Variant report

Variant	rs13110115
Chromosome Location	chr4:95459422-95459423
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:95457924..95459634-chr4:95461855..95464045,2	K562	blood:
2	chr4:95453797..95455503-chr4:95458519..95460892,2	K562	blood:
3	chr4:95389173..95390941-chr4:95459071..95461024,2	K562	blood:
4	chr4:95373005..95374779-chr4:95458534..95460335,2	K562	blood:
5	chr4:95458379..95460078-chr4:95465243..95467289,2	K562	blood:
6	chr4:95455418..95457640-chr4:95458337..95460219,4	K562	blood:

Variant related genes	Relation type
ENSG00000163110	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10034824	0.88[CHB][hapmap]
rs1032420	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12500426	0.82[CHB][hapmap]
rs12639887	0.82[CHB][hapmap]
rs12642449	0.82[CHB][hapmap]
rs12645971	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13122786	0.83[CHB][hapmap]
rs13143502	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13146878	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17394213	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1972011	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2452008	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2452010	0.92[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2452563	0.84[CEU][hapmap]
rs2452569	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2452570	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2452571	0.96[CEU][hapmap];0.96[CHB][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2452572	0.89[ASN][1000 genomes]
rs2452574	0.89[CEU][hapmap];1.00[CHB][hapmap];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2452575	0.96[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2452576	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2452577	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2452580	0.96[CEU][hapmap];0.90[CHB][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2452582	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2452584	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2452585	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2452586	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2452589	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2452601	0.82[CHB][hapmap]
rs2510768	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2510769	0.87[CHB][hapmap];0.86[JPT][hapmap];0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2510772	0.84[CEU][hapmap];0.91[CHB][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2510774	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2510775	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2510776	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2510777	0.96[CEU][hapmap];0.95[CHB][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2510779	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2510780	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2510781	0.92[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2510793	0.82[CEU][hapmap]
rs3792666	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3805263	0.82[CHB][hapmap]
rs3805266	0.82[CHB][hapmap]
rs3805285	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3843444	0.83[CHB][hapmap]
rs4634230	0.82[CHB][hapmap]
rs4699505	0.96[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7662466	0.82[CHB][hapmap]
rs766520	0.81[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv993495	chr4:94992315-95482578	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv594901	chr4:95254730-95493246	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv1003743	chr4:95255957-95469831	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:95422400-95482800	Weak transcription	Fetal Muscle Trunk	muscle
2	chr4:95442000-95469600	Weak transcription	Primary T cells from cord blood	blood
3	chr4:95449200-95470200	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr4:95449800-95460400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr4:95450400-95465800	Weak transcription	Lung	lung
6	chr4:95450600-95459600	Weak transcription	Brain Angular Gyrus	brain
7	chr4:95453800-95459600	Weak transcription	NHDF-Ad	bronchial
8	chr4:95453800-95460400	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr4:95453800-95465400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr4:95454600-95460200	Enhancers	Colon Smooth Muscle	Colon
11	chr4:95454600-95462600	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr4:95455600-95460000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr4:95455800-95460200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr4:95456000-95459600	Enhancers	H1 Cell Line	embryonic stem cell
15	chr4:95456200-95463200	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr4:95456400-95459600	Enhancers	A549	lung
17	chr4:95456400-95460600	Weak transcription	NHEK	skin
18	chr4:95456400-95462800	Enhancers	HSMMtube	muscle
19	chr4:95456600-95459800	Enhancers	Duodenum Smooth Muscle	Duodenum
20	chr4:95456600-95460200	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr4:95456600-95460800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr4:95456800-95460800	Weak transcription	HMEC	breast
23	chr4:95456800-95465000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr4:95456800-95469800	Weak transcription	Ovary	ovary
25	chr4:95456800-95470200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr4:95457000-95459600	Enhancers	HSMM	muscle
27	chr4:95457000-95469800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr4:95457200-95459600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr4:95457200-95459800	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr4:95457200-95460000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr4:95457400-95459600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr4:95457400-95459600	Weak transcription	Aorta	Aorta
33	chr4:95457400-95459600	Weak transcription	Psoas Muscle	Psoas
34	chr4:95457400-95459800	Enhancers	Stomach Mucosa	stomach
35	chr4:95457400-95459800	Enhancers	Osteobl	bone
36	chr4:95457400-95461400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr4:95457400-95461600	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr4:95457400-95462000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr4:95457400-95462800	Weak transcription	Left Ventricle	heart
40	chr4:95457400-95465800	Weak transcription	Pancreas	Pancrea
41	chr4:95457400-95469800	Weak transcription	Fetal Muscle Leg	muscle
42	chr4:95457400-95470000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr4:95457400-95485400	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr4:95457600-95465600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr4:95457800-95459800	Enhancers	NH-A	brain
46	chr4:95457800-95461200	Enhancers	Fetal Heart	heart
47	chr4:95457800-95466400	Weak transcription	Brain Substantia Nigra	brain
48	chr4:95458000-95460000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr4:95458000-95461600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr4:95458000-95469800	Weak transcription	Small Intestine	intestine

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