Variant report

Variant	rs4238553
Chromosome Location	chr15:31513255-31513256
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:31505148..31511050-chr15:31511462..31517687,6	K562	blood:

Variant related genes	Relation type
ENSG00000259448	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12323983	1.00[EUR][1000 genomes]
rs12324329	1.00[EUR][1000 genomes]
rs12324591	1.00[EUR][1000 genomes]
rs6493530	1.00[EUR][1000 genomes]
rs73381205	1.00[EUR][1000 genomes]
rs74013332	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531138	chr15:30653877-31609679	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	nsv903831	chr15:30986051-31723279	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers 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	84 gene(s)	inside rSNPs	diseases
3	nsv1054147	chr15:31014507-31972706	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
4	nsv542306	chr15:31014507-31972706	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS 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	87 gene(s)	inside rSNPs	diseases
5	nsv1036018	chr15:31140415-31544888	Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
6	nsv1052722	chr15:31261834-31609680	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
7	nsv542315	chr15:31261834-31609680	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
8	nsv932896	chr15:31292475-31730445	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
9	nsv903838	chr15:31452911-31672128	Strong transcription Flanking Active TSS Enhancers Genic enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
10	esv1815415	chr15:31483843-31697213	Genic enhancers Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
11	nsv903839	chr15:31495113-31576677	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
12	esv34100	chr15:31496514-31792591	Active TSS Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
13	nsv977067	chr15:31509197-31523063	Genic enhancers Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:31508400-31514600	Weak transcription	Small Intestine	intestine
2	chr15:31508400-31516000	Weak transcription	Aorta	Aorta
3	chr15:31509000-31514200	Weak transcription	Psoas Muscle	Psoas
4	chr15:31509200-31514000	Weak transcription	Primary hematopoietic stem cells	blood
5	chr15:31509200-31514200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr15:31509200-31514200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr15:31509200-31514200	Weak transcription	Pancreas	Pancrea
8	chr15:31509200-31515200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr15:31509200-31515200	Weak transcription	Right Ventricle	heart
10	chr15:31509200-31515400	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr15:31509200-31515400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr15:31509200-31515400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr15:31509400-31514200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr15:31509400-31514200	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr15:31509400-31514200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr15:31509400-31514200	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr15:31509400-31514200	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr15:31509400-31514400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr15:31509400-31514400	Weak transcription	Brain Angular Gyrus	brain
20	chr15:31509400-31514400	Weak transcription	Brain Hippocampus Middle	brain
21	chr15:31509400-31514400	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr15:31509400-31514600	Weak transcription	Adipose Nuclei	Adipose
23	chr15:31509400-31514600	Weak transcription	Brain Substantia Nigra	brain
24	chr15:31509400-31514800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr15:31509400-31514800	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr15:31509400-31515200	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr15:31509400-31515200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr15:31509400-31515200	Weak transcription	Brain Anterior Caudate	brain
29	chr15:31509400-31515200	Weak transcription	Colonic Mucosa	Colon
30	chr15:31509600-31513800	Weak transcription	Fetal Intestine Large	intestine
31	chr15:31509600-31514000	Weak transcription	Fetal Intestine Small	intestine
32	chr15:31509600-31514200	Weak transcription	Fetal Muscle Leg	muscle
33	chr15:31509600-31514200	Weak transcription	A549	lung
34	chr15:31509600-31514200	Enhancers	Monocytes-CD14+_RO01746	blood
35	chr15:31509600-31514400	Enhancers	Primary neutrophils fromperipheralblood	blood
36	chr15:31509600-31514400	Weak transcription	Primary T cells from cord blood	blood
37	chr15:31509600-31514600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr15:31509600-31514600	Weak transcription	Liver	Liver
39	chr15:31509600-31515000	Weak transcription	Brain Cingulate Gyrus	brain
40	chr15:31509600-31515400	Weak transcription	Brain Germinal Matrix	brain
41	chr15:31509600-31520600	Weak transcription	HepG2	liver
42	chr15:31509800-31514400	Weak transcription	Primary T helper cells PMA-I stimulated	--
43	chr15:31509800-31514400	Weak transcription	Hela-S3	cervix
44	chr15:31510400-31514000	Weak transcription	Duodenum Mucosa	Duodenum
45	chr15:31510400-31514200	Weak transcription	Primary B cells from peripheral blood	blood
46	chr15:31510400-31514200	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr15:31510400-31514200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr15:31510400-31515000	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr15:31510400-31515400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr15:31510800-31514200	Weak transcription	Primary T helper cells fromperipheralblood	blood

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