Variant report

Variant	rs182375563
Chromosome Location	chr1:70820998-70820999
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:93)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:93 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:70820085-70821098	K562	blood:	n/a	n/a
2	EP300	chr1:70820237-70821093	K562	blood:	n/a	n/a
3	GABPA	chr1:70820080-70821044	HL-60	blood:	n/a	n/a
4	RELA	chr1:70820046-70821128	GM10847	blood:	n/a	n/a
5	TBP	chr1:70819690-70821073	K562	blood:	n/a	n/a
6	MAFK	chr1:70820154-70821052	HepG2	liver:	n/a	n/a
7	RCOR1	chr1:70819921-70821135	K562	blood:	n/a	n/a
8	POLR2A	chr1:70819335-70821040	Hela-S3	cervix:	n/a	n/a
9	USF2	chr1:70820351-70821124	Hela-S3	cervix:	n/a	n/a
10	MTA3	chr1:70819448-70821088	GM12878	blood:	n/a	n/a
11	JUND	chr1:70819849-70821087	K562	blood:	n/a	n/a
12	GABPA	chr1:70820196-70821066	SK-N-SH	brain:	n/a	n/a
13	POLR2A	chr1:70819817-70821101	HepG2	liver:	n/a	n/a
14	TEAD4	chr1:70820081-70821012	K562	blood:	n/a	n/a
15	ATF2	chr1:70820147-70821014	GM12878	blood:	n/a	n/a
16	TBL1XR1	chr1:70820308-70821002	K562	blood:	n/a	n/a
17	CHD2	chr1:70819276-70821003	K562	blood:	n/a	chr1:70820407-70820416
18	POLR2A	chr1:70818813-70821108	MCF10A-Er-Src	breast:	n/a	n/a
19	POLR2A	chr1:70819206-70821087	GM12892	blood:	n/a	n/a
20	POLR2A	chr1:70819376-70821015	PBDE	blood:	n/a	n/a
21	NR2F2	chr1:70820162-70821022	K562	blood:	n/a	n/a
22	POU2F2	chr1:70820020-70821008	GM12878	blood:	n/a	n/a
23	KAP1	chr1:70820188-70821099	U2OS	brain:	n/a	n/a
24	ZNF263	chr1:70819027-70821148	HEK293-T-REx	kidney:	n/a	chr1:70819253-70819262
25	RUNX3	chr1:70819801-70821017	GM12878	blood:	n/a	n/a
26	CREB1	chr1:70820042-70821059	K562	blood:	n/a	n/a
27	CREB1	chr1:70819831-70821147	HepG2	liver:	n/a	n/a
28	POLR2A	chr1:70820023-70821022	PFSK-1	brain:	n/a	n/a
29	TAF1	chr1:70819699-70821021	ECC-1	luminal epithelium:	n/a	n/a
30	YY1	chr1:70819763-70821010	SK-N-SH	brain:	n/a	chr1:70820092-70820101 chr1:70820382-70820402 chr1:70820386-70820394
31	ATF2	chr1:70820087-70821010	GM12878	blood:	n/a	n/a
32	WRNIP1	chr1:70819154-70821089	GM12878	blood:	n/a	n/a
33	CREB1	chr1:70820005-70821032	H1-hESC	embryonic stem cell:	n/a	n/a
34	CHD1	chr1:70819051-70821083	H1-hESC	embryonic stem cell:	n/a	chr1:70820407-70820416
35	TCF12	chr1:70819957-70821002	A549	lung:	n/a	n/a
36	JUND	chr1:70820245-70821004	HepG2	liver:	n/a	n/a
37	TAL1	chr1:70820180-70821047	K562	blood:	n/a	n/a
38	MAX	chr1:70819998-70821014	HepG2	liver:	n/a	chr1:70820464-70820474
39	ZBTB33	chr1:70819811-70821072	SK-N-SH	brain:	n/a	chr1:70820440-70820455 chr1:70820405-70820420 chr1:70820407-70820416 chr1:70820408-70820418
40	MTA3	chr1:70819900-70820998	GM12878	blood:	n/a	n/a
41	NFIC	chr1:70820117-70821179	GM12878	blood:	n/a	n/a
42	POLR2A	chr1:70819947-70821013	HUVEC	blood vessel:	n/a	n/a
43	CREB1	chr1:70819969-70821133	H1-hESC	embryonic stem cell:	n/a	n/a
44	REST	chr1:70819030-70821268	H1-neurons	neurons:	n/a	chr1:70820131-70820149
45	CBX3	chr1:70819972-70821023	K562	blood:	n/a	n/a
46	MAX	chr1:70819958-70821069	HCT-116	colon:	n/a	chr1:70820464-70820474
47	GTF2F1	chr1:70820153-70821028	Hela-S3	cervix:	n/a	n/a
48	POLR2A	chr1:70819089-70821236	IMR90	lung:	n/a	n/a
49	POLR2A	chr1:70819384-70821029	K562	blood:	n/a	n/a
50	MAX	chr1:70819386-70821013	GM12878	blood:	n/a	chr1:70820464-70820474

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:70686799..70688622-chr1:70819236..70822047,3	K562	blood:
2	chr1:70670191..70673421-chr1:70819814..70822311,3	K562	blood:
3	chr1:70819015..70821620-chr1:70875663..70878848,3	MCF-7	breast:
4	chr1:70820288..70821043-chr14:55878152..55878652,2	Hela-S3	cervix:
5	chr1:70819013..70822302-chr1:70824014..70829303,9	MCF-7	breast:
6	chr1:70820419..70821379-chr6:31794911..31795554,2	Hela-S3	cervix:
7	chr1:70820288..70821087-chr12:13044176..13045013,2	Hela-S3	cervix:
8	chr1:70685799..70687948-chr1:70819964..70821804,2	MCF-7	breast:
9	chr1:70820321..70821295-chr16:67693740..67694256,2	Hela-S3	cervix:
10	chr1:70686924..70688596-chr1:70820161..70821739,2	MCF-7	breast:
11	chr1:70814842..70821925-chr1:70874223..70879265,8	K562	blood:
12	chr1:40506025..40506869-chr1:70820330..70820998,2	Hela-S3	cervix:
13	chr1:70818087..70822177-chr1:70874224..70879265,8	K562	blood:

No data

Variant related genes	Relation type
ANKRD13C	TF binding region
ENSG00000116754	Chromatin interaction
ENSG00000066557	Chromatin interaction
ENSG00000102977	Chromatin interaction
ENSG00000126775	Chromatin interaction
ENSG00000226088	Chromatin interaction
ENSG00000131236	Chromatin interaction
ENSG00000204388	Chromatin interaction
ENSG00000228988	Chromatin interaction
ENSG00000013588	Chromatin interaction
ENSG00000116761	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	nsv999219	chr1:70730556-71014911	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
2	nsv1012563	chr1:70753332-70832118	Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	esv1801665	chr1:70755511-70832053	Active TSS Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
4	nsv830137	chr1:70765921-70958718	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
5	esv11736	chr1:70820591-70825114	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	27 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	chr1:70817000-70821000	Active TSS	Fetal Brain Female	brain
2	chr1:70817600-70821200	Active TSS	NHLF	lung
3	chr1:70817600-70821400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr1:70817600-70821600	Active TSS	iPS-15b Cell Line	embryonic stem cell
5	chr1:70817600-70822000	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr1:70817800-70821400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:70818000-70821200	Active TSS	Brain Hippocampus Middle	brain
8	chr1:70818000-70821400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr1:70818000-70821400	Active TSS	HUES48 Cell Line	embryonic stem cell
10	chr1:70818000-70821400	Active TSS	HUES64 Cell Line	embryonic stem cell
11	chr1:70818000-70821800	Active TSS	HUES6 Cell Line	embryonic stem cell
12	chr1:70818200-70821000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
13	chr1:70818200-70821000	Active TSS	Ovary	ovary
14	chr1:70818200-70821000	Active TSS	HSMM	muscle
15	chr1:70818200-70821200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr1:70818200-70821200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr1:70818200-70821200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
18	chr1:70818200-70821200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr1:70818200-70821200	Active TSS	Aorta	Aorta
20	chr1:70818200-70821200	Active TSS	Psoas Muscle	Psoas
21	chr1:70818200-70821200	Active TSS	Right Atrium	heart
22	chr1:70818200-70821200	Active TSS	Stomach Smooth Muscle	stomach
23	chr1:70818200-70821400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr1:70818200-70821400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr1:70818200-70821400	Active TSS	A549	lung
26	chr1:70818400-70821000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr1:70818400-70821000	Active TSS	Fetal Intestine Large	intestine
28	chr1:70818400-70821200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
29	chr1:70818400-70821200	Active TSS	H1 Cell Line	embryonic stem cell
30	chr1:70818400-70821400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr1:70818600-70821000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr1:70818600-70821200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr1:70818600-70821200	Active TSS	Fetal Stomach	stomach
34	chr1:70818800-70821200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr1:70818800-70821200	Active TSS	Pancreatic Islets	Pancreatic Islet
36	chr1:70818800-70821400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr1:70819000-70821000	Active TSS	iPS-20b Cell Line	embryonic stem cell
38	chr1:70819000-70821000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr1:70819000-70821000	Active TSS	Colonic Mucosa	Colon
40	chr1:70819000-70821000	Active TSS	Left Ventricle	heart
41	chr1:70819000-70821200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr1:70819000-70821200	Active TSS	Fetal Muscle Trunk	muscle
43	chr1:70819000-70821200	Active TSS	Right Ventricle	heart
44	chr1:70819000-70821400	Active TSS	H9 Cell Line	embryonic stem cell
45	chr1:70819200-70821000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr1:70819200-70821000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
47	chr1:70819200-70821000	Active TSS	Gastric	stomach
48	chr1:70819200-70821000	Active TSS	Lung	lung
49	chr1:70819200-70821200	Active TSS	Esophagus	oesophagus
50	chr1:70819200-70821200	Active TSS	HUVEC	blood vessel

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