Variant report

Variant	rs570607803
Chromosome Location	chr1:222790685-222790686
allele	-/AATC
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	chr1:222790384-222791290	H1-hESC	embryonic stem cell:	n/a	n/a
2	YY1	chr1:222790497-222791857	SK-N-SH	brain:	n/a	chr1:222791173-222791182 chr1:222790508-222790518
3	BACH1	chr1:222790484-222791170	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr1:222790625-222791246	U87	brain:	n/a	n/a
5	CREB1	chr1:222790611-222791274	A549	lung:	n/a	chr1:222791136-222791149
6	CHD1	chr1:222790608-222790762	H1-hESC	embryonic stem cell:	n/a	n/a
7	CREB1	chr1:222790679-222791728	H1-hESC	embryonic stem cell:	n/a	chr1:222791136-222791149
8	REST	chr1:222790391-222792363	H1-neurons	neurons:	n/a	chr1:222792129-222792142 chr1:222792014-222792032 chr1:222791917-222791924 chr1:222791990-222792003 chr1:222792016-222792029
9	NFYB	chr1:222790664-222791256	GM12878	blood:	n/a	chr1:222791015-222791030
10	POLR2A	chr1:222790606-222791672	GM12878	blood:	n/a	n/a
11	ZNF263	chr1:222790566-222791644	HEK293-T-REx	kidney:	n/a	chr1:222791076-222791085 chr1:222791412-222791421
12	POLR2A	chr1:222790597-222791246	U87	brain:	n/a	n/a
13	POLR2A	chr1:222790053-222791684	IMR90	lung:	n/a	n/a
14	TAF1	chr1:222790600-222791233	H1-hESC	embryonic stem cell:	n/a	n/a
15	MAZ	chr1:222790520-222792569	IMR90	lung:	n/a	chr1:222791038-222791047 chr1:222791868-222791878 chr1:222791405-222791415
16	MAX	chr1:222790578-222791751	A549	lung:	n/a	chr1:222791038-222791047 chr1:222791405-222791415
17	GABPA	chr1:222790662-222791132	K562	blood:	n/a	chr1:222790947-222790956
18	MXI1	chr1:222790546-222793141	IMR90	lung:	n/a	chr1:222791038-222791053 chr1:222791036-222791051
19	POLR2A	chr1:222790618-222791306	H1-neurons	neurons:	n/a	n/a
20	NR2F2	chr1:222790682-222791209	K562	blood:	n/a	n/a
21	MXI1	chr1:222789848-222793177	SK-N-SH	brain:	n/a	chr1:222791038-222791053 chr1:222791036-222791051
22	RCOR1	chr1:222789522-222791271	IMR90	lung:	n/a	n/a
23	SIN3A	chr1:222790671-222792601	H1-hESC	embryonic stem cell:	n/a	chr1:222792129-222792138
24	JUND	chr1:222790648-222791224	H1-hESC	embryonic stem cell:	n/a	n/a
25	CTCF	chr1:222790660-222790810	HCPEpiC	choroid plexus:	n/a	chr1:222790697-222790710
26	MAX	chr1:222790663-222791309	ECC-1	luminal epithelium:	n/a	chr1:222791038-222791047
27	MAZ	chr1:222790661-222791609	GM12878	blood:	n/a	chr1:222791038-222791047 chr1:222791405-222791415
28	MTA3	chr1:222790553-222791047	GM12878	blood:	n/a	n/a
29	MAX	chr1:222790643-222791320	SK-N-SH	brain:	n/a	chr1:222791038-222791047
30	RCOR1	chr1:222790681-222791162	K562	blood:	n/a	n/a
31	NRF1	chr1:222790444-222791280	SK-N-SH	brain:	n/a	chr1:222790947-222790956 chr1:222791171-222791180
32	YY1	chr1:222790631-222791221	H1-hESC	embryonic stem cell:	n/a	chr1:222791173-222791182

No.	Distal block	Cell Line	Cell type
1	chr1:222761567..222764879-chr1:222790132..222793494,4	MCF-7	breast:
2	chr1:222790149..222792584-chr1:222885363..222887404,2	K562	blood:
3	chr1:222788058..222793799-chr1:222815102..222819462,10	K562	blood:
4	chr1:222789930..222793106-chr1:222884660..222888170,6	K562	blood:
5	chr1:222788934..222792471-chr1:222815936..222819007,5	MCF-7	breast:
6	chr1:222761959..222766700-chr1:222790061..222794365,7	MCF-7	breast:
7	chr1:222789107..222793717-chr1:222814287..222819011,10	K562	blood:

Variant related genes	Relation type
MIA3	TF binding region
ENSG00000225265	Chromatin interaction
ENSG00000162819	Chromatin interaction
ENSG00000186063	Chromatin interaction
ENSG00000229399	Chromatin interaction
ENSG00000143498	Chromatin interaction
ENSG00000154305	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999185	chr1:222500725-223278032	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv535304	chr1:222500725-223278032	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv873205	chr1:222718718-222923351	Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv1012537	chr1:222755091-223512243	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
5	esv3325041	chr1:222790354-222793202	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:222790200-222791000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr1:222790200-222791000	Flanking Active TSS	NHDF-Ad	bronchial
3	chr1:222790200-222791200	Flanking Active TSS	Liver	Liver
4	chr1:222790400-222790800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
5	chr1:222790400-222790800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr1:222790400-222790800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr1:222790400-222790800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
8	chr1:222790400-222790800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
9	chr1:222790400-222790800	Flanking Active TSS	Brain Angular Gyrus	brain
10	chr1:222790400-222790800	Enhancers	Fetal Lung	lung
11	chr1:222790400-222791000	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
12	chr1:222790400-222791000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
13	chr1:222790400-222791000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
14	chr1:222790400-222791000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
15	chr1:222790400-222791000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr1:222790400-222791000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr1:222790400-222791000	Flanking Active TSS	Brain Hippocampus Middle	brain
18	chr1:222790400-222791000	Flanking Active TSS	Osteobl	bone
19	chr1:222790400-222791200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr1:222790400-222791200	Flanking Active TSS	Adipose Nuclei	Adipose
21	chr1:222790400-222791200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
22	chr1:222790400-222791200	Flanking Active TSS	Dnd41	blood
23	chr1:222790400-222791200	Flanking Active TSS	NH-A	brain
24	chr1:222790400-222791600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr1:222790400-222792200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
26	chr1:222790400-222792200	Active TSS	Rectal Mucosa Donor 29	rectum
27	chr1:222790400-222792400	Active TSS	Stomach Smooth Muscle	stomach
28	chr1:222790400-222792600	Active TSS	iPS-20b Cell Line	embryonic stem cell
29	chr1:222790400-222792600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr1:222790400-222792600	Active TSS	Brain Inferior Temporal Lobe	brain
31	chr1:222790400-222792800	Active TSS	H1 Cell Line	embryonic stem cell
32	chr1:222790400-222792800	Active TSS	Ovary	ovary
33	chr1:222790400-222793000	Active TSS	HUES48 Cell Line	embryonic stem cell
34	chr1:222790600-222790800	Flanking Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr1:222790600-222790800	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr1:222790600-222790800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
37	chr1:222790600-222790800	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
38	chr1:222790600-222790800	Flanking Active TSS	Primary T cells from cord blood	blood
39	chr1:222790600-222790800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
40	chr1:222790600-222790800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr1:222790600-222790800	Flanking Active TSS	Brain Anterior Caudate	brain
42	chr1:222790600-222790800	Flanking Active TSS	Colon Smooth Muscle	Colon
43	chr1:222790600-222790800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
44	chr1:222790600-222790800	Flanking Active TSS	Esophagus	oesophagus
45	chr1:222790600-222790800	Flanking Active TSS	Fetal Heart	heart
46	chr1:222790600-222790800	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
47	chr1:222790600-222790800	Enhancers	Gastric	stomach
48	chr1:222790600-222790800	Flanking Active TSS	Left Ventricle	heart
49	chr1:222790600-222790800	Enhancers	Lung	lung
50	chr1:222790600-222790800	Flanking Active TSS	Psoas Muscle	Psoas

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