Variant report

Variant	rs2744430
Chromosome Location	chr6:149778202-149778203
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	MAZ	chr6:149777848-149778218	K562	blood:	n/a	chr6:149778039-149778049
2	MYC	chr6:149777820-149778250	K562	blood:	n/a	chr6:149778039-149778049
3	POLR2A	chr6:149777775-149778465	GM12878	blood:	n/a	n/a
4	JUN	chr6:149777675-149778583	K562	blood:	n/a	chr6:149778146-149778155
5	BHLHE40	chr6:149777820-149778360	K562	blood:	n/a	n/a
6	USF1	chr6:149777834-149778249	K562	blood:	n/a	n/a
7	E2F6	chr6:149777779-149778349	K562	blood:	n/a	chr6:149778171-149778182
8	MYC	chr6:149777857-149778220	K562	blood:	n/a	chr6:149778039-149778049
9	MAX	chr6:149777836-149778223	K562	blood:	n/a	chr6:149778039-149778049
10	E2F6	chr6:149777761-149778250	K562	blood:	n/a	chr6:149778171-149778182
11	MAX	chr6:149777756-149778340	K562	blood:	n/a	chr6:149778243-149778252 chr6:149778039-149778049
12	MAX	chr6:149777800-149778301	K562	blood:	n/a	chr6:149778243-149778252 chr6:149778039-149778049
13	CTCF	chr6:149777804-149778256	K562	blood:	n/a	n/a

Variant related genes	Relation type
ZC3H12D	TF binding region

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1001242	0.87[ASN][1000 genomes]
rs1339185	0.81[ASN][1000 genomes]
rs2007062	0.88[ASN][1000 genomes]
rs2179367	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2262617	0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2789496	0.86[ASN][1000 genomes]
rs2789498	0.90[ASN][1000 genomes]
rs2789501	0.82[ASN][1000 genomes]
rs3765290	0.90[ASN][1000 genomes]
rs475681	0.90[ASN][1000 genomes]
rs4895789	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4897124	0.84[ASN][1000 genomes]
rs4897125	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs556775	0.83[ASN][1000 genomes]
rs587155	0.90[ASN][1000 genomes]
rs656461	0.81[ASN][1000 genomes]
rs805027	0.82[ASN][1000 genomes]

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	nsv530444	chr6:149654540-149848997	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv470866	chr6:149744632-149806552	Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv5533	chr6:149748047-149793072	Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv464076	chr6:149755695-149798835	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv604846	chr6:149755695-149798835	ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:149768400-149779400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr6:149769600-149782800	Strong transcription	Primary B cells from peripheral blood	blood
3	chr6:149769600-149787200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr6:149769800-149779800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr6:149770000-149779600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr6:149770000-149785200	Strong transcription	Primary T helper cells fromperipheralblood	blood
7	chr6:149772000-149788800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr6:149772600-149779400	Strong transcription	Primary T helper cells PMA-I stimulated	--
9	chr6:149772600-149787000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr6:149773000-149779600	Weak transcription	Primary T cells from cord blood	blood
11	chr6:149773000-149783400	Strong transcription	Primary B cells from cord blood	blood
12	chr6:149773600-149778400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr6:149775600-149779600	Weak transcription	Primary hematopoietic stem cells	blood
14	chr6:149775800-149780800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr6:149776000-149780600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr6:149776200-149780600	Weak transcription	NH-A	brain
17	chr6:149776200-149785200	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr6:149776200-149789600	Weak transcription	Fetal Thymus	thymus
19	chr6:149776400-149778800	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr6:149776400-149778800	Weak transcription	NHLF	lung
21	chr6:149776400-149779400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr6:149776400-149780600	Weak transcription	Osteobl	bone
23	chr6:149776400-149784400	Weak transcription	Small Intestine	intestine
24	chr6:149776400-149784800	Weak transcription	HepG2	liver
25	chr6:149776400-149785200	Strong transcription	Primary T cells fromperipheralblood	blood
26	chr6:149776400-149785400	Weak transcription	HSMMtube	muscle
27	chr6:149776600-149779400	Weak transcription	Duodenum Mucosa	Duodenum
28	chr6:149776600-149780600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr6:149776600-149781600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr6:149776600-149785200	Weak transcription	Colonic Mucosa	Colon
31	chr6:149776800-149778400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr6:149776800-149778600	Weak transcription	Colon Smooth Muscle	Colon
33	chr6:149776800-149778800	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr6:149776800-149779600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr6:149776800-149780000	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr6:149776800-149782600	Weak transcription	Stomach Mucosa	stomach
37	chr6:149776800-149785200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr6:149776800-149785200	Weak transcription	Rectal Smooth Muscle	rectum
39	chr6:149776800-149785200	Weak transcription	Hela-S3	cervix
40	chr6:149776800-149785400	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr6:149776800-149802000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr6:149777000-149779800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr6:149777000-149780800	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr6:149777600-149778400	Strong transcription	Fetal Intestine Small	intestine
45	chr6:149777600-149778400	ZNF genes & repeats	Spleen	Spleen
46	chr6:149777600-149778800	Enhancers	Left Ventricle	heart
47	chr6:149777600-149779200	Enhancers	Fetal Heart	heart
48	chr6:149777600-149779800	Enhancers	Right Ventricle	heart
49	chr6:149777800-149778400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr6:149777800-149778400	Enhancers	Gastric	stomach

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