Variant report

Variant	rs529317966
Chromosome Location	chr3:142839632-142839633
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	MAX	chr3:142839617-142840158	K562	blood:	n/a	n/a
3	POLR2A	chr3:142837773-142841232	GM19193	blood:	n/a	n/a
4	POLR2A	chr3:142837235-142842973	GM12878	blood:	n/a	n/a
5	POLR2A	chr3:142839609-142840422	GM12892	blood:	n/a	n/a
6	POLR2A	chr3:142837371-142841744	GM12892	blood:	n/a	n/a
7	POLR2A	chr3:142837327-142842927	GM12891	blood:	n/a	n/a
8	POLR2A	chr3:142836914-142843085	GM12891	blood:	n/a	n/a
9	POLR2A	chr3:142837796-142841213	GM12878	blood:	n/a	n/a
10	PML	chr3:142837665-142840120	GM12878	blood:	n/a	n/a
11	POLR2A	chr3:142837397-142840013	GM12892	blood:	n/a	n/a
12	POLR2A	chr3:142839436-142839747	HUVEC	blood vessel:	n/a	n/a
13	POLR2A	chr3:142837372-142842950	GM12891	blood:	n/a	n/a
14	POLR2A	chr3:142837824-142840822	GM12878	blood:	n/a	n/a
15	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
16	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
17	POLR2A	chr3:142837371-142840452	GM12892	blood:	n/a	n/a
18	MAX	chr3:142839135-142840430	K562	blood:	n/a	n/a
19	HMGN3	chr3:142837835-142840246	K562	blood:	n/a	n/a
20	POLR2A	chr3:142839555-142839938	GM12891	blood:	n/a	n/a
21	YY1	chr3:142839038-142840483	GM12892	blood:	n/a	chr3:142839630-142839639 chr3:142839364-142839378 chr3:142839628-142839642
22	BCLAF1	chr3:142839612-142840135	GM12878	blood:	n/a	chr3:142839630-142839643 chr3:142839627-142839636 chr3:142839624-142839633
23	RUNX3	chr3:142837697-142840604	GM12878	blood:	n/a	n/a
24	PAX5	chr3:142838058-142840101	GM12892	blood:	n/a	n/a
25	UBTF	chr3:142837118-142840212	K562	blood:	n/a	n/a
26	MAX	chr3:142839539-142840864	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr3:142837700-142841323	K562	blood:	n/a	n/a
28	E2F6	chr3:142839578-142840716	H1-hESC	embryonic stem cell:	n/a	chr3:142839630-142839639
29	TAF1	chr3:142839579-142840050	H1-hESC	embryonic stem cell:	n/a	n/a
30	SMC3	chr3:142839585-142840631	SK-N-SH	brain:	n/a	n/a
31	MAX	chr3:142839625-142839855	K562	blood:	n/a	n/a
32	ZNF143	chr3:142838980-142840529	GM12878	blood:	n/a	chr3:142839542-142839552
33	E2F6	chr3:142839543-142840241	K562	blood:	n/a	chr3:142839574-142839584 chr3:142839630-142839639 chr3:142839543-142839552
34	POLR2A	chr3:142837654-142842994	GM12892	blood:	n/a	n/a
35	POLR2A	chr3:142837616-142840005	H1-hESC	embryonic stem cell:	n/a	n/a
36	POLR2A	chr3:142837455-142842924	GM18505	blood:	n/a	n/a
37	POLR2A	chr3:142839509-142839764	HUVEC	blood vessel:	n/a	n/a
38	CTCF	chr3:142839630-142840719	A549	lung:	n/a	n/a
39	POLR2A	chr3:142837752-142841154	GM15510	blood:	n/a	n/a
40	CCNT2	chr3:142837807-142840892	K562	blood:	n/a	chr3:142837856-142837865
41	ZBTB7A	chr3:142837791-142839816	K562	blood:	n/a	n/a
42	MAX	chr3:142839563-142840768	H1-hESC	embryonic stem cell:	n/a	n/a
43	GABPA	chr3:142838988-142839737	H1-hESC	embryonic stem cell:	n/a	chr3:142839543-142839552
44	STAT1	chr3:142839631-142840453	GM12878	blood:	n/a	n/a
45	POLR2A	chr3:142837766-142840680	PBDE	blood:	n/a	n/a
46	ELF1	chr3:142837789-142841246	GM12878	blood:	n/a	chr3:142838916-142838925 chr3:142839154-142839166 chr3:142838915-142838927 chr3:142838693-142838702 chr3:142838694-142838706 chr3:142839633-142839642 chr3:142838696-142838705 chr3:142838918-142838930
47	RAD21	chr3:142839471-142840638	H1-hESC	embryonic stem cell:	n/a	n/a
48	MAZ	chr3:142837494-142840228	K562	blood:	n/a	n/a
49	POU2F2	chr3:142839599-142840635	GM12878	blood:	n/a	n/a
50	GABPA	chr3:142839534-142840048	K562	blood:	n/a	chr3:142839543-142839552

No.	Distal block	Cell Line	Cell type
1	chr3:142839497..142841574-chr3:143081300..143083347,2	K562	blood:
2	chr3:142777135..142778996-chr3:142838578..142841035,2	K562	blood:
3	chr3:142795942..142798929-chr3:142838470..142841083,3	K562	blood:
4	chr3:142839097..142841882-chr3:143060810..143062990,2	K562	blood:
5	chr3:142760861..142763721-chr3:142838517..142840129,2	K562	blood:
6	chr3:142546469..142548561-chr3:142838535..142840408,2	K562	blood:
7	chr3:142719801..142721977-chr3:142838395..142840175,2	K562	blood:
8	chr3:142772025..142774338-chr3:142838383..142839930,2	K562	blood:
9	chr3:142729466..142732055-chr3:142838748..142841571,2	K562	blood:
10	chr3:142755305..142760138-chr3:142835756..142840820,6	K562	blood:
11	chr3:142839303..142841374-chr3:143036089..143037614,2	K562	blood:
12	chr3:142838518..142840970-chr3:143064617..143066302,2	K562	blood:

Variant related genes	Relation type
ENSG00000241679	TF binding region
ENSG00000240950	Chromatin interaction
ENSG00000268129	Chromatin interaction
ENSG00000163714	Chromatin interaction
ENSG00000240012	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 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
8	esv3421903	chr3:142839312-142842010	Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription	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	chr3:142837000-142840400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
2	chr3:142837200-142840600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
3	chr3:142837400-142839800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
4	chr3:142837400-142840200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr3:142837400-142840400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr3:142837400-142840400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr3:142837400-142840600	Active TSS	H9 Cell Line	embryonic stem cell
8	chr3:142837600-142839800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr3:142837600-142840200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr3:142837600-142840200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr3:142837600-142840200	Active TSS	Right Atrium	heart
12	chr3:142837600-142840200	Active TSS	K562	blood
13	chr3:142837600-142840400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr3:142837600-142840400	Active TSS	Primary T killer memory cells from peripheral blood	blood
15	chr3:142837600-142840400	Active TSS	Brain Hippocampus Middle	brain
16	chr3:142837600-142840400	Active TSS	Brain Substantia Nigra	brain
17	chr3:142837600-142840400	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr3:142837600-142840400	Active TSS	HSMMtube	muscle
19	chr3:142837600-142840400	Active TSS	NHDF-Ad	bronchial
20	chr3:142837600-142840600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr3:142837600-142840600	Active TSS	Primary T cells from cord blood	blood
22	chr3:142837600-142840600	Active TSS	Brain Inferior Temporal Lobe	brain
23	chr3:142837600-142840600	Active TSS	NHLF	lung
24	chr3:142837600-142840600	Active TSS	Osteobl	bone
25	chr3:142837600-142840800	Active TSS	Brain Anterior Caudate	brain
26	chr3:142837600-142840800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
27	chr3:142837600-142841000	Active TSS	HSMM	muscle
28	chr3:142837600-142841200	Active TSS	Brain Angular Gyrus	brain
29	chr3:142837800-142839800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr3:142837800-142839800	Active TSS	Breast Myoepithelial Primary Cells	Breast
31	chr3:142837800-142839800	Active TSS	NH-A	brain
32	chr3:142837800-142840000	Active TSS	Muscle Satellite Cultured Cells	--
33	chr3:142837800-142840000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr3:142837800-142840000	Bivalent/Poised TSS	Fetal Brain Female	brain
35	chr3:142837800-142840200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
36	chr3:142837800-142840200	Active TSS	Ovary	ovary
37	chr3:142837800-142840200	Active TSS	Small Intestine	intestine
38	chr3:142837800-142840200	Active TSS	Spleen	Spleen
39	chr3:142837800-142840400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr3:142837800-142840400	Active TSS	Primary T helper naive cells from peripheral blood	blood
41	chr3:142837800-142840400	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
42	chr3:142837800-142840600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr3:142837800-142840600	Active TSS	Brain Cingulate Gyrus	brain
44	chr3:142837800-142843400	Active TSS	Fetal Kidney	kidney
45	chr3:142838000-142839800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr3:142838000-142840000	Active TSS	Primary monocytes fromperipheralblood	blood
47	chr3:142838000-142840000	Active TSS	Primary B cells from peripheral blood	blood
48	chr3:142838000-142840000	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
49	chr3:142838000-142840000	Active TSS	Primary T regulatory cells fromperipheralblood	blood
50	chr3:142838000-142840000	Active TSS	Aorta	Aorta

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links