Variant report

Variant	rs4906319
Chromosome Location	chr14:103867320-103867321
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr14:103867259-103868703	IMR90	lung:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:103798722..103803234-chr14:103866449..103871829,6	MCF-7	breast:
2	chr14:103858689..103864179-chr14:103864270..103870415,8	K562	blood:
3	chr1:11969845..11972544-chr14:103864785..103867784,2	MCF-7	breast:
4	chr14:103861640..103863253-chr14:103866486..103868764,3	MCF-7	breast:
5	chr14:103866682..103869641-chr14:103890743..103893905,3	MCF-7	breast:
6	chr14:103865764..103868576-chr14:103891943..103893901,2	K562	blood:
7	chr14:103860462..103863338-chr14:103864074..103867631,4	K562	blood:
8	chr14:103850341..103851952-chr14:103865752..103867363,2	MCF-7	breast:

No data

Variant related genes	Relation type
MARK3	TF binding region
ENSG00000201801	Chromatin interaction
ENSG00000100664	Chromatin interaction
ENSG00000075413	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10144051	0.94[CEU][hapmap];0.87[CHD][hapmap];0.98[GIH][hapmap];0.87[JPT][hapmap];0.94[MEX][hapmap];0.97[TSI][hapmap]
rs10148970	0.94[CEU][hapmap];0.87[CHD][hapmap];0.98[GIH][hapmap];0.87[JPT][hapmap];0.94[MEX][hapmap];0.97[TSI][hapmap]
rs10149470	0.88[JPT][hapmap]
rs10162425	1.00[CEU][hapmap];0.86[JPT][hapmap]
rs1107070	0.83[ASW][hapmap];0.94[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap]
rs1116095	0.94[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap]
rs11621300	0.83[CEU][hapmap]
rs12432803	0.94[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap]
rs12435516	0.94[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap]
rs12436729	0.94[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap]
rs12879085	0.82[YRI][hapmap]
rs12898029	0.83[YRI][hapmap]
rs17841064	0.83[ASW][hapmap];0.94[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap]
rs2071407	0.80[GIH][hapmap];0.82[JPT][hapmap]
rs2756132	0.94[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs2756135	0.94[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap]
rs2765051	0.89[CHB][hapmap];0.95[JPT][hapmap]
rs3759577	0.83[CEU][hapmap];0.91[CHB][hapmap];0.93[CHD][hapmap];0.91[JPT][hapmap];0.83[TSI][hapmap]
rs4143998	0.89[CEU][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];0.87[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs4906320	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs4906329	0.94[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap]
rs6575982	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6575983	0.86[YRI][hapmap]
rs6575988	0.94[CEU][hapmap];0.85[CHD][hapmap];0.98[GIH][hapmap];0.87[JPT][hapmap];0.94[MEX][hapmap];0.97[TSI][hapmap]
rs7140647	0.85[YRI][hapmap]
rs7147664	1.00[CEU][hapmap];0.86[JPT][hapmap]
rs7148567	0.94[CEU][hapmap];0.87[JPT][hapmap]
rs7149767	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs8010247	0.83[ASW][hapmap];0.94[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.87[MEX][hapmap];0.99[MKK][hapmap];0.97[TSI][hapmap];0.89[YRI][hapmap]
rs8014013	0.94[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs8016326	0.83[CEU][hapmap]
rs8018400	0.94[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap]
rs8020912	0.83[CEU][hapmap];0.82[GIH][hapmap];0.86[TSI][hapmap]
rs8022179	0.83[CEU][hapmap]
rs911552	0.95[JPT][hapmap]
rs911554	0.95[JPT][hapmap]
rs911555	0.95[JPT][hapmap]
rs9671414	0.94[CEU][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];0.87[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs975892	0.83[ASW][hapmap];0.94[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap]

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	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
2	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
3	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
4	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
5	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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4906319	KLC1	cis	parietal	SCAN
rs4906319	BAG5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:103853800-103867400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr14:103855000-103868000	Weak transcription	Fetal Stomach	stomach
3	chr14:103855000-103874800	Weak transcription	Fetal Brain Male	brain
4	chr14:103855200-103871800	Weak transcription	Brain Germinal Matrix	brain
5	chr14:103856600-103871200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr14:103856600-103871600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr14:103857000-103871000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
8	chr14:103858800-103871400	Weak transcription	Fetal Brain Female	brain
9	chr14:103860400-103871400	Weak transcription	Fetal Muscle Trunk	muscle
10	chr14:103860800-103867600	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr14:103860800-103871400	Weak transcription	Fetal Intestine Large	intestine
12	chr14:103861000-103867800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr14:103861000-103867800	Weak transcription	Esophagus	oesophagus
14	chr14:103861000-103867800	Weak transcription	Fetal Muscle Leg	muscle
15	chr14:103861000-103874800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr14:103861000-103882400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr14:103862000-103867600	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr14:103862000-103919400	Weak transcription	Colonic Mucosa	Colon
19	chr14:103862400-103867400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr14:103862400-103870200	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr14:103862600-103867600	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr14:103862600-103867600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr14:103863200-103867600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr14:103863200-103867800	Weak transcription	Aorta	Aorta
25	chr14:103863200-103867800	Weak transcription	Placenta	Placenta
26	chr14:103863200-103870600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr14:103863800-103871600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr14:103864200-103867800	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr14:103864200-103867800	Enhancers	HMEC	breast
30	chr14:103864200-103868600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr14:103864200-103871200	Enhancers	Monocytes-CD14+_RO01746	blood
32	chr14:103864200-103871400	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr14:103864400-103867800	Enhancers	Primary T cells from cord blood	blood
34	chr14:103864400-103869200	Enhancers	Psoas Muscle	Psoas
35	chr14:103864400-103870800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr14:103864600-103867600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr14:103864600-103867600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr14:103864600-103867600	Weak transcription	Fetal Kidney	kidney
39	chr14:103864800-103867600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr14:103864800-103867600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr14:103864800-103867800	Weak transcription	HepG2	liver
42	chr14:103865000-103867600	Weak transcription	Fetal Heart	heart
43	chr14:103865000-103871400	Weak transcription	Fetal Intestine Small	intestine
44	chr14:103865000-103872200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr14:103865200-103867600	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr14:103865200-103867600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr14:103865400-103867400	Weak transcription	HSMM	muscle
48	chr14:103865400-103867600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
49	chr14:103865400-103867600	Weak transcription	Rectal Smooth Muscle	rectum
50	chr14:103865400-103867600	Weak transcription	HSMMtube	muscle

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