Variant report

Variant	rs7848139
Chromosome Location	chr9:97495467-97495468
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:97494353..97497226-chr9:97497507..97500698,3	K562	blood:
2	chr9:97494182..97496611-chr9:97502044..97503943,2	K562	blood:
3	chr9:97487662..97491833-chr9:97492544..97495519,5	K562	blood:
4	chr9:97494025..97495913-chr9:97503226..97505755,2	MCF-7	breast:
5	chr9:97487875..97491312-chr9:97494821..97498928,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000148120	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10081676	0.80[EUR][1000 genomes]
rs10217143	0.98[GIH][hapmap];0.82[MKK][hapmap];0.89[TSI][hapmap];0.81[EUR][1000 genomes]
rs10739982	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10739983	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10761351	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10761361	0.81[CEU][hapmap];0.90[YRI][hapmap];0.80[EUR][1000 genomes]
rs10821390	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10821392	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10821393	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10821398	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10821404	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10821413	0.81[YRI][hapmap]
rs10993344	0.93[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.89[TSI][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11788697	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12338409	0.88[MKK][hapmap];0.84[TSI][hapmap]
rs12338859	0.88[ASW][hapmap];0.95[LWK][hapmap];0.93[MKK][hapmap];0.89[TSI][hapmap];0.91[YRI][hapmap]
rs12344211	0.88[MKK][hapmap];0.84[TSI][hapmap]
rs1867102	0.94[ASW][hapmap];0.89[CEU][hapmap];1.00[GIH][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.99[MKK][hapmap];0.93[TSI][hapmap];0.91[YRI][hapmap];0.81[EUR][1000 genomes]
rs2031698	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4743969	0.94[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4744375	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4744386	0.94[ASW][hapmap];0.96[CEU][hapmap];0.90[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7022894	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7027708	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7847277	0.88[ASW][hapmap];0.92[CEU][hapmap];0.90[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7862219	0.88[ASW][hapmap];0.81[CEU][hapmap];0.98[GIH][hapmap];0.95[LWK][hapmap];0.97[MKK][hapmap];0.89[TSI][hapmap];0.91[YRI][hapmap];0.80[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	nsv893596	chr9:97321172-97598966	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
2	nsv1041922	chr9:97444976-97536753	Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	esv2764145	chr9:97495261-97505608	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:97489600-97496400	Weak transcription	Left Ventricle	heart
2	chr9:97489600-97496400	Weak transcription	Pancreas	Pancrea
3	chr9:97489600-97503200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr9:97489600-97504000	Weak transcription	Ovary	ovary
5	chr9:97489600-97506000	Weak transcription	Lung	lung
6	chr9:97489600-97524800	Weak transcription	Esophagus	oesophagus
7	chr9:97489800-97495600	Weak transcription	Fetal Lung	lung
8	chr9:97489800-97496200	Weak transcription	HSMM	muscle
9	chr9:97489800-97496200	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr9:97489800-97496400	Weak transcription	Psoas Muscle	Psoas
11	chr9:97489800-97496600	Weak transcription	Brain Substantia Nigra	brain
12	chr9:97489800-97502000	Weak transcription	Fetal Intestine Large	intestine
13	chr9:97489800-97502200	Weak transcription	Stomach Smooth Muscle	stomach
14	chr9:97489800-97505200	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr9:97489800-97505800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr9:97489800-97505800	Weak transcription	Right Ventricle	heart
17	chr9:97489800-97508000	Weak transcription	Primary B cells from peripheral blood	blood
18	chr9:97489800-97511000	Weak transcription	Fetal Muscle Trunk	muscle
19	chr9:97489800-97511400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr9:97489800-97511600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr9:97489800-97521600	Weak transcription	Fetal Thymus	thymus
22	chr9:97489800-97522000	Weak transcription	Thymus	Thymus
23	chr9:97489800-97522400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr9:97490000-97495600	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr9:97490000-97495600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr9:97490000-97496400	Weak transcription	Adipose Nuclei	Adipose
27	chr9:97490000-97496400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr9:97490000-97496400	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr9:97490000-97496600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr9:97490000-97497000	Weak transcription	NH-A	brain
31	chr9:97490000-97498800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr9:97490000-97502200	Weak transcription	Brain Angular Gyrus	brain
33	chr9:97490000-97502400	Weak transcription	Fetal Kidney	kidney
34	chr9:97490000-97505400	Weak transcription	HMEC	breast
35	chr9:97490000-97505600	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr9:97490000-97510600	Weak transcription	Primary T cells from cord blood	blood
37	chr9:97490000-97510800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr9:97490000-97510800	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr9:97490000-97510800	Weak transcription	Fetal Brain Female	brain
40	chr9:97490000-97510800	Weak transcription	NHDF-Ad	bronchial
41	chr9:97490000-97511600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr9:97490000-97511600	Weak transcription	Osteobl	bone
43	chr9:97490000-97512200	Weak transcription	Colon Smooth Muscle	Colon
44	chr9:97490000-97519400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr9:97490000-97521600	Weak transcription	Rectal Smooth Muscle	rectum
46	chr9:97490200-97496000	Weak transcription	Duodenum Mucosa	Duodenum
47	chr9:97490200-97496200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr9:97490200-97496400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr9:97490200-97496400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr9:97490200-97496600	Weak transcription	Fetal Intestine Small	intestine

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