Variant report

Variant	rs577218923
Chromosome Location	chr3:142839028-142839029
allele	C/G
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	UBTF	chr3:142837331-142839986	K562	blood:	n/a	n/a
2	POLR2A	chr3:142837413-142839052	K562	blood:	n/a	n/a
3	POLR2A	chr3:142838900-142839265	GM12891	blood:	n/a	n/a
4	POLR2A	chr3:142837303-142839328	K562	blood:	n/a	n/a
5	CREB1	chr3:142837717-142839100	GM12878	blood:	n/a	n/a
6	ZNF263	chr3:142837735-142839609	HEK293-T-REx	kidney:	n/a	chr3:142839428-142839437
7	POLR2A	chr3:142837773-142841232	GM19193	blood:	n/a	n/a
8	POLR2A	chr3:142837235-142842973	GM12878	blood:	n/a	n/a
9	REST	chr3:142838406-142839406	H1-neurons	neurons:	n/a	chr3:142838875-142838884 chr3:142839356-142839366 chr3:142839020-142839030 chr3:142839154-142839167
10	POLR2A	chr3:142837371-142841744	GM12892	blood:	n/a	n/a
11	POLR2A	chr3:142837327-142842927	GM12891	blood:	n/a	n/a
12	POLR2A	chr3:142836914-142843085	GM12891	blood:	n/a	n/a
13	E2F4	chr3:142837855-142839159	K562	blood:	n/a	chr3:142838688-142838696 chr3:142838683-142838698 chr3:142838425-142838435 chr3:142838688-142838696 chr3:142838914-142838924 chr3:142838688-142838695 chr3:142838911-142838921 chr3:142838694-142838704 chr3:142838688-142838695 chr3:142838688-142838695 chr3:142838697-142838707 chr3:142838917-142838927 chr3:142838687-142838697 chr3:142838700-142838710
14	POLR2A	chr3:142837796-142841213	GM12878	blood:	n/a	n/a
15	PML	chr3:142837665-142840120	GM12878	blood:	n/a	n/a
16	CTCF	chr3:142838980-142839130	GM12866	blood:	n/a	n/a
17	POLR2A	chr3:142837397-142840013	GM12892	blood:	n/a	n/a
18	POLR2A	chr3:142837372-142842950	GM12891	blood:	n/a	n/a
19	ZBTB7A	chr3:142837837-142839574	ECC-1	luminal epithelium:	n/a	n/a
20	POLR2A	chr3:142837824-142840822	GM12878	blood:	n/a	n/a
21	E2F6	chr3:142838899-142840803	H1-hESC	embryonic stem cell:	n/a	chr3:142838914-142838924 chr3:142838911-142838921 chr3:142839536-142839546 chr3:142839574-142839584 chr3:142839630-142839639 chr3:142839543-142839552 chr3:142838917-142838927
22	POLR2A	chr3:142838257-142839048	U87	brain:	n/a	n/a
23	CHD1	chr3:142838568-142839462	GM12878	blood:	n/a	n/a
24	MAX	chr3:142838997-142839090	GM12878	blood:	n/a	n/a
25	NANOG	chr3:142838833-142839087	H1-hESC	embryonic stem cell:	n/a	n/a
26	EP300	chr3:142838483-142839057	H1-hESC	embryonic stem cell:	n/a	chr3:142838698-142838707 chr3:142838596-142838612 chr3:142838917-142838926 chr3:142838695-142838704 chr3:142838753-142838769 chr3:142838914-142838923
27	SIN3A	chr3:142837580-142840494	H1-hESC	embryonic stem cell:	n/a	chr3:142839059-142839070 chr3:142839574-142839587 chr3:142839203-142839214 chr3:142838852-142838863 chr3:142839021-142839030
28	MAX	chr3:142838103-142839488	H1-hESC	embryonic stem cell:	n/a	n/a
29	POLR2A	chr3:142837371-142840452	GM12892	blood:	n/a	n/a
30	HDAC2	chr3:142839013-142839298	K562	blood:	n/a	n/a
31	SIN3AK20	chr3:142838978-142839520	H1-hESC	embryonic stem cell:	n/a	n/a
32	HMGN3	chr3:142837835-142840246	K562	blood:	n/a	n/a
33	CTCF	chr3:142838920-142839070	GM12875	blood:	n/a	n/a
34	POLR2A	chr3:142837711-142839167	HUVEC	blood vessel:	n/a	n/a
35	POLR2A	chr3:142837850-142839120	HUVEC	blood vessel:	n/a	n/a
36	POLR2A	chr3:142838554-142839029	U87	brain:	n/a	n/a
37	RUNX3	chr3:142837697-142840604	GM12878	blood:	n/a	n/a
38	CTCF	chr3:142838960-142839110	HPF	lung:	n/a	n/a
39	MTA3	chr3:142837353-142839597	GM12878	blood:	n/a	n/a
40	PAX5	chr3:142838058-142840101	GM12892	blood:	n/a	n/a
41	CHD2	chr3:142837662-142839049	K562	blood:	n/a	n/a
42	RUNX3	chr3:142838501-142839281	GM12878	blood:	n/a	n/a
43	UBTF	chr3:142837118-142840212	K562	blood:	n/a	n/a
44	POLR2A	chr3:142837700-142841323	K562	blood:	n/a	n/a
45	TAF1	chr3:142837664-142839044	K562	blood:	n/a	n/a
46	CTCF	chr3:142838960-142839110	GM12874	blood:	n/a	n/a
47	POLR2A	chr3:142837874-142839300	GM18951	blood:	n/a	n/a
48	CTCF	chr3:142838960-142839110	GM12878	blood:	n/a	n/a
49	ZBTB7A	chr3:142837837-142839530	ECC-1	luminal epithelium:	n/a	n/a
50	ZNF143	chr3:142838980-142840529	GM12878	blood:	n/a	chr3:142839542-142839552

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:142839022-142839072	HCM	heart:	n/a
2	chr3:142839022-142839072	NH-A	brain:	n/a
3	chr3:142839022-142839072	HRE	kidney:	n/a
4	chr3:142839022-142839072	ovcar-3	ovarian:	n/a
5	chr3:142839022-142839072	U87	brain:	n/a
6	chr3:142839022-142839072	CMK	blood:	n/a
7	chr3:142839022-142839072	HepG2	liver:	n/a
8	chr3:142839022-142839072	Hepatocyte	liver:	n/a
9	chr3:142839022-142839072	IMR90	lung:	fetal
10	chr3:142839022-142839072	H1-hESC	embryonic stem cell:	embryo
11	chr3:142839022-142839072	GM12891	blood:	n/a
12	chr3:142839022-142839072	AG09319	gingival:	n/a
13	chr3:142839022-142839072	GM12878	blood:	n/a
14	chr3:142839022-142839072	GM12892	blood:	n/a
15	chr3:142839022-142839072	HRPEpiC	eye:	n/a
16	chr3:142839022-142839072	PFSK-1	brain:	n/a
17	chr3:142839022-142839072	NB4	blood:	n/a
18	chr3:142839022-142839072	SKMC	muscle:	n/a
19	chr3:142839022-142839072	NHDF-neo	bronchial:	n/a
20	chr3:142839022-142839072	Caco-2	colon:	n/a
21	chr3:142839022-142839072	AG04450	lung:	fetal
22	chr3:142839022-142839072	MCF-7	breast:	n/a
23	chr3:142839022-142839072	BJ	skin:	n/a
24	chr3:142839022-142839072	Hela-S3	cervix:	n/a
25	chr3:142839022-142839072	AG10803	skin:	n/a
26	chr3:142839022-142839072	PANC-1	pancreas:	n/a
27	chr3:142839022-142839072	LNCaP	prostate:	n/a
28	chr3:142839022-142839072	HEK293	kidney:	embryo
29	chr3:142839022-142839072	GM19239	blood:	n/a
30	chr3:142839022-142839072	HEEpiC	esophagus:	n/a
31	chr3:142839022-142839072	HCPEpiC	choroid plexus:	n/a
32	chr3:142839022-142839072	SK-N-MC	brain:	n/a
33	chr3:142839022-142839072	SAEC	small airway:	n/a
34	chr3:142839022-142839072	NT2-D1	testis:	n/a
35	chr3:142839022-142839072	Jurkat	blood:	n/a
36	chr3:142839022-142839072	A549	lung:	n/a
37	chr3:142839022-142839072	SK-N-SH_RA	brain:	n/a
38	chr3:142839022-142839072	HCT-116	colon:	n/a
39	chr3:142839022-142839072	GM06990	blood:	n/a
40	chr3:142839022-142839072	HUVEC	blood vessel:	n/a
41	chr3:142839022-142839072	HCF	heart:	n/a
42	chr3:142839022-142839072	HIPEpiC	eye:	n/a
43	chr3:142839022-142839072	HAEpiC	amniotic membrane:	n/a
44	chr3:142839022-142839072	ECC-1	luminal epithelium:	n/a
45	chr3:142839022-142839072	ProgFib	skin:	n/a
46	chr3:142839022-142839072	SK-N-SH	brain:	n/a
47	chr3:142839022-142839072	K562	blood:	n/a
48	chr3:142839022-142839072	BE2_C	brain:	n/a
49	chr3:142839022-142839072	HPAEpiC	pulmonary alveolar:	n/a
50	chr3:142839022-142839072	PrEC	prostate:	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:142777135..142778996-chr3:142838578..142841035,2	K562	blood:
2	chr3:142795942..142798929-chr3:142838470..142841083,3	K562	blood:
3	chr3:142760861..142763721-chr3:142838517..142840129,2	K562	blood:
4	chr3:142546469..142548561-chr3:142838535..142840408,2	K562	blood:
5	chr3:142295506..142297981-chr3:142837321..142839389,2	K562	blood:
6	chr3:142719801..142721977-chr3:142838395..142840175,2	K562	blood:
7	chr3:142772025..142774338-chr3:142838383..142839930,2	K562	blood:
8	chr3:142729466..142732055-chr3:142838748..142841571,2	K562	blood:
9	chr3:142755305..142760138-chr3:142835756..142840820,6	K562	blood:
10	chr3:142838518..142840970-chr3:143064617..143066302,2	K562	blood:

Variant related genes	Relation type
ENSG00000241679	TF binding region
ENSG00000241679	CpG island
ENSG00000175054	Chromatin interaction
ENSG00000163714	Chromatin interaction
ENSG00000240950	Chromatin interaction
ENSG00000268129	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 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	esv2757893	chr3:142720230-142962932	Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	esv2759183	chr3:142720230-142964373	Strong transcription Weak transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv591921	chr3:142762487-142841740	Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	nsv949288	chr3:142793323-143585882	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	nsv1007164	chr3:142837004-142891719	Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	esv3438597	chr3:142838687-142841235	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:142836600-142839200	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr3:142837000-142840400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
3	chr3:142837200-142840600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
4	chr3:142837400-142839400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
5	chr3:142837400-142839800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
6	chr3:142837400-142840200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr3:142837400-142840400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr3:142837400-142840400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr3:142837400-142840600	Active TSS	H9 Cell Line	embryonic stem cell
10	chr3:142837600-142839400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr3:142837600-142839600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr3:142837600-142839800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr3:142837600-142840200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr3:142837600-142840200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr3:142837600-142840200	Active TSS	Right Atrium	heart
16	chr3:142837600-142840200	Active TSS	K562	blood
17	chr3:142837600-142840400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr3:142837600-142840400	Active TSS	Primary T killer memory cells from peripheral blood	blood
19	chr3:142837600-142840400	Active TSS	Brain Hippocampus Middle	brain
20	chr3:142837600-142840400	Active TSS	Brain Substantia Nigra	brain
21	chr3:142837600-142840400	Active TSS	Pancreatic Islets	Pancreatic Islet
22	chr3:142837600-142840400	Active TSS	HSMMtube	muscle
23	chr3:142837600-142840400	Active TSS	NHDF-Ad	bronchial
24	chr3:142837600-142840600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr3:142837600-142840600	Active TSS	Primary T cells from cord blood	blood
26	chr3:142837600-142840600	Active TSS	Brain Inferior Temporal Lobe	brain
27	chr3:142837600-142840600	Active TSS	NHLF	lung
28	chr3:142837600-142840600	Active TSS	Osteobl	bone
29	chr3:142837600-142840800	Active TSS	Brain Anterior Caudate	brain
30	chr3:142837600-142840800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
31	chr3:142837600-142841000	Active TSS	HSMM	muscle
32	chr3:142837600-142841200	Active TSS	Brain Angular Gyrus	brain
33	chr3:142837800-142839200	Active TSS	H1 Cell Line	embryonic stem cell
34	chr3:142837800-142839200	Active TSS	HMEC	breast
35	chr3:142837800-142839400	Active TSS	iPS-15b Cell Line	embryonic stem cell
36	chr3:142837800-142839400	Active TSS	Esophagus	oesophagus
37	chr3:142837800-142839400	Active TSS	Gastric	stomach
38	chr3:142837800-142839400	Active TSS	Left Ventricle	heart
39	chr3:142837800-142839400	Active TSS	Lung	lung
40	chr3:142837800-142839400	Bivalent/Poised TSS	A549	lung
41	chr3:142837800-142839600	Active TSS	Duodenum Smooth Muscle	Duodenum
42	chr3:142837800-142839600	Active TSS	Rectal Smooth Muscle	rectum
43	chr3:142837800-142839600	Active TSS	Sigmoid Colon	Sigmoid Colon
44	chr3:142837800-142839800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr3:142837800-142839800	Active TSS	Breast Myoepithelial Primary Cells	Breast
46	chr3:142837800-142839800	Active TSS	NH-A	brain
47	chr3:142837800-142840000	Active TSS	Muscle Satellite Cultured Cells	--
48	chr3:142837800-142840000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr3:142837800-142840000	Bivalent/Poised TSS	Fetal Brain Female	brain
50	chr3:142837800-142840200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood

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