Variant report

Variant	rs223381
Chromosome Location	chr4:103753735-103753736
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:103746553..103755574-chr4:103787108..103794302,29	MCF-7	breast:
2	chr4:103752245..103754130-chr4:103788916..103792073,3	K562	blood:
3	chr4:103736995..103756245-chr4:103778393..103800311,117	K562	blood:
4	chr4:103751293..103754271-chr4:103761143..103763957,2	MCF-7	breast:
5	chr4:103753653..103757085-chr4:103771597..103776284,4	K562	blood:

Variant related genes	Relation type
ENSG00000145354	Chromatin interaction
ENSG00000109332	Chromatin interaction
ENSG00000238948	Chromatin interaction

Extended variants
information (count: 99 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:98)

rs_ID	r²[population]
rs10003326	0.96[CEU][hapmap]
rs10012413	1.00[CEU][hapmap]
rs10015289	0.96[CEU][hapmap]
rs1080081	0.88[CEU][hapmap]
rs11097796	0.92[CEU][hapmap]
rs11722779	0.96[CEU][hapmap]
rs11731885	0.96[CEU][hapmap]
rs11737544	0.93[CEU][hapmap]
rs12500379	0.96[CEU][hapmap]
rs12508069	0.96[CEU][hapmap]
rs13150426	0.93[CEU][hapmap]
rs1383733	0.92[CEU][hapmap]
rs150893	1.00[CEU][hapmap]
rs150895	0.96[CEU][hapmap]
rs17033381	0.96[CEU][hapmap]
rs2086499	0.91[CEU][hapmap]
rs223308	0.96[CEU][hapmap]
rs223313	0.88[CEU][hapmap]
rs223314	1.00[CEU][hapmap]
rs223315	0.96[CEU][hapmap]
rs223318	0.96[CEU][hapmap]
rs223324	1.00[CEU][hapmap]
rs223326	1.00[CEU][hapmap]
rs223330	1.00[CEU][hapmap]
rs223334	0.96[CEU][hapmap]
rs223339	0.96[CEU][hapmap]
rs223349	1.00[CEU][hapmap]
rs223353	1.00[CEU][hapmap]
rs223356	1.00[CEU][hapmap]
rs223358	1.00[CEU][hapmap]
rs223359	0.96[CEU][hapmap]
rs223363	0.96[CEU][hapmap]
rs223367	0.96[CEU][hapmap]
rs223383	0.96[CEU][hapmap]
rs223385	0.96[CEU][hapmap]
rs223390	1.00[CEU][hapmap]
rs223392	1.00[CEU][hapmap]
rs223395	0.96[CEU][hapmap]
rs223397	0.96[CEU][hapmap]
rs223400	1.00[CEU][hapmap]
rs223410	1.00[CEU][hapmap]
rs223412	1.00[CEU][hapmap]
rs223418	1.00[CEU][hapmap]
rs223419	1.00[CEU][hapmap]
rs223420	0.88[CEU][hapmap]
rs223425	1.00[CEU][hapmap]
rs223438	1.00[CEU][hapmap]
rs223441	0.96[CEU][hapmap]
rs223446	1.00[CEU][hapmap]
rs223447	1.00[CEU][hapmap]
rs223448	0.96[CEU][hapmap]
rs223450	1.00[CEU][hapmap]
rs223452	1.00[CEU][hapmap]
rs223454	0.96[CEU][hapmap]
rs223457	0.96[CEU][hapmap]
rs223458	1.00[CEU][hapmap]
rs223461	0.96[CEU][hapmap]
rs223467	0.96[CEU][hapmap]
rs223474	0.96[CEU][hapmap]
rs223475	0.96[CEU][hapmap]
rs223484	0.96[CEU][hapmap]
rs223486	0.92[CEU][hapmap]
rs223497	0.89[CEU][hapmap]
rs28445579	0.92[CEU][hapmap]
rs2866417	0.93[CEU][hapmap]
rs3774987	1.00[CEU][hapmap]
rs3886722	0.93[CEU][hapmap]
rs3886723	0.92[CEU][hapmap]
rs3974485	0.93[CEU][hapmap]
rs3974604	0.96[CEU][hapmap]
rs3974608	0.93[CEU][hapmap]
rs4623004	0.92[CEU][hapmap]
rs4698874	0.92[CEU][hapmap]
rs4699049	0.92[CEU][hapmap]
rs5028609	0.93[CEU][hapmap]
rs6419160	0.92[CEU][hapmap]
rs6533041	0.93[CEU][hapmap]
rs6533050	0.92[CEU][hapmap]
rs6533051	0.92[CEU][hapmap]
rs6533052	0.92[CEU][hapmap]
rs65671	1.00[CEU][hapmap]
rs6810668	0.92[CEU][hapmap]
rs6823625	0.96[CEU][hapmap]
rs6824070	0.96[CEU][hapmap]
rs6842179	0.96[CEU][hapmap]
rs6846762	1.00[CEU][hapmap]
rs6852141	0.96[CEU][hapmap]
rs6853193	0.96[CEU][hapmap]
rs724447	0.96[CEU][hapmap]
rs7254	0.96[CEU][hapmap]
rs7663876	0.93[CEU][hapmap]
rs7672319	0.92[CEU][hapmap]
rs7676765	0.96[CEU][hapmap]
rs7676943	0.93[CEU][hapmap]
rs7681629	0.96[CEU][hapmap]
rs7685399	0.92[CEU][hapmap]
rs7698608	0.92[CEU][hapmap]
rs9999303	0.96[CEU][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv594957	chr4:103728010-103870091	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers 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	46 gene(s)	inside rSNPs	diseases

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs223381	KRT8P46	cis	lung	GTEx
rs223381	CISD2	cis	multi-tissue	Pritchard
rs223381	MANBA	cis	multi-tissue	Pritchard
rs223381	LRRC37A15P	cis	lung	GTEx
rs223381	CISD2	cis	Skin Sun Exposed Lower leg	GTEx
rs223381	CISD2	cis	Esophagus Muscularis	GTEx
rs223381	CISD2	Cis_1M	lymphoblastoid	RTeQTL
rs223381	CISD2	cis	Nerve Tibial	GTEx
rs223381	MANBA	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:103750000-103753800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr4:103750000-103763000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr4:103750000-103770600	Weak transcription	Fetal Muscle Trunk	muscle
4	chr4:103750600-103753800	Weak transcription	Left Ventricle	heart
5	chr4:103750600-103755000	Weak transcription	Pancreas	Pancrea
6	chr4:103750600-103760800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr4:103750600-103766400	Weak transcription	Stomach Smooth Muscle	stomach
8	chr4:103750600-103767000	Weak transcription	Psoas Muscle	Psoas
9	chr4:103750600-103770400	Weak transcription	Fetal Muscle Leg	muscle
10	chr4:103750600-103771200	Weak transcription	Brain Angular Gyrus	brain
11	chr4:103750800-103753800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr4:103750800-103754000	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr4:103750800-103754800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr4:103750800-103762000	Weak transcription	Brain Substantia Nigra	brain
15	chr4:103750800-103764600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr4:103750800-103765000	Weak transcription	HSMM	muscle
17	chr4:103750800-103765800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr4:103750800-103766000	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr4:103750800-103766400	Weak transcription	Primary B cells from cord blood	blood
20	chr4:103750800-103766400	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr4:103750800-103766600	Weak transcription	Adipose Nuclei	Adipose
22	chr4:103750800-103771400	Weak transcription	Primary hematopoietic stem cells	blood
23	chr4:103750800-103788000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr4:103751000-103755600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr4:103751000-103764600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr4:103751000-103766400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr4:103751200-103762800	Weak transcription	Fetal Intestine Small	intestine
28	chr4:103751400-103754000	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr4:103751400-103754400	Weak transcription	Fetal Heart	heart
30	chr4:103751400-103762600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr4:103751400-103766600	Weak transcription	Brain Hippocampus Middle	brain
32	chr4:103751600-103780200	Weak transcription	Dnd41	blood
33	chr4:103751800-103755000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr4:103751800-103755200	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr4:103752800-103754000	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr4:103753000-103753800	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr4:103753000-103754400	Enhancers	Primary T cells from cord blood	blood
38	chr4:103753200-103753800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr4:103753200-103753800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr4:103753200-103753800	Enhancers	Thymus	Thymus
41	chr4:103753200-103754000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr4:103753200-103754200	Enhancers	Fetal Thymus	thymus
43	chr4:103753200-103760400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr4:103753400-103754800	Enhancers	HepG2	liver
45	chr4:103753600-103754000	Enhancers	K562	blood
46	chr4:103753600-103754400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr4:103753600-103776000	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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