Variant report

Variant	rs9497012
Chromosome Location	chr6:144914195-144914196
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:144912593..144916364-chr6:144916671..144919134,3	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10081013	1.00[EUR][1000 genomes]
rs10457766	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9497010	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9497011	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9497015	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9497019	1.00[EUR][1000 genomes]
rs9497021	1.00[EUR][1000 genomes]
rs9497022	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015228	chr6:144780458-144989321	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv538462	chr6:144780458-144989321	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:144881800-144937800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:144885800-144943400	Weak transcription	Ovary	ovary
3	chr6:144899600-144931800	Weak transcription	Esophagus	oesophagus
4	chr6:144899800-144914400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr6:144899800-144914400	Weak transcription	Fetal Intestine Small	intestine
6	chr6:144899800-144917400	Weak transcription	Fetal Muscle Trunk	muscle
7	chr6:144900000-144915400	Weak transcription	Pancreas	Pancrea
8	chr6:144904400-144931600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr6:144904400-144931800	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr6:144904600-144914400	Weak transcription	HSMM	muscle
11	chr6:144904600-144915800	Weak transcription	Psoas Muscle	Psoas
12	chr6:144904600-144915800	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr6:144904600-144916400	Weak transcription	Fetal Stomach	stomach
14	chr6:144904600-144921600	Weak transcription	Fetal Muscle Leg	muscle
15	chr6:144904600-144923600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr6:144904600-144939800	Weak transcription	HSMMtube	muscle
17	chr6:144904800-144914200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr6:144904800-144914200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr6:144904800-144914200	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr6:144904800-144914600	Weak transcription	Spleen	Spleen
21	chr6:144904800-144915800	Weak transcription	NH-A	brain
22	chr6:144904800-144921200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr6:144904800-144929000	Weak transcription	Left Ventricle	heart
24	chr6:144904800-144935400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr6:144905400-144923200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr6:144905400-144923400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr6:144905800-144915400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr6:144905800-144922200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr6:144906400-144918600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr6:144906400-144922800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr6:144906800-144914800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr6:144907400-144914600	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr6:144907400-144914600	Weak transcription	Fetal Lung	lung
34	chr6:144907600-144914400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr6:144908600-144922400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr6:144908600-144922800	Weak transcription	Osteobl	bone
37	chr6:144908800-144917600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr6:144908800-144947400	Weak transcription	HUVEC	blood vessel
39	chr6:144909200-144915200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr6:144909200-144915800	Weak transcription	Fetal Intestine Large	intestine
41	chr6:144909400-144914200	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr6:144909400-144914400	Weak transcription	NHDF-Ad	bronchial
43	chr6:144909400-144917200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr6:144909400-144931000	Weak transcription	Aorta	Aorta
45	chr6:144909800-144915200	Weak transcription	Fetal Heart	heart
46	chr6:144910400-144924600	Weak transcription	Fetal Kidney	kidney
47	chr6:144910800-144914800	Strong transcription	Primary T cells fromperipheralblood	blood
48	chr6:144911000-144914800	Strong transcription	Primary T cells from cord blood	blood
49	chr6:144911600-144914800	Strong transcription	Dnd41	blood
50	chr6:144911600-144915000	Strong transcription	HepG2	liver

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