Variant report

Variant	rs11844343
Chromosome Location	chr14:105340130-105340131
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:105264148..105266055-chr14:105338238..105340290,2	K562	blood:
2	chr14:105336440..105340478-chr14:105340944..105342699,3	MCF-7	breast:
3	chr14:105337863..105340802-chr14:105451441..105454537,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000140104	Chromatin interaction

Extended variants
information (count: 68 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs12431850	1.00[ASN][1000 genomes]
rs2028416	0.86[ASN][1000 genomes]
rs2028417	0.98[ASN][1000 genomes]
rs2119394	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2304755	0.95[ASN][1000 genomes]
rs2304756	0.95[ASN][1000 genomes]
rs2304757	0.92[ASN][1000 genomes]
rs2304758	0.95[ASN][1000 genomes]
rs2582495	0.95[ASN][1000 genomes]
rs2582561	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs2841217	0.95[ASN][1000 genomes]
rs2841223	0.85[AMR][1000 genomes]
rs2841225	0.82[AMR][1000 genomes]
rs2841227	0.82[AMR][1000 genomes]
rs2841231	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2841232	0.99[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs28427389	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28460540	0.94[ASN][1000 genomes]
rs28480267	0.98[ASN][1000 genomes]
rs28694394	0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2919618	0.82[AMR][1000 genomes]
rs34009344	0.95[ASN][1000 genomes]
rs41310934	0.95[ASN][1000 genomes]
rs41317300	0.95[ASN][1000 genomes]
rs4983388	0.84[ASN][1000 genomes]
rs4983389	0.98[ASN][1000 genomes]
rs4983390	1.00[ASN][1000 genomes]
rs4983560	0.94[ASN][1000 genomes]
rs56118449	1.00[ASN][1000 genomes]
rs61995980	0.98[ASN][1000 genomes]
rs61995985	0.99[ASN][1000 genomes]
rs61995986	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61995988	0.96[ASN][1000 genomes]
rs61995990	0.92[ASN][1000 genomes]
rs61995994	0.98[ASN][1000 genomes]
rs61995995	0.95[ASN][1000 genomes]
rs7150561	0.95[ASN][1000 genomes]
rs72700143	0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530812	chr14:104775571-105364883	Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
2	nsv1053591	chr14:105024558-105475931	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
3	nsv542224	chr14:105024558-105475931	Bivalent Enhancer Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
4	esv2830002	chr14:105078251-105348552	Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
5	nsv902389	chr14:105092479-105366499	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
6	esv1828345	chr14:105100787-105803170	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
7	nsv470677	chr14:105126354-105348552	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
8	nsv542225	chr14:105133688-105803170	Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
9	nsv902405	chr14:105148655-105340643	Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
10	nsv542227	chr14:105157572-105803170	Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	147 gene(s)	inside rSNPs	diseases
11	nsv902412	chr14:105238701-105361934	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
12	esv1836552	chr14:105246686-105348552	Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
13	nsv902413	chr14:105246686-105366499	Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
14	esv1840298	chr14:105274292-105366499	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
15	nsv902416	chr14:105277209-105366499	Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
16	nsv456456	chr14:105285159-105412541	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
17	nsv566099	chr14:105285159-105412541	Bivalent Enhancer Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
18	nsv902417	chr14:105323300-105350355	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
19	nsv902418	chr14:105323300-105361934	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
20	esv1836173	chr14:105329195-105348552	Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
21	esv1833606	chr14:105331150-105348552	Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
22	esv1850310	chr14:105331150-105348552	Genic enhancers Active TSS Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
23	nsv566123	chr14:105331370-105347488	Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
24	nsv566131	chr14:105331476-105340643	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
25	nsv566132	chr14:105331476-105347488	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
26	nsv566134	chr14:105331619-105340643	Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
27	nsv566136	chr14:105331893-105348039	Enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
28	nsv566137	chr14:105332322-105359556	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
29	esv3371533	chr14:105336407-105340905	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
30	nsv917106	chr14:105339195-105803170	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11844343	CEP170B	cis	Whole Blood	GTEx

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105333200-105342400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr14:105333200-105344200	Weak transcription	Aorta	Aorta
3	chr14:105333200-105346600	Weak transcription	Brain Angular Gyrus	brain
4	chr14:105333200-105346800	Weak transcription	Brain Substantia Nigra	brain
5	chr14:105333200-105346800	Weak transcription	A549	lung
6	chr14:105333200-105347200	Weak transcription	Left Ventricle	heart
7	chr14:105333400-105344400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr14:105333400-105344400	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr14:105333400-105344600	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr14:105333400-105344800	Weak transcription	Brain Hippocampus Middle	brain
11	chr14:105333400-105349200	Weak transcription	Small Intestine	intestine
12	chr14:105333600-105346600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr14:105333600-105346600	Weak transcription	Colon Smooth Muscle	Colon
14	chr14:105333800-105343400	Weak transcription	Brain Cingulate Gyrus	brain
15	chr14:105333800-105344400	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr14:105334000-105346800	Weak transcription	Brain Anterior Caudate	brain
17	chr14:105334200-105351600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr14:105334400-105342400	Weak transcription	Hela-S3	cervix
19	chr14:105334400-105342400	Weak transcription	HepG2	liver
20	chr14:105334400-105348600	Weak transcription	Fetal Brain Male	brain
21	chr14:105336000-105342400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr14:105336200-105343600	Weak transcription	Brain Germinal Matrix	brain
23	chr14:105336200-105346600	Weak transcription	Rectal Smooth Muscle	rectum
24	chr14:105336600-105344200	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr14:105336800-105340400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr14:105337000-105342400	Enhancers	Liver	Liver
27	chr14:105337800-105341600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr14:105338000-105340600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
29	chr14:105338000-105342400	Enhancers	HMEC	breast
30	chr14:105338200-105341400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr14:105338200-105342600	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr14:105338400-105340200	Enhancers	H1 Cell Line	embryonic stem cell
33	chr14:105338400-105340400	Enhancers	Fetal Muscle Leg	muscle
34	chr14:105338400-105341400	Enhancers	HSMMtube	muscle
35	chr14:105338400-105343000	Weak transcription	Fetal Brain Female	brain
36	chr14:105338600-105340800	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr14:105338600-105340800	Enhancers	Stomach Mucosa	stomach
38	chr14:105338600-105342400	Enhancers	Esophagus	oesophagus
39	chr14:105338800-105340200	Enhancers	Placenta	Placenta
40	chr14:105338800-105340400	Enhancers	Fetal Stomach	stomach
41	chr14:105338800-105341800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr14:105338800-105344400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr14:105339000-105340200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
44	chr14:105339000-105340200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr14:105339000-105340200	Enhancers	Skeletal Muscle Male	skeletal muscle
46	chr14:105339000-105340800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr14:105339000-105343200	Weak transcription	Colonic Mucosa	Colon
48	chr14:105339000-105343600	Weak transcription	Right Ventricle	heart
49	chr14:105339000-105343800	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr14:105339200-105340200	Enhancers	HUES48 Cell Line	embryonic stem cell

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