Variant report

Variant	rs9493784
Chromosome Location	chr6:134300046-134300047
allele	A/C
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	MYC	chr6:134299364-134300219	MCF10A-Er-Src	breast:	n/a	chr6:134300149-134300158 chr6:134299589-134299600 chr6:134299590-134299600
2	POLR2A	chr6:134300030-134300748	K562	blood:	n/a	n/a
3	FOS	chr6:134300041-134300307	MCF10A-Er-Src	breast:	n/a	n/a
4	FOSL2	chr6:134300034-134300366	MCF-7	breast:	n/a	n/a
5	POLR2A	chr6:134285949-134300753	K562	blood:	n/a	n/a
6	GATA3	chr6:134300014-134300361	T-47D	breast:	n/a	n/a
7	FOS	chr6:134300044-134300291	MCF10A-Er-Src	breast:	n/a	n/a
8	MYC	chr6:134299368-134300252	MCF10A-Er-Src	breast:	n/a	chr6:134300149-134300158 chr6:134299589-134299600 chr6:134299590-134299600
9	SIN3AK20	chr6:134300011-134300573	MCF-7	breast:	n/a	n/a
10	GATA3	chr6:134300039-134300397	SH-SY5Y	brain:	n/a	n/a
11	GATA3	chr6:134299822-134300654	MCF-7	breast:	n/a	n/a
12	GATA3	chr6:134299895-134300449	A549	lung:	n/a	n/a
13	GATA3	chr6:134299921-134300487	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:134299476..134301800-chr6:134413049..134415784,2	K562	blood:
2	chr6:134272489..134275432-chr6:134297855..134300615,3	K562	blood:
3	chr6:134283774..134285456-chr6:134299737..134302262,2	K562	blood:
4	chr6:134298988..134300758-chr6:134423394..134426369,2	K562	blood:
5	chr6:134298950..134300635-chr6:134394492..134396372,2	K562	blood:
6	chr6:134297385..134300125-chr6:134336885..134339379,2	MCF-7	breast:

Variant related genes	Relation type
TBPL1	TF binding region
ENSG00000028839	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs2220134	1.00[AMR][1000 genomes]
rs73774175	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9483638	0.81[AFR][1000 genomes]
rs9493766	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9493767	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9493778	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9493782	0.90[AFR][1000 genomes]
rs9493783	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9493789	0.90[AFR][1000 genomes];1.00[AMR][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	esv34122	chr6:134089019-134378252	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:134276200-134303000	Weak transcription	HSMMtube	muscle
2	chr6:134276600-134302800	Weak transcription	Fetal Kidney	kidney
3	chr6:134276600-134314000	Weak transcription	Thymus	Thymus
4	chr6:134278000-134303600	Weak transcription	Dnd41	blood
5	chr6:134280400-134304200	Weak transcription	Primary hematopoietic stem cells	blood
6	chr6:134280600-134312200	Weak transcription	Lung	lung
7	chr6:134282600-134302000	Weak transcription	Placenta	Placenta
8	chr6:134283200-134305600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr6:134285000-134316600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr6:134286800-134304200	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr6:134288200-134311800	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr6:134288400-134306600	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr6:134289800-134304200	Weak transcription	Fetal Stomach	stomach
14	chr6:134290000-134304200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr6:134290200-134302400	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr6:134290800-134316400	Weak transcription	Esophagus	oesophagus
17	chr6:134291200-134302400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr6:134291800-134304000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr6:134292400-134300600	Weak transcription	Primary B cells from cord blood	blood
20	chr6:134292600-134303000	Weak transcription	Primary B cells from peripheral blood	blood
21	chr6:134292600-134304400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr6:134294400-134304200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr6:134294600-134302400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr6:134294600-134302400	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr6:134294600-134303600	Weak transcription	Primary T cells from cord blood	blood
26	chr6:134294600-134304200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr6:134294800-134302400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr6:134295000-134301000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr6:134295000-134301200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr6:134295000-134302600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr6:134295000-134302800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr6:134295000-134303000	Weak transcription	Primary T helper cells PMA-I stimulated	--
33	chr6:134295000-134303800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr6:134295000-134303800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr6:134295000-134313800	Weak transcription	Spleen	Spleen
36	chr6:134295200-134311800	Weak transcription	Brain Germinal Matrix	brain
37	chr6:134296400-134304400	Weak transcription	Pancreas	Pancrea
38	chr6:134297000-134318000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr6:134297200-134304200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr6:134297400-134301400	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr6:134297400-134302400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr6:134297400-134302400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr6:134297600-134304800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr6:134297800-134304200	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr6:134298000-134302400	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr6:134298400-134304200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr6:134298600-134301400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr6:134298600-134301600	Enhancers	Pancreatic Islets	Pancreatic Islet
49	chr6:134298800-134300400	Enhancers	Brain Anterior Caudate	brain
50	chr6:134298800-134300800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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