Variant report

Variant	rs7865144
Chromosome Location	chr9:97771093-97771094
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:97769222..97771704-chr9:97773500..97776242,3	K562	blood:
2	chr9:97771036..97773650-chr9:97778187..97780629,2	K562	blood:
3	chr9:97769757..97772435-chr9:97816536..97818768,2	K562	blood:
4	chr9:97534491..97536621-chr9:97770920..97772463,2	MCF-7	breast:
5	chr11:73679741..73681379-chr9:97769942..97771731,2	MCF-7	breast:
6	chr9:97501974..97503551-chr9:97768873..97771457,2	MCF-7	breast:
7	chr9:97671639..97694679-chr9:97760418..97786060,142	MCF-7	breast:
8	chr9:97563450..97566296-chr9:97770387..97772298,3	MCF-7	breast:
9	chr9:97767984..97771413-chr9:97863181..97865279,3	MCF-7	breast:
10	chr9:97769187..97771943-chr9:97834202..97836015,2	MCF-7	breast:
11	chr9:97543390..97547292-chr9:97769751..97772749,5	MCF-7	breast:
12	chr9:97634532..97637191-chr9:97769954..97772571,2	MCF-7	breast:
13	chr9:97770812..97773643-chr9:97773924..97776829,2	K562	blood:
14	chr9:97768459..97771257-chr9:97817268..97820157,2	K562	blood:
15	chr9:97674991..97691307-chr9:97751911..97773298,151	MCF-7	breast:
16	chr9:97763635..97773461-chr9:97847821..97861280,36	MCF-7	breast:
17	chr9:97769731..97772071-chr9:97808769..97812479,5	MCF-7	breast:
18	chr9:97399443..97401665-chr9:97771079..97774076,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000255847	Chromatin interaction
ENSG00000148120	Chromatin interaction
ENSG00000207617	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs1004373	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10117370	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10119512	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10121760	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10123819	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1020963	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10512253	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10761364	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10761366	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10761368	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10761369	0.88[EUR][1000 genomes]
rs10993427	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10993464	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10993467	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1113102	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1412488	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1564234	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1571894	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1571895	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2061800	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2404295	0.80[ASN][1000 genomes]
rs2404305	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2404456	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3802454	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3802456	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4537362	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4743979	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4743980	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4743981	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4743982	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4743984	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4744422	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4744423	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4744424	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4744425	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4744426	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4744428	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4744430	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4744431	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4744432	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4744433	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4744435	0.84[EUR][1000 genomes]
rs6479588	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6479591	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6479592	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7020709	0.83[EUR][1000 genomes]
rs7021351	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7022452	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7043705	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7048786	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7048941	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7851173	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7854831	0.82[EUR][1000 genomes]
rs7857679	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7862156	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7863291	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7871218	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7873479	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7873567	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs962229	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[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	nsv933919	chr9:97619512-97919344	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	293 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7865144	hCG_2003663	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:97765800-97772600	Active TSS	Stomach Smooth Muscle	stomach
2	chr9:97766200-97771200	Active TSS	Fetal Kidney	kidney
3	chr9:97766200-97771800	Active TSS	Right Atrium	heart
4	chr9:97766400-97771400	Active TSS	Duodenum Smooth Muscle	Duodenum
5	chr9:97767800-97771200	Transcr. at gene 5' and 3'	HSMM	muscle
6	chr9:97767800-97771400	Transcr. at gene 5' and 3'	Osteobl	bone
7	chr9:97767800-97773600	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr9:97767800-97775200	Transcr. at gene 5' and 3'	A549	lung
9	chr9:97768000-97771200	Transcr. at gene 5' and 3'	NHDF-Ad	bronchial
10	chr9:97768000-97776400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr9:97768000-97781000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr9:97768000-97781000	Weak transcription	Gastric	stomach
13	chr9:97768000-97783800	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr9:97768000-97786200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr9:97768200-97779400	Weak transcription	Fetal Brain Female	brain
16	chr9:97768200-97779800	Weak transcription	K562	blood
17	chr9:97768800-97771200	Transcr. at gene 5' and 3'	NHEK	skin
18	chr9:97768800-97781800	Weak transcription	Primary hematopoietic stem cells	blood
19	chr9:97768800-97785600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr9:97769000-97779400	Weak transcription	GM12878-XiMat	blood
21	chr9:97769000-97783800	Weak transcription	Fetal Brain Male	brain
22	chr9:97769000-97787600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr9:97769200-97772800	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr9:97769600-97784200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr9:97769600-97790200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr9:97769800-97771200	Transcr. at gene 5' and 3'	HepG2	liver
27	chr9:97769800-97771400	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
28	chr9:97770000-97772000	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr9:97770000-97772000	Transcr. at gene 5' and 3'	HSMMtube	muscle
30	chr9:97770000-97781200	Weak transcription	Small Intestine	intestine
31	chr9:97770200-97771400	Genic enhancers	Liver	Liver
32	chr9:97770200-97771600	Active TSS	Breast Myoepithelial Primary Cells	Breast
33	chr9:97770200-97771600	Enhancers	Fetal Lung	lung
34	chr9:97770400-97771200	Transcr. at gene 5' and 3'	Left Ventricle	heart
35	chr9:97770400-97771200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
36	chr9:97770400-97771400	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr9:97770400-97774600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr9:97770600-97771200	Transcr. at gene 5' and 3'	Aorta	Aorta
39	chr9:97770600-97771400	Genic enhancers	Adipose Nuclei	Adipose
40	chr9:97770600-97772000	Weak transcription	Stomach Mucosa	stomach
41	chr9:97770600-97773200	Strong transcription	Placenta	Placenta
42	chr9:97770600-97774200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr9:97770600-97780800	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr9:97770800-97771200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr9:97770800-97771200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr9:97770800-97771200	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
47	chr9:97770800-97771200	Active TSS	Rectal Mucosa Donor 29	rectum
48	chr9:97770800-97771400	Genic enhancers	HUVEC	blood vessel
49	chr9:97770800-97771800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr9:97770800-97771800	Weak transcription	Brain Inferior Temporal Lobe	brain

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