Variant report

Variant	rs568889052
Chromosome Location	chr1:70821101-70821102
allele	G/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	RELA	chr1:70820046-70821128	GM10847	blood:	n/a	n/a
2	RCOR1	chr1:70819921-70821135	K562	blood:	n/a	n/a
3	USF2	chr1:70820351-70821124	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr1:70819817-70821101	HepG2	liver:	n/a	n/a
5	POLR2A	chr1:70818813-70821108	MCF10A-Er-Src	breast:	n/a	n/a
6	ZNF263	chr1:70819027-70821148	HEK293-T-REx	kidney:	n/a	chr1:70819253-70819262
7	CREB1	chr1:70819831-70821147	HepG2	liver:	n/a	n/a
8	NFIC	chr1:70820117-70821179	GM12878	blood:	n/a	n/a
9	CREB1	chr1:70819969-70821133	H1-hESC	embryonic stem cell:	n/a	n/a
10	REST	chr1:70819030-70821268	H1-neurons	neurons:	n/a	chr1:70820131-70820149
11	POLR2A	chr1:70819089-70821236	IMR90	lung:	n/a	n/a
12	POLR2A	chr1:70819872-70821103	HCT-116	colon:	n/a	n/a
13	RCOR1	chr1:70819035-70821191	K562	blood:	n/a	n/a
14	CREB1	chr1:70819272-70821228	GM12878	blood:	n/a	n/a
15	HA-E2F1	chr1:70819755-70821146	MCF-7	breast:	n/a	n/a
16	POLR2A	chr1:70820141-70821147	K562	blood:	n/a	n/a
17	MYC	chr1:70819479-70821138	K562	blood:	n/a	chr1:70820464-70820474
18	POLR2A	chr1:70819691-70821169	PFSK-1	brain:	n/a	n/a
19	CREB1	chr1:70819881-70821116	GM12878	blood:	n/a	n/a
20	ZBTB33	chr1:70819562-70821101	SK-N-SH	brain:	n/a	chr1:70820440-70820455 chr1:70820405-70820420 chr1:70820407-70820416 chr1:70820408-70820418
21	POLR2A	chr1:70818944-70821239	GM12891	blood:	n/a	n/a
22	SMARCC1	chr1:70819487-70821144	Hela-S3	cervix:	n/a	n/a
23	POLR2A	chr1:70819053-70821497	H1-hESC	embryonic stem cell:	n/a	n/a
24	GABPA	chr1:70820176-70821107	SK-N-SH	brain:	n/a	n/a
25	CREB1	chr1:70820029-70821254	K562	blood:	n/a	n/a
26	POLR2A	chr1:70819063-70821210	GM12878	blood:	n/a	n/a

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	chr1:70819013..70822302-chr1:70824014..70829303,9	MCF-7	breast:
5	chr1:70820419..70821379-chr6:31794911..31795554,2	Hela-S3	cervix:
6	chr1:70685799..70687948-chr1:70819964..70821804,2	MCF-7	breast:
7	chr1:70820321..70821295-chr16:67693740..67694256,2	Hela-S3	cervix:
8	chr1:70686924..70688596-chr1:70820161..70821739,2	MCF-7	breast:
9	chr1:70814842..70821925-chr1:70874223..70879265,8	K562	blood:
10	chr1:70818087..70822177-chr1:70874224..70879265,8	K562	blood:

Variant related genes	Relation type
ANKRD13C	TF binding region
ENSG00000204388	Chromatin interaction
ENSG00000066557	Chromatin interaction
ENSG00000226088	Chromatin interaction
ENSG00000102977	Chromatin interaction
ENSG00000116761	Chromatin interaction
ENSG00000228988	Chromatin interaction
ENSG00000116754	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:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:70817600-70821200	Active TSS	NHLF	lung
2	chr1:70817600-70821400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr1:70817600-70821600	Active TSS	iPS-15b Cell Line	embryonic stem cell
4	chr1:70817600-70822000	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr1:70817800-70821400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:70818000-70821200	Active TSS	Brain Hippocampus Middle	brain
7	chr1:70818000-70821400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr1:70818000-70821400	Active TSS	HUES48 Cell Line	embryonic stem cell
9	chr1:70818000-70821400	Active TSS	HUES64 Cell Line	embryonic stem cell
10	chr1:70818000-70821800	Active TSS	HUES6 Cell Line	embryonic stem cell
11	chr1:70818200-70821200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr1:70818200-70821200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr1:70818200-70821200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
14	chr1:70818200-70821200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr1:70818200-70821200	Active TSS	Aorta	Aorta
16	chr1:70818200-70821200	Active TSS	Psoas Muscle	Psoas
17	chr1:70818200-70821200	Active TSS	Right Atrium	heart
18	chr1:70818200-70821200	Active TSS	Stomach Smooth Muscle	stomach
19	chr1:70818200-70821400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr1:70818200-70821400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr1:70818200-70821400	Active TSS	A549	lung
22	chr1:70818400-70821200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
23	chr1:70818400-70821200	Active TSS	H1 Cell Line	embryonic stem cell
24	chr1:70818400-70821400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr1:70818600-70821200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr1:70818600-70821200	Active TSS	Fetal Stomach	stomach
27	chr1:70818800-70821200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr1:70818800-70821200	Active TSS	Pancreatic Islets	Pancreatic Islet
29	chr1:70818800-70821400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr1:70819000-70821200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr1:70819000-70821200	Active TSS	Fetal Muscle Trunk	muscle
32	chr1:70819000-70821200	Active TSS	Right Ventricle	heart
33	chr1:70819000-70821400	Active TSS	H9 Cell Line	embryonic stem cell
34	chr1:70819200-70821200	Active TSS	Esophagus	oesophagus
35	chr1:70819200-70821200	Active TSS	HUVEC	blood vessel
36	chr1:70819400-70821400	Active TSS	Rectal Smooth Muscle	rectum
37	chr1:70819600-70821200	Active TSS	Placenta	Placenta
38	chr1:70820200-70821200	Active TSS	Brain Germinal Matrix	brain
39	chr1:70820400-70821200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr1:70820400-70821200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
41	chr1:70820400-70821400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr1:70820600-70821200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
43	chr1:70820600-70821200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
44	chr1:70820600-70821200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
45	chr1:70820600-70821200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
46	chr1:70820600-70821200	Flanking Active TSS	Brain Angular Gyrus	brain
47	chr1:70820600-70821200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
48	chr1:70820600-70821200	Flanking Active TSS	Fetal Intestine Small	intestine
49	chr1:70820600-70821200	Flanking Active TSS	Fetal Muscle Leg	muscle
50	chr1:70820600-70821200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle

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