Variant report

Variant	rs142156224
Chromosome Location	chr1:93299017-93299018
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:18)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:18 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SIN3AK20	chr1:93298991-93299241	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr1:93297355-93300997	K562	blood:	n/a	n/a
3	SIN3A	chr1:93297351-93299078	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr1:93299000-93299031	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr1:93298904-93299594	MCF10A-Er-Src	breast:	n/a	n/a
6	MXI1	chr1:93297366-93299556	IMR90	lung:	n/a	n/a
7	POLR2A	chr1:93297233-93299346	MCF10A-Er-Src	breast:	n/a	n/a
8	POLR2A	chr1:93297218-93301331	PFSK-1	brain:	n/a	n/a
9	POLR2A	chr1:93298865-93299374	HepG2	liver:	n/a	n/a
10	SP1	chr1:93299011-93299297	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr1:93298970-93299304	SK-N-SH	brain:	n/a	n/a
12	POLR2A	chr1:93298922-93300040	SK-N-MC	brain:	n/a	n/a
13	REST	chr1:93299017-93299260	Hela-S3	cervix:	n/a	n/a
14	CHD1	chr1:93297637-93299369	H1-hESC	embryonic stem cell:	n/a	chr1:93297859-93297869
15	POLR2A	chr1:93297255-93300912	GM12878	blood:	n/a	n/a
16	POLR2A	chr1:93298947-93301091	H1-hESC	embryonic stem cell:	n/a	n/a
17	CHD1	chr1:93297387-93299063	GM12878	blood:	n/a	chr1:93297859-93297869
18	POLR2A	chr1:93297107-93299950	PFSK-1	brain:	n/a	n/a

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:92830903..92832617-chr1:93298801..93301374,2	MCF-7	breast:
2	chr1:93248724..93252766-chr1:93297083..93300077,5	MCF-7	breast:
3	chr1:93220670..93222907-chr1:93296640..93299176,3	MCF-7	breast:
4	chr1:93296297..93299381-chr1:93425183..93428047,4	K562	blood:
5	chr1:93212530..93215412-chr1:93297450..93301173,3	K562	blood:
6	chr1:93249660..93252667-chr1:93296431..93299077,5	K562	blood:
7	chr1:93256019..93258677-chr1:93296885..93300584,5	K562	blood:
8	chr1:93249360..93255989-chr1:93295958..93302033,8	K562	blood:
9	chr1:93256221..93258760-chr1:93295783..93299962,5	K562	blood:
10	chr1:93297720..93299529-chr17:81006812..81009425,2	MCF-7	breast:
11	chr1:92764074..92765656-chr1:93296705..93299037,2	K562	blood:
12	chr1:93296076..93299049-chr1:93541677..93546567,5	K562	blood:
13	chr1:93296314..93299115-chr1:93644282..93648010,4	K562	blood:
14	chr1:93296486..93299108-chr1:93543311..93545320,3	K562	blood:

No data

Variant related genes	Relation type
RPL5	TF binding region
ENSG00000251795	TF binding region
SNORD21	TF binding region
ENSG00000175711	Chromatin interaction
ENSG00000234202	Chromatin interaction
ENSG00000117500	Chromatin interaction
ENSG00000067208	Chromatin interaction
ENSG00000223896	Chromatin interaction
ENSG00000154511	Chromatin interaction
ENSG00000143033	Chromatin interaction
ENSG00000122484	Chromatin interaction
ENSG00000122483	Chromatin interaction
ENSG00000174842	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	nsv1008602	chr1:93176811-93640808	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv530047	chr1:93273425-93308213	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv508393	chr1:93290513-93344924	Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv946076	chr1:93298464-93299689	Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Strong transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region miRNA target site	13 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	chr1:93297000-93299200	Active TSS	iPS-15b Cell Line	embryonic stem cell
2	chr1:93297000-93299200	Active TSS	Breast Myoepithelial Primary Cells	Breast
3	chr1:93297000-93299200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr1:93297000-93299200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
5	chr1:93297000-93299200	Active TSS	NHLF	lung
6	chr1:93297000-93299400	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr1:93297000-93300000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr1:93297200-93299200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr1:93297200-93299200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr1:93297200-93299200	Active TSS	GM12878-XiMat	blood
11	chr1:93297200-93299400	Active TSS	Brain Inferior Temporal Lobe	brain
12	chr1:93297200-93299400	Active TSS	Duodenum Smooth Muscle	Duodenum
13	chr1:93297400-93299200	Active TSS	H9 Cell Line	embryonic stem cell
14	chr1:93297400-93299200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr1:93297400-93299200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
16	chr1:93297400-93299200	Active TSS	Brain Hippocampus Middle	brain
17	chr1:93297400-93299200	Active TSS	Brain Substantia Nigra	brain
18	chr1:93297400-93299200	Active TSS	Fetal Muscle Leg	muscle
19	chr1:93297400-93299200	Active TSS	Fetal Thymus	thymus
20	chr1:93297400-93299200	Active TSS	Right Ventricle	heart
21	chr1:93297400-93299200	Active TSS	HSMMtube	muscle
22	chr1:93297400-93299400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr1:93297400-93299400	Active TSS	Colonic Mucosa	Colon
24	chr1:93297400-93299400	Active TSS	Fetal Intestine Large	intestine
25	chr1:93297600-93299200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
26	chr1:93297600-93299400	Active TSS	Gastric	stomach
27	chr1:93297600-93299400	Active TSS	Ovary	ovary
28	chr1:93297600-93299600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr1:93297600-93299600	Active TSS	Aorta	Aorta
30	chr1:93297600-93299800	Active TSS	Psoas Muscle	Psoas
31	chr1:93297600-93301000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
32	chr1:93297600-93302800	Transcr. at gene 5' and 3'	Dnd41	blood
33	chr1:93297800-93299800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr1:93297800-93302600	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
35	chr1:93298000-93299400	Active TSS	Right Atrium	heart
36	chr1:93298000-93300800	Transcr. at gene 5' and 3'	A549	lung
37	chr1:93298200-93299200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr1:93298200-93300000	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
39	chr1:93298200-93300800	Transcr. at gene 5' and 3'	K562	blood
40	chr1:93298200-93301000	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
41	chr1:93298400-93299200	Flanking Active TSS	Primary T cells from cord blood	blood
42	chr1:93298400-93299200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
43	chr1:93298400-93299200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr1:93298400-93299200	Flanking Active TSS	Duodenum Mucosa	Duodenum
45	chr1:93298400-93299400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
46	chr1:93298400-93299400	Flanking Active TSS	Adipose Nuclei	Adipose
47	chr1:93298400-93300600	Transcr. at gene 5' and 3'	Osteobl	bone
48	chr1:93298400-93300800	Transcr. at gene 5' and 3'	NHEK	skin
49	chr1:93298400-93301000	Transcr. at gene 5' and 3'	Hela-S3	cervix
50	chr1:93298400-93301600	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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