Variant report

Variant	rs563050616
Chromosome Location	chr6:44238765-44238766
allele	C/T
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	REST	chr6:44238535-44239067	ECC-1	luminal epithelium:	n/a	chr6:44238836-44238849
2	REST	chr6:44238671-44238802	U87	brain:	n/a	n/a
3	ZNF143	chr6:44238742-44238942	H1-hESC	embryonic stem cell:	n/a	n/a
4	REST	chr6:44238671-44238906	U87	brain:	n/a	chr6:44238836-44238849
5	REST	chr6:44238657-44238859	SK-N-SH	brain:	n/a	chr6:44238836-44238849
6	REST	chr6:44238542-44239174	HL-60	blood:	n/a	chr6:44238836-44238849
7	REST	chr6:44238680-44239041	PANC-1	pancreas:	n/a	chr6:44238836-44238849
8	REST	chr6:44238549-44239073	PANC-1	pancreas:	n/a	chr6:44238836-44238849
9	REST	chr6:44238680-44238821	GM12878	blood:	n/a	n/a
10	REST	chr6:44237315-44239608	H1-neurons	neurons:	n/a	chr6:44238836-44238849 chr6:44238124-44238137 chr6:44238436-44238446 chr6:44237917-44237927
11	REST	chr6:44238681-44238868	PFSK-1	brain:	n/a	chr6:44238836-44238849
12	REST	chr6:44238627-44238888	PANC-1	pancreas:	n/a	chr6:44238836-44238849
13	ZBTB7A	chr6:44238680-44238891	HepG2	liver:	n/a	n/a
14	REST	chr6:44238725-44238820	PANC-1	pancreas:	n/a	n/a
15	ZBTB7A	chr6:44238264-44239049	ECC-1	luminal epithelium:	n/a	chr6:44238463-44238472 chr6:44238629-44238636
16	REST	chr6:44238588-44238922	HepG2	liver:	n/a	chr6:44238836-44238849
17	MAX	chr6:44238488-44238976	H1-hESC	embryonic stem cell:	n/a	n/a
18	REST	chr6:44238666-44238868	GM12878	blood:	n/a	chr6:44238836-44238849
19	EGR1	chr6:44238652-44238863	K562	blood:	n/a	n/a
20	SIN3A	chr6:44238394-44238961	H1-hESC	embryonic stem cell:	n/a	n/a
21	EP300	chr6:44238361-44238818	H1-hESC	embryonic stem cell:	n/a	chr6:44238639-44238655
22	REST	chr6:44238654-44238849	GM12878	blood:	n/a	chr6:44238836-44238849
23	CCNT2	chr6:44238420-44238817	K562	blood:	n/a	chr6:44238423-44238432
24	REST	chr6:44238609-44238958	K562	blood:	n/a	chr6:44238836-44238849
25	REST	chr6:44238651-44238901	SK-N-SH	brain:	n/a	chr6:44238836-44238849
26	SIN3AK20	chr6:44238321-44238905	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr6:44237786-44239191	H1-neurons	neurons:	n/a	n/a
28	TEAD4	chr6:44238604-44238959	A549	lung:	n/a	n/a
29	ZBTB7A	chr6:44238303-44238938	K562	blood:	n/a	chr6:44238463-44238472 chr6:44238629-44238636
30	JUND	chr6:44238630-44238812	H1-hESC	embryonic stem cell:	n/a	n/a
31	REST	chr6:44238577-44238983	H1-hESC	embryonic stem cell:	n/a	chr6:44238836-44238849
32	REST	chr6:44238388-44239018	SK-N-SH	brain:	n/a	chr6:44238836-44238849 chr6:44238436-44238446
33	REST	chr6:44238609-44238954	HepG2	liver:	n/a	chr6:44238836-44238849
34	REST	chr6:44238633-44238870	PANC-1	pancreas:	n/a	chr6:44238836-44238849
35	REST	chr6:44238590-44239101	HL-60	blood:	n/a	chr6:44238836-44238849
36	REST	chr6:44238591-44239096	PFSK-1	brain:	n/a	chr6:44238836-44238849
37	ZBTB7A	chr6:44238596-44239089	ECC-1	luminal epithelium:	n/a	chr6:44238629-44238636
38	ZBTB7A	chr6:44238376-44239000	K562	blood:	n/a	chr6:44238463-44238472 chr6:44238629-44238636
39	REST	chr6:44238539-44239108	MCF-7	breast:	n/a	chr6:44238836-44238849
40	REST	chr6:44238598-44239252	PFSK-1	brain:	n/a	chr6:44238836-44238849
41	REST	chr6:44238539-44238967	H1-hESC	embryonic stem cell:	n/a	chr6:44238836-44238849
42	REST	chr6:44238614-44238964	SK-N-SH	brain:	n/a	chr6:44238836-44238849
43	REST	chr6:44238592-44239032	GM12878	blood:	n/a	chr6:44238836-44238849
44	REST	chr6:44238670-44238926	HepG2	liver:	n/a	chr6:44238836-44238849
45	REST	chr6:44238306-44239041	ECC-1	luminal epithelium:	n/a	chr6:44238836-44238849 chr6:44238436-44238446
46	ELF1	chr6:44238630-44238866	K562	blood:	n/a	chr6:44238637-44238649
47	POLR2A	chr6:44238649-44238965	H1-hESC	embryonic stem cell:	n/a	n/a
48	REST	chr6:44238689-44238830	A549	lung:	n/a	n/a
49	REST	chr6:44238421-44239157	PFSK-1	brain:	n/a	chr6:44238836-44238849 chr6:44238436-44238446
50	MAZ	chr6:44238298-44239163	IMR90	lung:	n/a	chr6:44238381-44238391 chr6:44239104-44239114

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:44231911..44234847-chr6:44237510..44240187,2	MCF-7	breast:
2	chr6:44237771..44241790-chr6:44264717..44266725,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000272442	TF binding region
ENSG00000146232	Chromatin interaction
ENSG00000146221	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:15 , 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	nsv885851	chr6:44178471-44240559	Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
3	nsv603003	chr6:44191920-44253765	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
4	nsv462936	chr6:44191920-44282316	Weak transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
5	nsv603004	chr6:44191920-44282316	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS 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 miRNA target site	101 gene(s)	inside rSNPs	diseases
6	nsv885853	chr6:44197181-44274797	Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
7	nsv524398	chr6:44200953-44253765	Active TSS Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
8	nsv885854	chr6:44211867-44274797	Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
9	nsv462937	chr6:44211867-44279111	Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
10	nsv603005	chr6:44211867-44279111	Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
11	nsv885857	chr6:44223010-44250165	Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	28 gene(s)	inside rSNPs	diseases
12	esv3358306	chr6:44236999-44239947	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
13	esv3508275	chr6:44237449-44239997	Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
14	esv3508276	chr6:44237449-44239997	Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
15	esv3395844	chr6:44237774-44239722	Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:44236400-44238800	Weak transcription	Brain Substantia Nigra	brain
2	chr6:44237000-44239200	Bivalent Enhancer	HUVEC	blood vessel
3	chr6:44237600-44238800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
4	chr6:44237600-44239000	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr6:44237800-44238800	Bivalent/Poised TSS	Thymus	Thymus
6	chr6:44237800-44239000	Active TSS	Breast Myoepithelial Primary Cells	Breast
7	chr6:44237800-44239200	Active TSS	H9 Cell Line	embryonic stem cell
8	chr6:44237800-44239200	Active TSS	Brain Angular Gyrus	brain
9	chr6:44238000-44238800	Active TSS	H1 Cell Line	embryonic stem cell
10	chr6:44238000-44238800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr6:44238000-44238800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr6:44238000-44238800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr6:44238000-44238800	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr6:44238000-44238800	Enhancers	Fetal Brain Male	brain
15	chr6:44238000-44238800	Active TSS	Right Atrium	heart
16	chr6:44238000-44239000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr6:44238000-44239000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr6:44238000-44239000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
19	chr6:44238000-44239000	Active TSS	iPS-18 Cell Line	embryonic stem cell
20	chr6:44238000-44239000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
21	chr6:44238000-44239000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr6:44238000-44239000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
23	chr6:44238000-44239000	Active TSS	Brain Germinal Matrix	brain
24	chr6:44238000-44239000	Active TSS	Fetal Brain Female	brain
25	chr6:44238000-44239000	Active TSS	Psoas Muscle	Psoas
26	chr6:44238000-44239000	Active TSS	Right Ventricle	heart
27	chr6:44238000-44239000	Bivalent/Poised TSS	HepG2	liver
28	chr6:44238000-44239200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr6:44238000-44239200	Active TSS	iPS-15b Cell Line	embryonic stem cell
30	chr6:44238000-44239200	Bivalent/Poised TSS	Primary T regulatory cells fromperipheralblood	blood
31	chr6:44238000-44239200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr6:44238000-44239200	Active TSS	Brain Anterior Caudate	brain
33	chr6:44238000-44239400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
34	chr6:44238000-44240800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
35	chr6:44238200-44238800	Bivalent/Poised TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr6:44238200-44238800	Active TSS	Cortex derived primary cultured neurospheres	brain
37	chr6:44238200-44238800	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr6:44238200-44238800	Active TSS	Aorta	Aorta
39	chr6:44238200-44239000	Active TSS	HUES48 Cell Line	embryonic stem cell
40	chr6:44238200-44239000	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr6:44238200-44239000	Active TSS	Ovary	ovary
42	chr6:44238200-44239400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr6:44238400-44238800	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr6:44238400-44238800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr6:44238400-44238800	Bivalent/Poised TSS	Primary T helper naive cells fromperipheralblood	blood
46	chr6:44238400-44238800	Bivalent/Poised TSS	Primary T helper 17 cells PMA-I stimulated	--
47	chr6:44238400-44238800	Bivalent/Poised TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr6:44238400-44238800	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr6:44238400-44238800	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
50	chr6:44238400-44238800	Active TSS	HMEC	breast

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