Variant report

Variant	rs9373424
Chromosome Location	chr6:145031860-145031861
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:145031557-145032071	HepG2	liver:	n/a	n/a
2	GATA3	chr6:145031326-145031904	MCF-7	breast:	n/a	chr6:145031593-145031603
3	TFAP2A	chr6:145031373-145031896	Hela-S3	cervix:	n/a	chr6:145031615-145031625 chr6:145031613-145031627 chr6:145031615-145031625 chr6:145031615-145031625 chr6:145031615-145031625 chr6:145031613-145031627
4	SIN3AK20	chr6:145031345-145031878	MCF-7	breast:	n/a	n/a
5	CEBPB	chr6:145031362-145031861	MCF-7	breast:	n/a	n/a
6	FOS	chr6:145031262-145031860	MCF10A-Er-Src	breast:	n/a	n/a
7	RCOR1	chr6:145031162-145031917	IMR90	lung:	n/a	n/a

Variant related genes	Relation type
ENSG00000220739	TF binding region
ENSG00000217195	TF binding region

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs13208243	1.00[YRI][hapmap]
rs9373421	0.91[EUR][1000 genomes]
rs9376841	1.00[CEU][hapmap];0.81[JPT][hapmap];0.91[EUR][1000 genomes]
rs9376844	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9386077	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9390193	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9390194	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9390195	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9399493	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9403580	1.00[CEU][hapmap];0.81[JPT][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9403589	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016747	chr6:144917411-145599874	Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv1032838	chr6:144978504-145110121	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv830833	chr6:145001310-145201143	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	nsv1021098	chr6:145017386-145106441	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:144996600-145052400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr6:145004400-145047000	Weak transcription	HSMMtube	muscle
3	chr6:145009000-145047000	Weak transcription	Esophagus	oesophagus
4	chr6:145010600-145047000	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr6:145011000-145052600	Weak transcription	Ovary	ovary
6	chr6:145011200-145035200	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr6:145011800-145065600	Weak transcription	Pancreas	Pancrea
8	chr6:145011800-145090200	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr6:145011800-145096600	Weak transcription	Thymus	Thymus
10	chr6:145012000-145036600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr6:145012000-145039200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr6:145012000-145047000	Weak transcription	Gastric	stomach
13	chr6:145012000-145055600	Weak transcription	Spleen	Spleen
14	chr6:145012400-145053000	Weak transcription	Fetal Stomach	stomach
15	chr6:145014200-145033600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr6:145014200-145047000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr6:145018200-145047200	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr6:145018200-145052400	Weak transcription	Duodenum Mucosa	Duodenum
19	chr6:145018400-145069000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr6:145018800-145033400	Weak transcription	Rectal Smooth Muscle	rectum
21	chr6:145018800-145041200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr6:145019000-145047000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr6:145019200-145032000	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr6:145019400-145036600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr6:145019400-145052600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr6:145020200-145035400	Weak transcription	Fetal Lung	lung
27	chr6:145020800-145039400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr6:145021200-145032000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr6:145021200-145032000	Strong transcription	Monocytes-CD14+_RO01746	blood
30	chr6:145021800-145032800	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr6:145022000-145041000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr6:145022000-145051400	Weak transcription	Fetal Muscle Trunk	muscle
33	chr6:145022200-145053000	Weak transcription	Fetal Intestine Small	intestine
34	chr6:145022800-145036600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr6:145023800-145033200	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr6:145024000-145039000	Weak transcription	Fetal Muscle Leg	muscle
37	chr6:145024000-145087200	Weak transcription	Psoas Muscle	Psoas
38	chr6:145024200-145047000	Weak transcription	Fetal Thymus	thymus
39	chr6:145024600-145051400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr6:145024800-145039000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr6:145025000-145047200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr6:145025000-145050200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr6:145025400-145035800	Weak transcription	Fetal Kidney	kidney
44	chr6:145026800-145033000	Weak transcription	Colon Smooth Muscle	Colon
45	chr6:145026800-145038200	Weak transcription	Adipose Nuclei	Adipose
46	chr6:145026800-145039800	Weak transcription	Left Ventricle	heart
47	chr6:145027400-145052400	Weak transcription	Liver	Liver
48	chr6:145029800-145034200	Enhancers	HMEC	breast
49	chr6:145030000-145041400	Weak transcription	Primary T helper cells PMA-I stimulated	--
50	chr6:145030000-145047000	Weak transcription	Lung	lung

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