Variant report

Variant	rs7141447
Chromosome Location	chr14:78345147-78345148
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:78337502..78339743-chr14:78343006..78345353,2	K562	blood:
2	chr14:78344966..78346676-chr14:78382145..78384614,2	K562	blood:
3	chr14:78338268..78340963-chr14:78343335..78345587,2	MCF-7	breast:

Extended variants
information (count: 30 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs17106214	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4127756	1.00[MEX][hapmap]
rs58016276	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58590201	1.00[AMR][1000 genomes]
rs58620350	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59215192	1.00[AMR][1000 genomes]
rs59532454	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60806343	1.00[EUR][1000 genomes]
rs73307387	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73307598	1.00[EUR][1000 genomes]
rs73309307	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73309309	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73309329	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73313116	0.90[AFR][1000 genomes]
rs73313131	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73313136	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73313147	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73313149	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73319430	1.00[AMR][1000 genomes]
rs73319431	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73319432	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73319433	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73319436	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73319438	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73319440	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8003070	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8014573	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8020702	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8022673	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043788	chr14:78178490-78381190	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7141447	BTBD16	trans	lymphoblastoid	seeQTL

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:78297800-78353600	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr14:78306000-78356400	Weak transcription	Thymus	Thymus
3	chr14:78314200-78348400	Weak transcription	Colon Smooth Muscle	Colon
4	chr14:78321800-78348400	Weak transcription	Placenta	Placenta
5	chr14:78322200-78353400	Weak transcription	Duodenum Mucosa	Duodenum
6	chr14:78324000-78353600	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr14:78324200-78354800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr14:78326600-78352800	Weak transcription	Esophagus	oesophagus
9	chr14:78327200-78348600	Weak transcription	Fetal Muscle Trunk	muscle
10	chr14:78327800-78400600	Weak transcription	Colonic Mucosa	Colon
11	chr14:78328000-78353400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr14:78329000-78345800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr14:78329000-78347600	Weak transcription	Brain Anterior Caudate	brain
14	chr14:78329000-78348400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr14:78329200-78345400	Weak transcription	Right Ventricle	heart
16	chr14:78329400-78345200	Weak transcription	Brain Hippocampus Middle	brain
17	chr14:78333400-78348600	Weak transcription	Rectal Smooth Muscle	rectum
18	chr14:78334600-78353400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr14:78335800-78348400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr14:78335800-78358600	Weak transcription	HSMMtube	muscle
21	chr14:78336400-78354200	Weak transcription	Fetal Intestine Large	intestine
22	chr14:78337200-78345400	Weak transcription	Left Ventricle	heart
23	chr14:78339000-78345400	Weak transcription	K562	blood
24	chr14:78339600-78353800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr14:78340000-78353400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr14:78340400-78353600	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr14:78340600-78348200	Weak transcription	Fetal Muscle Leg	muscle
28	chr14:78340600-78353400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr14:78340600-78353400	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr14:78340600-78353600	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr14:78340600-78353600	Weak transcription	Dnd41	blood
32	chr14:78340800-78354200	Weak transcription	Primary B cells from cord blood	blood
33	chr14:78341000-78349800	Weak transcription	Primary B cells from peripheral blood	blood
34	chr14:78342200-78346400	Strong transcription	Primary T cells from cord blood	blood
35	chr14:78342200-78353400	Weak transcription	Aorta	Aorta
36	chr14:78342200-78353400	Weak transcription	Fetal Intestine Small	intestine
37	chr14:78342400-78345600	Weak transcription	Fetal Heart	heart
38	chr14:78342600-78346400	Weak transcription	Ovary	ovary
39	chr14:78342600-78348200	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr14:78342600-78352600	Weak transcription	Spleen	Spleen
41	chr14:78342800-78345400	Weak transcription	Adipose Nuclei	Adipose
42	chr14:78342800-78346000	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr14:78342800-78348200	Weak transcription	Stomach Smooth Muscle	stomach
44	chr14:78342800-78353600	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr14:78343000-78346400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr14:78344400-78345600	Enhancers	Stomach Mucosa	stomach
47	chr14:78344800-78346400	Genic enhancers	Gastric	stomach
48	chr14:78344800-78347400	Enhancers	Pancreas	Pancrea
49	chr14:78345000-78345800	Enhancers	Brain Angular Gyrus	brain
50	chr14:78345000-78345800	Enhancers	Brain Inferior Temporal Lobe	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links