Variant report

Variant	rs10142310
Chromosome Location	chr14:24632856-24632857
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:13 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:24629795-24635666	GM12891	blood:	n/a	n/a
2	POLR2A	chr14:24631788-24632882	GM12891	blood:	n/a	n/a
3	POLR2A	chr14:24628953-24638117	GM12892	blood:	n/a	n/a
4	POLR2A	chr14:24632788-24633057	HepG2	liver:	n/a	n/a
5	POLR2A	chr14:24632010-24632923	GM12878	blood:	n/a	n/a
6	POLR2A	chr14:24631996-24632859	GM12892	blood:	n/a	n/a
7	POLR2A	chr14:24631992-24633009	GM12878	blood:	n/a	n/a
8	POLR2A	chr14:24630016-24632943	GM12878	blood:	n/a	n/a
9	POLR2A	chr14:24629025-24642975	GM12878	blood:	n/a	n/a
10	POLR2A	chr14:24629878-24635641	GM12891	blood:	n/a	n/a
11	POLR2A	chr14:24628755-24643416	GM12878	blood:	n/a	n/a
12	POLR2A	chr14:24628891-24643060	GM12892	blood:	n/a	n/a
13	POLR2A	chr14:24628761-24637814	GM12892	blood:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:24562956..24565293-chr14:24631762..24633891,2	MCF-7	breast:
2	chr14:24631619..24637585-chr14:24644952..24647499,6	K562	blood:
3	chr14:24615467..24617624-chr14:24629308..24633322,3	K562	blood:
4	chr14:24631879..24637788-chr14:24639506..24644553,5	K562	blood:
5	chr14:24630385..24632878-chr14:24633609..24637546,6	K562	blood:
6	chr14:24627382..24636644-chr14:24680297..24686914,11	MCF-7	breast:
7	chr14:24581560..24585367-chr14:24626129..24634058,10	MCF-7	breast:
8	chr14:24629462..24633065-chr14:24656618..24659351,3	K562	blood:
9	chr14:24628862..24633065-chr14:24656261..24659048,5	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RNF31-2	chr14:24632821-24633168	NONHSAT035996

No data

Variant related genes	Relation type
IRF9	TF binding region
ENSG00000254692	Chromatin interaction
ENSG00000129535	Chromatin interaction
ENSG00000100911	Chromatin interaction
ENSG00000260669	Chromatin interaction
ENSG00000254505	Chromatin interaction
ENSG00000100889	Chromatin interaction
ENSG00000100897	Chromatin interaction
ENSG00000213920	Chromatin interaction
ENSG00000100918	Chromatin interaction
ENSG00000196497	Chromatin interaction
ENSG00000092098	Chromatin interaction
ENSG00000213928	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10131288	1.00[ASN][1000 genomes]
rs10132189	1.00[ASN][1000 genomes]
rs10136993	1.00[ASN][1000 genomes]
rs10140260	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10142080	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10143943	1.00[ASN][1000 genomes]
rs10144791	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10146665	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17101758	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28373297	1.00[EUR][1000 genomes]
rs28396996	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28435365	1.00[ASN][1000 genomes]
rs28533649	1.00[ASN][1000 genomes]
rs28589355	1.00[ASN][1000 genomes]
rs28636804	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4470080	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7151467	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8005722	1.00[ASN][1000 genomes]
rs8008047	1.00[ASN][1000 genomes]
rs8011199	1.00[ASN][1000 genomes]
rs8012049	1.00[ASN][1000 genomes]
rs8019514	1.00[ASN][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	esv3405661	chr14:24189883-24670942	Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	131 gene(s)	inside rSNPs	diseases
2	esv1827678	chr14:24520544-24663325	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	106 gene(s)	inside rSNPs	diseases
3	nsv869985	chr14:24578013-24652669	Genic enhancers Flanking Active TSS Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
4	nsv901498	chr14:24591892-24662177	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 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	chr14:24631000-24633400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr14:24631000-24640600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr14:24631200-24633000	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr14:24631200-24633000	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr14:24631200-24634000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr14:24631200-24634600	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
7	chr14:24631200-24640600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr14:24631400-24634600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr14:24631400-24635400	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr14:24631400-24635400	Strong transcription	HUES6 Cell Line	embryonic stem cell
11	chr14:24631600-24633000	Weak transcription	Psoas Muscle	Psoas
12	chr14:24631600-24633400	Genic enhancers	NHEK	skin
13	chr14:24631600-24634200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr14:24631600-24634200	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr14:24631600-24634400	Genic enhancers	Primary B cells from peripheral blood	blood
16	chr14:24631600-24636200	Strong transcription	Fetal Brain Female	brain
17	chr14:24631600-24637200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr14:24631600-24637200	Strong transcription	A549	lung
19	chr14:24631600-24640400	Weak transcription	Fetal Brain Male	brain
20	chr14:24631600-24653800	Weak transcription	K562	blood
21	chr14:24631800-24633000	Genic enhancers	Liver	Liver
22	chr14:24631800-24633200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr14:24631800-24633400	Genic enhancers	Stomach Mucosa	stomach
24	chr14:24631800-24633600	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
25	chr14:24631800-24633800	Genic enhancers	Primary T cells from cord blood	blood
26	chr14:24631800-24634400	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
27	chr14:24631800-24634400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr14:24631800-24634400	Genic enhancers	Placenta	Placenta
29	chr14:24631800-24634600	Genic enhancers	Spleen	Spleen
30	chr14:24631800-24635400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr14:24631800-24636200	Strong transcription	Brain Germinal Matrix	brain
32	chr14:24632000-24633000	Genic enhancers	Brain Inferior Temporal Lobe	brain
33	chr14:24632000-24633400	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
34	chr14:24632000-24634600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr14:24632000-24635400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
36	chr14:24632000-24635400	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
37	chr14:24632000-24635400	Strong transcription	HMEC	breast
38	chr14:24632000-24635600	Strong transcription	HSMM	muscle
39	chr14:24632000-24636000	Strong transcription	HUVEC	blood vessel
40	chr14:24632000-24636200	Strong transcription	Cortex derived primary cultured neurospheres	brain
41	chr14:24632000-24636600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
42	chr14:24632000-24637200	Strong transcription	Fetal Lung	lung
43	chr14:24632000-24637200	Strong transcription	HepG2	liver
44	chr14:24632000-24639200	Strong transcription	Osteobl	bone
45	chr14:24632200-24633000	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
46	chr14:24632200-24633200	Genic enhancers	Colonic Mucosa	Colon
47	chr14:24632200-24633600	Genic enhancers	Brain Hippocampus Middle	brain
48	chr14:24632200-24634200	Genic enhancers	Pancreas	Pancrea
49	chr14:24632200-24634400	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
50	chr14:24632200-24636200	Strong transcription	NH-A	brain

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