Variant report

Variant	rs73409754
Chromosome Location	chr6:35265093-35265094
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	POLR2A	chr6:35264979-35266122	HepG2	liver:	n/a	n/a
2	MAX	chr6:35265055-35266256	NB4	blood:	n/a	chr6:35265383-35265393
3	E2F6	chr6:35264904-35265870	H1-hESC	embryonic stem cell:	n/a	chr6:35265404-35265415
4	ELF1	chr6:35264925-35266013	HCT-116	colon:	n/a	n/a
5	CTCF	chr6:35265060-35265210	GM12864	blood:	n/a	n/a
6	POLR2A	chr6:35265039-35266965	GM12891	blood:	n/a	n/a
7	MAX	chr6:35265086-35266063	GM12878	blood:	n/a	chr6:35265383-35265393
8	POLR2A	chr6:35264966-35266312	HL-60	blood:	n/a	n/a
9	CTCF	chr6:35265060-35265210	GM12871	blood:	n/a	n/a
10	POLR2A	chr6:35264837-35266002	GM12878	blood:	n/a	n/a
11	TEAD4	chr6:35264780-35266384	K562	blood:	n/a	n/a
12	CTCF	chr6:35265000-35265150	GM12864	blood:	n/a	n/a
13	RAD21	chr6:35264943-35266126	HCT-116	colon:	n/a	chr6:35265604-35265617 chr6:35265605-35265615 chr6:35265516-35265529
14	MTA3	chr6:35264994-35266728	GM12878	blood:	n/a	n/a
15	SPI1	chr6:35265057-35265919	HL-60	blood:	n/a	n/a
16	CBX3	chr6:35264991-35266161	K562	blood:	n/a	n/a
17	POLR2A	chr6:35264831-35266316	K562	blood:	n/a	n/a
18	POLR2A	chr6:35264984-35265919	PFSK-1	brain:	n/a	n/a
19	MAX	chr6:35265087-35265823	H1-hESC	embryonic stem cell:	n/a	chr6:35265383-35265393
20	ESRRA	chr6:35264874-35266478	GM12878	blood:	n/a	chr6:35264986-35264996 chr6:35265817-35265836
21	NR2F2	chr6:35264982-35266714	K562	blood:	n/a	n/a
22	POLR2A	chr6:35263796-35266073	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:35257372..35267692-chr6:35433856..35438688,25	K562	blood:
2	chr6:35265057..35265957-chr6:35419424..35420709,3	K562	blood:
3	chr6:35264065..35266185-chr6:35435418..35437067,2	MCF-7	breast:
4	chr6:35260730..35269335-chr6:35433870..35444063,22	MCF-7	breast:
5	chr6:35265003..35267090-chr6:35463346..35464932,2	K562	blood:
6	chr6:35261055..35266113-chr6:35308586..35312212,6	K562	blood:
7	chr6:35262981..35267829-chr6:35418945..35424124,7	K562	blood:
8	chr6:35257372..35267871-chr6:35433266..35439192,25	K562	blood:
9	chr6:35260793..35263953-chr6:35263989..35266366,4	K562	blood:
10	chr6:35265067..35266084-chr6:35435395..35436525,11	K562	blood:
11	chr6:35263661..35265616-chr6:35463054..35466039,2	MCF-7	breast:

Variant related genes	Relation type
DEF6	TF binding region
ENSG00000112033	Chromatin interaction
ENSG00000112039	Chromatin interaction
ENSG00000065029	Chromatin interaction
ENSG00000007866	Chromatin interaction
ENSG00000198755	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs73409718	1.00[EUR][1000 genomes]
rs73411703	1.00[EUR][1000 genomes]
rs73411750	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	esv2758047	chr6:35168116-35291002	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
2	esv2759419	chr6:35168116-35291002	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:35232600-35265200	Weak transcription	Stomach Mucosa	stomach
2	chr6:35248800-35265400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:35248800-35265800	Strong transcription	Brain Inferior Temporal Lobe	brain
4	chr6:35249000-35265200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr6:35249000-35265200	Strong transcription	Osteobl	bone
6	chr6:35249000-35265400	Weak transcription	Right Atrium	heart
7	chr6:35249000-35266800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr6:35249200-35265400	Strong transcription	Fetal Brain Female	brain
9	chr6:35251000-35266800	Weak transcription	Fetal Brain Male	brain
10	chr6:35253200-35265200	Strong transcription	Brain Substantia Nigra	brain
11	chr6:35253600-35265200	Strong transcription	Brain Germinal Matrix	brain
12	chr6:35256400-35265200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr6:35260800-35265600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr6:35261000-35265600	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr6:35261200-35270400	Weak transcription	Hela-S3	cervix
16	chr6:35261600-35265600	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr6:35261800-35265200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr6:35261800-35265600	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr6:35261800-35265600	Weak transcription	Small Intestine	intestine
20	chr6:35263000-35265400	Genic enhancers	Skeletal Muscle Female	skeletal muscle
21	chr6:35263000-35265600	Weak transcription	Fetal Kidney	kidney
22	chr6:35263000-35270400	Weak transcription	A549	lung
23	chr6:35263200-35265200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr6:35263200-35265400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr6:35263200-35265600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr6:35263200-35270600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr6:35263200-35270600	Weak transcription	NHDF-Ad	bronchial
28	chr6:35263400-35265600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr6:35263400-35265800	Weak transcription	Brain Angular Gyrus	brain
30	chr6:35263400-35270200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr6:35263600-35265200	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr6:35263600-35265200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr6:35263600-35266000	Weak transcription	Aorta	Aorta
34	chr6:35263800-35265600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr6:35264000-35265400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr6:35264000-35265600	Enhancers	Left Ventricle	heart
37	chr6:35264000-35265600	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr6:35264200-35265200	Strong transcription	HSMM	muscle
39	chr6:35264200-35265600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr6:35264400-35265200	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr6:35264400-35265200	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr6:35264400-35265200	Genic enhancers	Fetal Muscle Leg	muscle
43	chr6:35264400-35265400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr6:35264400-35265400	Enhancers	Primary B cells from cord blood	blood
45	chr6:35264400-35265600	Enhancers	HMEC	breast
46	chr6:35264400-35266200	Weak transcription	Ovary	ovary
47	chr6:35264400-35267400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr6:35264600-35265200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr6:35264600-35265200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr6:35264600-35265200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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