Variant report

Variant	rs6601444
Chromosome Location	chr8:10211175-10211176
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:10210498..10212696-chr8:10213697..10216016,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs17151854	0.84[CEU][hapmap]
rs17151859	0.95[CEU][hapmap]
rs4526367	0.95[CEU][hapmap]
rs4840480	0.95[CEU][hapmap]
rs6984111	0.95[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021921	chr8:9958259-10212555	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1030934	chr8:10065169-10561161	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv1016347	chr8:10091475-10223667	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv890347	chr8:10153082-10331636	Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv1022994	chr8:10190618-10660122	Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv539466	chr8:10190618-10660122	Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	nsv527326	chr8:10199548-10320019	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
8	nsv1018940	chr8:10200886-10220973	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6601444	DEFB136	cis	parietal	SCAN

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10192600-10282400	Weak transcription	Gastric	stomach
2	chr8:10193000-10215400	Weak transcription	Fetal Intestine Small	intestine
3	chr8:10193000-10235000	Weak transcription	Pancreas	Pancrea
4	chr8:10193600-10220400	Weak transcription	Brain Cingulate Gyrus	brain
5	chr8:10196800-10214200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr8:10196800-10228000	Weak transcription	Liver	Liver
7	chr8:10201800-10221800	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr8:10204000-10219800	Weak transcription	Stomach Smooth Muscle	stomach
9	chr8:10204400-10221800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr8:10206000-10213600	Enhancers	Fetal Brain Male	brain
11	chr8:10206200-10222800	Weak transcription	Aorta	Aorta
12	chr8:10206800-10214600	Enhancers	Fetal Thymus	thymus
13	chr8:10207000-10211200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr8:10207400-10211200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr8:10207400-10211200	Enhancers	Fetal Muscle Leg	muscle
16	chr8:10208000-10213000	Weak transcription	Spleen	Spleen
17	chr8:10208200-10212000	Enhancers	Thymus	Thymus
18	chr8:10208400-10211400	Enhancers	Primary T cells fromperipheralblood	blood
19	chr8:10208400-10211400	Enhancers	HSMMtube	muscle
20	chr8:10208400-10212000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
21	chr8:10208400-10218200	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr8:10208800-10211400	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr8:10208800-10220400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr8:10209000-10211400	Enhancers	Primary T helper cells fromperipheralblood	blood
25	chr8:10209000-10211800	Enhancers	Primary T helper naive cells from peripheral blood	blood
26	chr8:10209000-10212800	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr8:10209200-10212000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
28	chr8:10209200-10213600	Weak transcription	Primary hematopoietic stem cells	blood
29	chr8:10209400-10211800	Enhancers	HSMM	muscle
30	chr8:10209400-10220600	Weak transcription	Brain Angular Gyrus	brain
31	chr8:10209600-10211800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr8:10209600-10213600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr8:10209800-10211200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
34	chr8:10210400-10211200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr8:10210400-10211200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
36	chr8:10210400-10211200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr8:10210400-10211200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
38	chr8:10210400-10211200	Enhancers	Right Atrium	heart
39	chr8:10210400-10211800	Flanking Active TSS	Fetal Brain Female	brain
40	chr8:10210600-10218400	Weak transcription	Left Ventricle	heart
41	chr8:10210600-10220200	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr8:10210800-10211400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr8:10211000-10211400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
44	chr8:10211000-10211800	Enhancers	Primary T killer memory cells from peripheral blood	blood
45	chr8:10211000-10214000	Enhancers	Primary T cells from cord blood	blood
46	chr8:10211000-10215400	Enhancers	Placenta Amnion	Placenta Amnion

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