7:128163800-128169800	Weak transcription	GM12878-XiMat	blood
37	chr7:128163800-128170000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr7:128163800-128170000	Weak transcription	Brain Substantia Nigra	brain
39	chr7:128163800-128170000	Weak transcription	Stomach Mucosa	stomach
40	chr7:128163800-128170000	Weak transcription	NH-A	brain
41	chr7:128163800-128170200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr7:128163800-128170200	Weak transcription	Fetal Thymus	thymus
43	chr7:128164000-128165600	Weak transcription	NHEK	skin
44	chr7:128164000-128169200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr7:128164000-128169800	Weak transcription	Adipose Nuclei	Adipose
46	chr7:128164000-128169800	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr7:128164000-128170200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr7:128164200-128165400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr7:128164200-128169200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr7:128164200-128169800	Weak transcription	Brain Cingulate Gyrus	brain

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