Variant report

Variant	rs66978412
Chromosome Location	chr4:6964540-6964541
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:6964388..6966131-chr4:6985503..6987290,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs55740475	0.81[AFR][1000 genomes]
rs55833486	0.84[AFR][1000 genomes]
rs56031152	0.91[AFR][1000 genomes]
rs56094305	0.81[AFR][1000 genomes]
rs56320732	0.91[AFR][1000 genomes]
rs59683609	1.00[AFR][1000 genomes]
rs60048916	0.81[AFR][1000 genomes]
rs66645969	0.82[AFR][1000 genomes]
rs66712119	1.00[AFR][1000 genomes]
rs66808450	0.80[AFR][1000 genomes]
rs67252699	0.80[AFR][1000 genomes]
rs67315413	0.81[AFR][1000 genomes]
rs67405518	1.00[AFR][1000 genomes]
rs67702333	0.83[AFR][1000 genomes]
rs67922134	0.82[AFR][1000 genomes]
rs67998004	0.81[AFR][1000 genomes]
rs68111914	0.82[AFR][1000 genomes]
rs6812771	1.00[AFR][1000 genomes]
rs6851488	0.82[AFR][1000 genomes]
rs73088528	0.90[AFR][1000 genomes]
rs73088564	0.82[AFR][1000 genomes]
rs73199995	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv878529	chr4:6883012-6983677	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv878530	chr4:6888932-7058473	Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:6928000-6969600	Weak transcription	Aorta	Aorta
2	chr4:6945000-6970200	Weak transcription	Hela-S3	cervix
3	chr4:6945800-6965800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr4:6946600-6969000	Weak transcription	Dnd41	blood
5	chr4:6954400-6965800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr4:6955800-6976000	Weak transcription	Rectal Smooth Muscle	rectum
7	chr4:6956000-6964600	Weak transcription	Right Atrium	heart
8	chr4:6956000-6967000	Weak transcription	Psoas Muscle	Psoas
9	chr4:6956000-6976000	Weak transcription	Colon Smooth Muscle	Colon
10	chr4:6956200-6964600	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr4:6956200-6964600	Weak transcription	NHLF	lung
12	chr4:6956200-6965000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr4:6956400-6969200	Weak transcription	K562	blood
14	chr4:6957600-6970400	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr4:6957600-6973800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr4:6957600-6976000	Weak transcription	Fetal Lung	lung
17	chr4:6957800-6976000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr4:6958400-6975800	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr4:6958800-6967400	Weak transcription	Thymus	Thymus
20	chr4:6958800-6969400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr4:6959000-6964600	Weak transcription	A549	lung
22	chr4:6959200-6968800	Weak transcription	Primary T cells from cord blood	blood
23	chr4:6959400-6964600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr4:6959400-6967200	Weak transcription	Ovary	ovary
25	chr4:6961400-6965200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr4:6961600-6964600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr4:6962000-6964600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr4:6962000-6965400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr4:6962200-6965400	Enhancers	H1 Cell Line	embryonic stem cell
30	chr4:6962200-6965400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr4:6962200-6965400	Enhancers	Pancreas	Pancrea
32	chr4:6962200-6965600	Enhancers	Gastric	stomach
33	chr4:6962200-6969600	Weak transcription	Fetal Brain Female	brain
34	chr4:6962400-6966200	Enhancers	Fetal Muscle Trunk	muscle
35	chr4:6962400-6967800	Enhancers	Fetal Muscle Leg	muscle
36	chr4:6962400-6968800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr4:6962600-6964800	Strong transcription	Fetal Stomach	stomach
38	chr4:6962600-6965400	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr4:6962600-6965400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr4:6962600-6968200	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr4:6962600-6968400	Enhancers	Liver	Liver
42	chr4:6962800-6964600	Weak transcription	Left Ventricle	heart
43	chr4:6963000-6965200	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr4:6963000-6966600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
45	chr4:6963000-6967400	Genic enhancers	Fetal Intestine Small	intestine
46	chr4:6963000-6968600	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr4:6963200-6965400	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr4:6963200-6965400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr4:6963200-6965600	Enhancers	Primary B cells from cord blood	blood
50	chr4:6963200-6965800	Enhancers	Primary B cells from peripheral blood	blood

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