Variant report

Variant	rs573808709
Chromosome Location	chr6:44094427-44094428
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:107)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:107 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr6:44094334-44094861	GM12878	blood:	n/a	n/a
2	BHLHE40	chr6:44094355-44094807	GM12878	blood:	n/a	n/a
3	BATF	chr6:44094419-44094779	GM12878	blood:	n/a	n/a
4	IRF1	chr6:44093998-44095304	K562	blood:	n/a	chr6:44095230-44095244 chr6:44094564-44094578
5	ARID3A	chr6:44094137-44094554	HepG2	liver:	n/a	n/a
6	WRNIP1	chr6:44093649-44094809	GM12878	blood:	n/a	n/a
7	TBP	chr6:44094311-44095278	K562	blood:	n/a	n/a
8	MXI1	chr6:44093307-44096849	SK-N-SH	brain:	n/a	chr6:44095719-44095728
9	PML	chr6:44094339-44095387	GM12878	blood:	n/a	n/a
10	TBL1XR1	chr6:44093739-44094740	K562	blood:	n/a	n/a
11	POLR2A	chr6:44093915-44095324	GM12878	blood:	n/a	n/a
12	RUNX3	chr6:44094301-44094872	GM12878	blood:	n/a	n/a
13	CBX3	chr6:44094220-44094912	K562	blood:	n/a	n/a
14	POLR2A	chr6:44094353-44095589	PFSK-1	brain:	n/a	n/a
15	NR2F2	chr6:44094051-44094871	K562	blood:	n/a	n/a
16	POLR2A	chr6:44093405-44095328	MCF10A-Er-Src	breast:	n/a	n/a
17	HEY1	chr6:44093972-44094843	HepG2	liver:	n/a	n/a
18	PML	chr6:44093975-44094843	K562	blood:	n/a	n/a
19	POLR2A	chr6:44094107-44094894	K562	blood:	n/a	n/a
20	MXI1	chr6:44093987-44095259	GM12878	blood:	n/a	n/a
21	NR2F2	chr6:44093874-44094760	K562	blood:	n/a	n/a
22	RCOR1	chr6:44094019-44095244	K562	blood:	n/a	n/a
23	STAT5A	chr6:44094340-44094836	GM12878	blood:	n/a	chr6:44094698-44094710
24	POLR2A	chr6:44094423-44094892	Hela-S3	cervix:	n/a	n/a
25	MAX	chr6:44094386-44095344	K562	blood:	n/a	chr6:44095138-44095147
26	POLR2A	chr6:44093605-44095294	HepG2	liver:	n/a	n/a
27	NFATC1	chr6:44094170-44094841	GM12878	blood:	n/a	n/a
28	STAT5A	chr6:44094150-44094814	GM12878	blood:	n/a	chr6:44094698-44094710
29	RELA	chr6:44094174-44095286	GM19193	blood:	n/a	n/a
30	MBD4	chr6:44093963-44094855	HepG2	liver:	n/a	n/a
31	POLR2A	chr6:44093993-44094643	HepG2	liver:	n/a	n/a
32	POLR2A	chr6:44094410-44095619	K562	blood:	n/a	n/a
33	SIN3A	chr6:44094343-44096576	H1-hESC	embryonic stem cell:	n/a	chr6:44095951-44095960 chr6:44095972-44095985
34	MTA3	chr6:44094212-44095237	GM12878	blood:	n/a	n/a
35	ARID3A	chr6:44094416-44094705	K562	blood:	n/a	n/a
36	RELA	chr6:44094288-44095277	GM15510	blood:	n/a	n/a
37	RELA	chr6:44094420-44095260	GM19099	blood:	n/a	n/a
38	ZMIZ1	chr6:44094196-44095256	K562	blood:	n/a	n/a
39	CTCF	chr6:44094280-44094430	GM12871	blood:	n/a	n/a
40	IRF1	chr6:44093953-44095259	K562	blood:	n/a	chr6:44095230-44095244 chr6:44094564-44094578
41	RELA	chr6:44094395-44095261	GM10847	blood:	n/a	n/a
42	CHD1	chr6:44094288-44095216	GM12878	blood:	n/a	n/a
43	MAZ	chr6:44094352-44096578	K562	blood:	n/a	chr6:44095138-44095147 chr6:44096314-44096324
44	POLR2A	chr6:44093945-44095613	K562	blood:	n/a	n/a
45	RCOR1	chr6:44094208-44094769	GM12878	blood:	n/a	n/a
46	IKZF1	chr6:44094313-44094790	GM12878	blood:	n/a	n/a
47	POLR2A	chr6:44094143-44095297	IMR90	lung:	n/a	n/a
48	POLR2A	chr6:44094405-44095302	H1-hESC	embryonic stem cell:	n/a	n/a
49	RFX5	chr6:44094242-44094758	GM12878	blood:	n/a	n/a
50	STAT3	chr6:44094333-44094677	GM12878	blood:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:44092343..44095710-chr6:44231665..44234902,4	K562	blood:
2	chr6:44093370..44096253-chr6:44223564..44226835,7	K562	blood:
3	chr6:44093312..44099146-chr6:44212809..44220233,13	MCF-7	breast:
4	chr6:44092682..44101478-chr6:44189085..44198306,11	K562	blood:
5	chr6:44094044..44095024-chr7:99214204..99214912,2	Hela-S3	cervix:
6	chr6:44094061..44096796-chr6:44223845..44226294,3	K562	blood:
7	chr6:44093355..44096767-chr6:44213001..44216421,7	K562	blood:
8	chr6:44042539..44044412-chr6:44091796..44094551,2	K562	blood:
9	chr6:44093355..44100261-chr6:44212966..44217093,13	K562	blood:
10	chr6:43596367..43598855-chr6:44092530..44095404,4	K562	blood:
11	chr6:44093102..44095527-chr6:44231141..44233414,2	MCF-7	breast:
12	chr6:43595621..43598855-chr6:44092842..44097752,6	K562	blood:

No data

Variant related genes	Relation type
TMEM63B	TF binding region
ENSG00000112759	Chromatin interaction
ENSG00000146232	Chromatin interaction
ENSG00000157593	Chromatin interaction
ENSG00000124688	Chromatin interaction
ENSG00000197037	Chromatin interaction
ENSG00000172432	Chromatin interaction
ENSG00000096384	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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	nsv931987	chr6:43624625-44350167	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	201 gene(s)	inside rSNPs	diseases
2	nsv462935	chr6:44046143-44117607	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv603002	chr6:44046143-44117607	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	esv3325720	chr6:44094199-44096747	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:44093000-44094600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr6:44093200-44094600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr6:44093200-44096200	Active TSS	Lung	lung
4	chr6:44093400-44094600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr6:44093400-44094600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr6:44093400-44094600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr6:44093400-44094600	Flanking Active TSS	Dnd41	blood
8	chr6:44093400-44096200	Active TSS	Breast Myoepithelial Primary Cells	Breast
9	chr6:44093600-44094600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
10	chr6:44093600-44094600	Flanking Active TSS	Liver	Liver
11	chr6:44093600-44094600	Flanking Active TSS	Brain Anterior Caudate	brain
12	chr6:44093600-44094600	Flanking Active TSS	Brain Hippocampus Middle	brain
13	chr6:44093600-44094600	Flanking Active TSS	Colon Smooth Muscle	Colon
14	chr6:44093600-44094600	Flanking Active TSS	Duodenum Mucosa	Duodenum
15	chr6:44093600-44094600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
16	chr6:44093600-44094600	Flanking Active TSS	HUVEC	blood vessel
17	chr6:44093600-44094600	Flanking Active TSS	NH-A	brain
18	chr6:44093600-44094800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
19	chr6:44093600-44094800	Flanking Active TSS	Fetal Thymus	thymus
20	chr6:44093800-44094600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
21	chr6:44093800-44094600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
22	chr6:44093800-44094600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr6:44093800-44094600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
24	chr6:44093800-44094600	Flanking Active TSS	Brain Angular Gyrus	brain
25	chr6:44093800-44094600	Flanking Active TSS	Brain Cingulate Gyrus	brain
26	chr6:44093800-44094600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
27	chr6:44093800-44094600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
28	chr6:44093800-44094600	Flanking Active TSS	Fetal Brain Female	brain
29	chr6:44093800-44094600	Flanking Active TSS	Fetal Heart	heart
30	chr6:44093800-44094800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
31	chr6:44093800-44094800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
32	chr6:44093800-44095800	Active TSS	Fetal Muscle Trunk	muscle
33	chr6:44093800-44096000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr6:44093800-44096400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
35	chr6:44093800-44096400	Active TSS	Pancreatic Islets	Pancreatic Islet
36	chr6:44094000-44094600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr6:44094000-44094600	Flanking Active TSS	Primary B cells from cord blood	blood
38	chr6:44094000-44094600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
39	chr6:44094000-44094600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
40	chr6:44094000-44094600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr6:44094000-44094600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr6:44094000-44094600	Flanking Active TSS	Adipose Nuclei	Adipose
43	chr6:44094000-44094600	Flanking Active TSS	Brain Substantia Nigra	brain
44	chr6:44094000-44094600	Flanking Active TSS	Thymus	Thymus
45	chr6:44094000-44094800	Flanking Active TSS	Primary hematopoietic stem cells	blood
46	chr6:44094000-44094800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
47	chr6:44094000-44094800	Active TSS	Right Atrium	heart
48	chr6:44094000-44095200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr6:44094000-44096000	Active TSS	Ovary	ovary
50	chr6:44094000-44096200	Active TSS	Esophagus	oesophagus

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