Variant report

Variant	rs6841819
Chromosome Location	chr4:99944097-99944098
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:99942650..99945674-chr6:26595832..26598932,6	K562	blood:
2	chr4:99942655..99945658-chr6:26596311..26598592,3	MCF-7	breast:
3	chr4:99915525..99918321-chr4:99942451..99944575,2	K562	blood:

Variant related genes	Relation type
ENSG00000164024	Chromatin interaction
ENSG00000146109	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs17216080	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	nsv1009017	chr4:99669441-100406394	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6841819	ADH5	cis	brain	BrainEAC

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:99931600-99971400	Weak transcription	Aorta	Aorta
2	chr4:99932600-99969800	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr4:99934800-99944800	Weak transcription	Small Intestine	intestine
4	chr4:99935000-99945400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr4:99935400-99945600	Weak transcription	Colon Smooth Muscle	Colon
6	chr4:99935600-99944400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
7	chr4:99937600-99944400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr4:99937600-99966200	Weak transcription	HUVEC	blood vessel
9	chr4:99938200-99944400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr4:99938800-99944400	ZNF genes & repeats	Fetal Muscle Leg	muscle
11	chr4:99938800-99945600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr4:99939400-99944400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
13	chr4:99940800-99944200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
14	chr4:99940800-99944400	ZNF genes & repeats	GM12878-XiMat	blood
15	chr4:99941000-99944200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr4:99941000-99944400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr4:99941000-99944400	ZNF genes & repeats	Fetal Thymus	thymus
18	chr4:99941400-99944200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr4:99941400-99944400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr4:99941400-99944400	ZNF genes & repeats	Fetal Stomach	stomach
21	chr4:99941600-99944200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr4:99941600-99944200	ZNF genes & repeats	Primary B cells from cord blood	blood
23	chr4:99941600-99944400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr4:99942200-99950400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr4:99942200-99969600	Weak transcription	Fetal Brain Female	brain
26	chr4:99942400-99944200	Strong transcription	Primary T cells from cord blood	blood
27	chr4:99942400-99944200	Enhancers	Right Atrium	heart
28	chr4:99942400-99945600	Weak transcription	Fetal Lung	lung
29	chr4:99942600-99944200	Weak transcription	A549	lung
30	chr4:99942600-99944400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr4:99942600-99945400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr4:99942600-99946800	Weak transcription	Psoas Muscle	Psoas
33	chr4:99942600-99950000	Weak transcription	Dnd41	blood
34	chr4:99942600-99953400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr4:99942800-99944200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr4:99942800-99945000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr4:99942800-99945400	Weak transcription	Primary T helper cells fromperipheralblood	blood
38	chr4:99942800-99945600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr4:99942800-99946200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr4:99942800-99946200	Weak transcription	Ovary	ovary
41	chr4:99942800-99948800	Weak transcription	NHDF-Ad	bronchial
42	chr4:99942800-99955800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr4:99942800-99957000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr4:99943000-99944200	Enhancers	Right Ventricle	heart
45	chr4:99943000-99944800	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr4:99943000-99945200	Enhancers	Fetal Heart	heart
47	chr4:99943000-99949600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr4:99943000-99951400	Weak transcription	HMEC	breast
49	chr4:99943000-99959200	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr4:99943200-99944400	Enhancers	Primary T cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links