Variant report

Variant	rs10146340
Chromosome Location	chr14:103851089-103851090
allele	A/C
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	CTCF	chr14:103851080-103851230	SAEC	small airway:	n/a	n/a
2	GABPA	chr14:103851009-103852225	MCF-7	breast:	n/a	chr14:103852100-103852109
3	GABPA	chr14:103850724-103852320	MCF-7	breast:	n/a	chr14:103852100-103852109
4	CTCF	chr14:103850960-103851110	GM12878	blood:	n/a	n/a
5	HDAC2	chr14:103850895-103852203	MCF-7	breast:	n/a	n/a
6	SIN3A	chr14:103850997-103853175	H1-hESC	embryonic stem cell:	n/a	chr14:103851219-103851230 chr14:103852202-103852215 chr14:103851800-103851811
7	POLR2A	chr14:103850814-103852207	H1-neurons	neurons:	n/a	n/a
8	USF2	chr14:103851068-103851101	GM12878	blood:	n/a	n/a
9	MXI1	chr14:103850656-103853805	SK-N-SH	brain:	n/a	n/a
10	EGR1	chr14:103850944-103852163	HCT-116	colon:	n/a	chr14:103851597-103851610 chr14:103851598-103851608 chr14:103851078-103851091 chr14:103851854-103851863 chr14:103851598-103851607 chr14:103851597-103851610 chr14:103851597-103851610 chr14:103851596-103851610 chr14:103851597-103851610 chr14:103851703-103851712
11	CEBPB	chr14:103850988-103851997	MCF-7	breast:	n/a	n/a
12	RFX5	chr14:103850987-103852803	IMR90	lung:	n/a	chr14:103851627-103851642 chr14:103852700-103852713 chr14:103851628-103851642 chr14:103851630-103851639
13	POLR2A	chr14:103850831-103852743	H1-hESC	embryonic stem cell:	n/a	n/a
14	REST	chr14:103850585-103853046	H1-neurons	neurons:	n/a	chr14:103850840-103850850 chr14:103851177-103851185 chr14:103851774-103851784
15	TAF1	chr14:103850790-103852123	H1-neurons	neurons:	n/a	n/a
16	CHD1	chr14:103850365-103853884	IMR90	lung:	n/a	chr14:103852260-103852267
17	RFX5	chr14:103850774-103853871	SK-N-SH	brain:	n/a	chr14:103851627-103851642 chr14:103852700-103852713 chr14:103851628-103851642 chr14:103851630-103851639
18	ELF1	chr14:103850423-103852133	MCF-7	breast:	n/a	chr14:103851786-103851795 chr14:103851781-103851793 chr14:103851704-103851713 chr14:103851967-103851976 chr14:103851963-103851972
19	TAF1	chr14:103851086-103851994	H1-neurons	neurons:	n/a	n/a
20	MAZ	chr14:103851037-103852639	IMR90	lung:	n/a	n/a
21	POLR2A	chr14:103850793-103852175	H1-neurons	neurons:	n/a	n/a
22	MXI1	chr14:103851029-103853831	IMR90	lung:	n/a	n/a
23	NR2F2	chr14:103850452-103852085	MCF-7	breast:	n/a	n/a
24	MAX	chr14:103850438-103852917	MCF-7	breast:	n/a	n/a
25	POLR2A	chr14:103850451-103853306	SK-N-MC	brain:	n/a	n/a
26	POLR2A	chr14:103851076-103852079	U87	brain:	n/a	n/a
27	SIN3AK20	chr14:103851002-103851751	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:103840813..103842948-chr14:103850567..103853142,2	MCF-7	breast:
2	chr14:103804940..103815889-chr14:103850459..103863829,28	K562	blood:
3	chr14:103794753..103806137-chr14:103849038..103864103,36	MCF-7	breast:
4	chr14:103806698..103810659-chr14:103850742..103855221,6	MCF-7	breast:
5	chr14:103799041..103818802-chr14:103836567..103862153,82	K562	blood:
6	chr14:103827117..103828725-chr14:103849989..103851539,2	K562	blood:
7	chr14:103797262..103804754-chr14:103849003..103864058,49	MCF-7	breast:
8	chr14:103798959..103802101-chr14:103850214..103852987,6	K562	blood:

Variant related genes	Relation type
MARK3	TF binding region
ENSG00000259775	Chromatin interaction
ENSG00000100664	Chromatin interaction
ENSG00000243904	Chromatin interaction
ENSG00000272533	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10137098	0.92[AFR][1000 genomes]
rs10149270	1.00[AMR][1000 genomes]
rs10151139	1.00[AMR][1000 genomes]
rs11621406	0.90[AMR][1000 genomes]
rs11625988	1.00[AMR][1000 genomes]
rs12887238	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1951393	1.00[AMR][1000 genomes]
rs2065014	1.00[AMR][1000 genomes]
rs2065020	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2180992	1.00[AMR][1000 genomes]
rs2403175	1.00[AMR][1000 genomes]
rs34721082	1.00[AMR][1000 genomes]
rs4900576	1.00[AMR][1000 genomes]
rs4906326	1.00[AMR][1000 genomes]
rs6575987	1.00[AMR][1000 genomes]
rs6575989	1.00[AMR][1000 genomes]
rs6575990	1.00[AMR][1000 genomes]
rs7149291	1.00[AMR][1000 genomes]
rs7152150	1.00[AMR][1000 genomes]
rs8003497	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042714	chr14:103085298-103860730	Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
2	nsv1049747	chr14:103126148-103955984	Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	113 gene(s)	inside rSNPs	diseases
3	nsv534254	chr14:103470073-104023906	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
4	nsv9168	chr14:103531729-103913306	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
5	esv3332028	chr14:103581471-104328811	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
6	nsv542200	chr14:103838939-103868007	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:103850400-103851400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr14:103850400-103851400	Flanking Active TSS	Dnd41	blood
3	chr14:103850600-103851200	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr14:103850600-103851200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr14:103850600-103851200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr14:103850600-103851200	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
7	chr14:103850600-103851200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr14:103850600-103851200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr14:103850600-103851200	Flanking Active TSS	Brain Angular Gyrus	brain
10	chr14:103850600-103851200	Flanking Active TSS	Brain Germinal Matrix	brain
11	chr14:103850600-103851200	Flanking Active TSS	Brain Hippocampus Middle	brain
12	chr14:103850600-103851200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
13	chr14:103850600-103851200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
14	chr14:103850600-103851200	Flanking Active TSS	HepG2	liver
15	chr14:103850600-103851200	Flanking Active TSS	NHDF-Ad	bronchial
16	chr14:103850600-103851200	Flanking Active TSS	NHLF	lung
17	chr14:103850600-103851400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
18	chr14:103850600-103851400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
19	chr14:103850600-103851400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr14:103850600-103851400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr14:103850600-103851400	Flanking Active TSS	Duodenum Mucosa	Duodenum
22	chr14:103850600-103851400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
23	chr14:103850600-103851400	Flanking Active TSS	Stomach Smooth Muscle	stomach
24	chr14:103850600-103851400	Flanking Active TSS	GM12878-XiMat	blood
25	chr14:103850600-103851400	Flanking Active TSS	HMEC	breast
26	chr14:103850600-103851400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
27	chr14:103850600-103851600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
28	chr14:103850600-103851600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr14:103850800-103851200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr14:103850800-103851200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
31	chr14:103850800-103851200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
32	chr14:103850800-103851200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr14:103850800-103851200	Flanking Active TSS	Brain Substantia Nigra	brain
34	chr14:103850800-103851200	Flanking Active TSS	Colon Smooth Muscle	Colon
35	chr14:103850800-103851200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
36	chr14:103850800-103851200	Flanking Active TSS	Fetal Brain Male	brain
37	chr14:103850800-103851200	Flanking Active TSS	Fetal Heart	heart
38	chr14:103850800-103851200	Flanking Active TSS	Gastric	stomach
39	chr14:103850800-103851200	Enhancers	Lung	lung
40	chr14:103850800-103851200	Flanking Active TSS	Right Ventricle	heart
41	chr14:103850800-103851200	Enhancers	Sigmoid Colon	Sigmoid Colon
42	chr14:103850800-103851200	Flanking Active TSS	Thymus	Thymus
43	chr14:103850800-103851200	Flanking Active TSS	A549	lung
44	chr14:103850800-103851200	Flanking Active TSS	HSMMtube	muscle
45	chr14:103850800-103851400	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr14:103850800-103851400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr14:103850800-103851400	Flanking Active TSS	Primary T cells from cord blood	blood
48	chr14:103850800-103851400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
49	chr14:103850800-103851400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
50	chr14:103850800-103851400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--

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