Variant report

Variant	rs112366470
Chromosome Location	chr3:142682609-142682610
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	POLR2A	chr3:142682374-142683209	HepG2	liver:	n/a	n/a
2	JUND	chr3:142682283-142682886	A549	lung:	n/a	n/a
3	GTF3C2	chr3:142682419-142683014	K562	blood:	n/a	n/a
4	RCOR1	chr3:142682560-142683140	K562	blood:	n/a	n/a
5	MAX	chr3:142682257-142682976	K562	blood:	n/a	chr3:142682825-142682834
6	CCNT2	chr3:142682282-142683220	K562	blood:	n/a	n/a
7	YY1	chr3:142682334-142682856	K562	blood:	n/a	chr3:142682537-142682551 chr3:142682773-142682787 chr3:142682770-142682779 chr3:142682542-142682553 chr3:142682543-142682557 chr3:142682548-142682557 chr3:142682745-142682759 chr3:142682709-142682723 chr3:142682539-142682550 chr3:142682542-142682551 chr3:142682715-142682729 chr3:142682545-142682554
8	E2F6	chr3:142682319-142682903	A549	lung:	n/a	chr3:142682642-142682651 chr3:142682543-142682553 chr3:142682546-142682556 chr3:142682773-142682782
9	TAF1	chr3:142682267-142682840	H1-hESC	embryonic stem cell:	n/a	n/a
10	TBP	chr3:142682342-142682877	K562	blood:	n/a	n/a
11	REST	chr3:142681914-142683570	H1-neurons	neurons:	n/a	n/a
12	POLR2A	chr3:142682454-142682744	H1-hESC	embryonic stem cell:	n/a	n/a
13	TAF1	chr3:142682458-142683343	H1-neurons	neurons:	n/a	n/a
14	POLR2A	chr3:142681583-142683285	PBDE	blood:	n/a	n/a
15	CHD2	chr3:142682606-142682990	K562	blood:	n/a	n/a
16	HDAC2	chr3:142682469-142682884	HepG2	liver:	n/a	n/a
17	POLR2A	chr3:142682366-142682660	A549	lung:	n/a	n/a
18	MAX	chr3:142682234-142683436	H1-hESC	embryonic stem cell:	n/a	chr3:142682825-142682834
19	CREB1	chr3:142682537-142683438	H1-hESC	embryonic stem cell:	n/a	n/a
20	HEY1	chr3:142682297-142682916	HepG2	liver:	n/a	chr3:142682541-142682556 chr3:142682538-142682553 chr3:142682544-142682559
21	CREB1	chr3:142682486-142683471	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr3:142682486-142682874	HepG2	liver:	n/a	n/a
23	POLR2A	chr3:142682466-142682720	HepG2	liver:	n/a	n/a
24	MAX	chr3:142682384-142682914	K562	blood:	n/a	chr3:142682825-142682834
25	YY1	chr3:142682304-142682690	K562	blood:	n/a	chr3:142682537-142682551 chr3:142682542-142682553 chr3:142682543-142682557 chr3:142682548-142682557 chr3:142682539-142682550 chr3:142682542-142682551 chr3:142682545-142682554
26	POLR2A	chr3:142682496-142682705	HepG2	liver:	n/a	n/a
27	HEY1	chr3:142682152-142682921	HepG2	liver:	n/a	chr3:142682541-142682556 chr3:142682538-142682553 chr3:142682544-142682559
28	POLR2A	chr3:142682296-142682881	K562	blood:	n/a	n/a
29	TAF1	chr3:142681826-142682870	H1-hESC	embryonic stem cell:	n/a	n/a
30	EP300	chr3:142682472-142682838	HepG2	liver:	n/a	chr3:142682543-142682552 chr3:142682745-142682754 chr3:142682543-142682559 chr3:142682548-142682557
31	TBP	chr3:142682583-142683343	H1-hESC	embryonic stem cell:	n/a	n/a
32	MAX	chr3:142682206-142683317	H1-hESC	embryonic stem cell:	n/a	chr3:142682825-142682834
33	HMGN3	chr3:142681685-142683281	K562	blood:	n/a	n/a
34	POLR2A	chr3:142682329-142682908	A549	lung:	n/a	n/a
35	POLR2A	chr3:142682428-142682967	A549	lung:	n/a	n/a
36	MAX	chr3:142682117-142683289	HepG2	liver:	n/a	chr3:142682825-142682834
37	ZBTB7A	chr3:142682589-142682881	HepG2	liver:	n/a	n/a
38	POLR2A	chr3:142682346-142682941	A549	lung:	n/a	n/a
39	HEY1	chr3:142682310-142682884	K562	blood:	n/a	chr3:142682541-142682556 chr3:142682538-142682553 chr3:142682544-142682559
40	CHD2	chr3:142682452-142682822	HepG2	liver:	n/a	n/a
41	EP300	chr3:142682229-142682897	ECC-1	luminal epithelium:	n/a	chr3:142682543-142682552 chr3:142682745-142682754 chr3:142682543-142682559 chr3:142682548-142682557
42	YY1	chr3:142681850-142682987	HepG2	liver:	n/a	chr3:142682537-142682551 chr3:142682773-142682787 chr3:142682770-142682779 chr3:142682542-142682553 chr3:142682543-142682557 chr3:142682548-142682557 chr3:142682745-142682759 chr3:142682709-142682723 chr3:142682539-142682550 chr3:142682542-142682551 chr3:142682715-142682729 chr3:142682545-142682554
43	POLR2A	chr3:142682560-142682825	K562	blood:	n/a	n/a
44	E2F6	chr3:142682298-142683261	K562	blood:	n/a	chr3:142682642-142682651 chr3:142682543-142682553 chr3:142682546-142682556 chr3:142682773-142682782
45	ELF1	chr3:142682541-142683200	K562	blood:	n/a	chr3:142682542-142682551 chr3:142682745-142682757 chr3:142682545-142682554 chr3:142682547-142682559 chr3:142682770-142682779 chr3:142682541-142682553
46	TAF1	chr3:142682375-142682769	HepG2	liver:	n/a	n/a
47	POLR2A	chr3:142682303-142683540	H1-hESC	embryonic stem cell:	n/a	n/a
48	MAX	chr3:142682402-142682859	ECC-1	luminal epithelium:	n/a	chr3:142682825-142682834
49	MAZ	chr3:142682483-142682852	HepG2	liver:	n/a	chr3:142682825-142682834
50	POLR2A	chr3:142682244-142682869	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:142681877..142683958-chr3:142718843..142721049,2	K562	blood:

Variant related genes	Relation type
U2SURP	TF binding region
PAQR9	TF binding region
ENSG00000241570	TF binding region
ENSG00000268129	Chromatin interaction
ENSG00000163714	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	nsv877562	chr3:142573789-142846370	Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv877563	chr3:142661350-142743889	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	esv3443662	chr3:142681287-142684135	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
4	esv3388028	chr3:142681537-142683935	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats Genic enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:142681000-142683600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
2	chr3:142681400-142683400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
3	chr3:142681400-142683400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
4	chr3:142681400-142683600	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr3:142681400-142683600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr3:142681400-142683600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
7	chr3:142681600-142683000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
8	chr3:142681600-142683000	Active TSS	Psoas Muscle	Psoas
9	chr3:142681600-142683200	Bivalent/Poised TSS	Brain Germinal Matrix	brain
10	chr3:142681600-142683400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr3:142681600-142683400	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
12	chr3:142681600-142683400	Bivalent/Poised TSS	NHEK	skin
13	chr3:142681600-142683600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
14	chr3:142681600-142683600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr3:142681600-142683800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
16	chr3:142681800-142682800	Flanking Active TSS	Primary hematopoietic stem cells	blood
17	chr3:142681800-142682800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr3:142681800-142683000	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
19	chr3:142681800-142683000	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
20	chr3:142681800-142683000	Bivalent/Poised TSS	HSMM	muscle
21	chr3:142681800-142683000	Bivalent/Poised TSS	HUVEC	blood vessel
22	chr3:142681800-142683200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
23	chr3:142681800-142683200	Active TSS	Fetal Brain Female	brain
24	chr3:142681800-142683400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr3:142681800-142683400	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr3:142681800-142683400	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
27	chr3:142681800-142683400	Active TSS	Brain Angular Gyrus	brain
28	chr3:142681800-142683400	Bivalent/Poised TSS	Fetal Kidney	kidney
29	chr3:142681800-142683400	Active TSS	Left Ventricle	heart
30	chr3:142681800-142683400	Bivalent/Poised TSS	NHLF	lung
31	chr3:142681800-142683800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
32	chr3:142682000-142682800	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
33	chr3:142682000-142682800	Bivalent/Poised TSS	Primary T regulatory cells fromperipheralblood	blood
34	chr3:142682000-142682800	Bivalent/Poised TSS	Ovary	ovary
35	chr3:142682000-142683000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr3:142682000-142683000	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr3:142682000-142683000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr3:142682000-142683000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr3:142682000-142683000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
40	chr3:142682000-142683000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr3:142682000-142683000	Active TSS	Cortex derived primary cultured neurospheres	brain
42	chr3:142682000-142683000	Active TSS	Aorta	Aorta
43	chr3:142682000-142683000	Active TSS	Liver	Liver
44	chr3:142682000-142683000	Active TSS	Gastric	stomach
45	chr3:142682000-142683000	Active TSS	Skeletal Muscle Male	skeletal muscle
46	chr3:142682000-142683000	Active TSS	A549	lung
47	chr3:142682000-142683000	Active TSS	HepG2	liver
48	chr3:142682000-142683000	Active TSS	NH-A	brain
49	chr3:142682000-142683200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr3:142682000-142683200	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin

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