Variant report

Variant	rs4899218
Chromosome Location	chr14:68148816-68148817
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:68044795..68046868-chr14:68146625..68149347,2	K562	blood:
2	chr14:68141666..68146397-chr14:68146586..68151737,7	K562	blood:
3	chr14:68145632..68149013-chr14:68158288..68160093,3	K562	blood:
4	chr14:68147331..68150030-chr14:68153544..68156182,3	K562	blood:
5	chr14:67826402..67828235-chr14:68147620..68149671,2	K562	blood:
6	chr14:68147451..68151816-chr14:68155082..68158211,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-VTI1B-1	chr14:68148473-68151133	NONHSAT037464

No data

Variant related genes	Relation type
ENSG00000072042	Chromatin interaction
ENSG00000258466	Chromatin interaction
ENSG00000134001	Chromatin interaction
ENSG00000100554	Chromatin interaction
ENSG00000054690	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10131022	1.00[EUR][1000 genomes]
rs10133699	1.00[EUR][1000 genomes]
rs10134763	1.00[EUR][1000 genomes]
rs10135963	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10136738	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10139064	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10139482	1.00[EUR][1000 genomes]
rs10142186	1.00[EUR][1000 genomes]
rs10145923	1.00[EUR][1000 genomes]
rs10145933	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10146242	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10147052	1.00[EUR][1000 genomes]
rs10147145	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10150532	1.00[EUR][1000 genomes]
rs17104527	1.00[EUR][1000 genomes]
rs17104547	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17104587	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17104591	1.00[EUR][1000 genomes]
rs17104697	1.00[EUR][1000 genomes]
rs2234506	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2234512	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2295109	1.00[EUR][1000 genomes]
rs2295110	1.00[EUR][1000 genomes]
rs28451245	1.00[EUR][1000 genomes]
rs28556682	1.00[EUR][1000 genomes]
rs28780734	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28784083	1.00[EUR][1000 genomes]
rs28817410	1.00[EUR][1000 genomes]
rs28844401	1.00[EUR][1000 genomes]
rs34057001	1.00[EUR][1000 genomes]
rs35010674	1.00[EUR][1000 genomes]
rs4272963	1.00[EUR][1000 genomes]
rs4899220	0.85[AFR][1000 genomes]
rs4902492	1.00[EUR][1000 genomes]
rs4902510	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4902516	1.00[EUR][1000 genomes]
rs4902522	1.00[EUR][1000 genomes]
rs57023353	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs57348219	1.00[EUR][1000 genomes]
rs58112975	1.00[EUR][1000 genomes]
rs58952057	1.00[EUR][1000 genomes]
rs59945885	1.00[EUR][1000 genomes]
rs7143223	1.00[EUR][1000 genomes]
rs7143483	1.00[EUR][1000 genomes]
rs7144698	1.00[EUR][1000 genomes]
rs7145385	1.00[EUR][1000 genomes]
rs7149669	1.00[EUR][1000 genomes]
rs7156195	1.00[EUR][1000 genomes]
rs7157699	1.00[EUR][1000 genomes]
rs7359109	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7765	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8007916	1.00[EUR][1000 genomes]
rs8009762	1.00[EUR][1000 genomes]
rs8010136	1.00[EUR][1000 genomes]
rs8015609	1.00[EUR][1000 genomes]
rs8018161	1.00[EUR][1000 genomes]
rs8018528	1.00[EUR][1000 genomes]
rs8023116	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv902068	chr14:68083133-68204876	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription 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	36 gene(s)	inside rSNPs	diseases
2	nsv1042536	chr14:68136913-68343198	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv542122	chr14:68136913-68343198	Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv521832	chr14:68141009-68204876	Transcr. at gene 5' and 3' Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68142000-68157000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr14:68142200-68149600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr14:68142200-68149800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr14:68142200-68155200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr14:68142200-68155400	Weak transcription	Colonic Mucosa	Colon
6	chr14:68142400-68150200	Weak transcription	Fetal Heart	heart
7	chr14:68142400-68151000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr14:68142400-68151600	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr14:68142400-68151800	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr14:68142400-68151800	Weak transcription	Right Ventricle	heart
11	chr14:68142400-68152000	Weak transcription	Psoas Muscle	Psoas
12	chr14:68142400-68155000	Weak transcription	Rectal Smooth Muscle	rectum
13	chr14:68142400-68155400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr14:68142400-68160600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr14:68142400-68160800	Weak transcription	Right Atrium	heart
16	chr14:68142600-68150200	Weak transcription	Brain Anterior Caudate	brain
17	chr14:68142600-68150200	Weak transcription	Colon Smooth Muscle	Colon
18	chr14:68142600-68151000	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr14:68142600-68151600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr14:68142600-68151800	Weak transcription	Pancreas	Pancrea
21	chr14:68142600-68153000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr14:68143000-68159600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr14:68143000-68160200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
24	chr14:68143200-68160600	Strong transcription	HUES64 Cell Line	embryonic stem cell
25	chr14:68143400-68150400	Strong transcription	Fetal Brain Female	brain
26	chr14:68143400-68159600	Strong transcription	Dnd41	blood
27	chr14:68143400-68160800	Strong transcription	HUES48 Cell Line	embryonic stem cell
28	chr14:68143600-68159600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr14:68143800-68159400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr14:68143800-68159800	Strong transcription	H1 Cell Line	embryonic stem cell
31	chr14:68143800-68160000	Strong transcription	Fetal Thymus	thymus
32	chr14:68143800-68160200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
33	chr14:68144200-68150400	Strong transcription	Cortex derived primary cultured neurospheres	brain
34	chr14:68144200-68158400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
35	chr14:68144200-68159400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr14:68144200-68159600	Strong transcription	HepG2	liver
37	chr14:68144200-68159800	Strong transcription	Fetal Muscle Trunk	muscle
38	chr14:68144200-68160000	Strong transcription	H9 Cell Line	embryonic stem cell
39	chr14:68144200-68160000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr14:68144200-68160000	Strong transcription	Primary T cells from cord blood	blood
41	chr14:68144200-68160200	Strong transcription	Primary T cells fromperipheralblood	blood
42	chr14:68144200-68160400	Strong transcription	Fetal Muscle Leg	muscle
43	chr14:68144200-68160800	Strong transcription	HUES6 Cell Line	embryonic stem cell
44	chr14:68144600-68160600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr14:68144800-68159800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr14:68144800-68159800	Strong transcription	Liver	Liver
47	chr14:68145200-68149600	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr14:68145200-68150200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr14:68145200-68151400	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr14:68145200-68151800	Weak transcription	Esophagus	oesophagus

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