Variant report

Variant	rs12335283
Chromosome Location	chr8:61917767-61917768
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:61916700..61920504-chr8:61923815..61926099,3	K562	blood:
2	chr8:61915782..61918089-chr8:61971663..61974178,2	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10086776	0.82[AMR][1000 genomes]
rs10089780	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10095243	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10098608	0.88[ASN][1000 genomes]
rs13261682	0.88[ASN][1000 genomes]
rs16926675	0.88[ASN][1000 genomes]
rs28480198	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28625476	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35695994	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs716683	0.82[JPT][hapmap]
rs9692725	0.82[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv429919	chr8:61771472-61979873	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv948922	chr8:61818964-62475097	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv890948	chr8:61844766-61954970	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1020323	chr8:61901412-61941384	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61910000-61919400	Enhancers	Primary B cells from peripheral blood	blood
2	chr8:61911800-61923600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:61915000-61919400	Enhancers	Primary T cells fromperipheralblood	blood
4	chr8:61915200-61919000	Enhancers	Fetal Thymus	thymus
5	chr8:61915200-61920400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr8:61915200-61920600	Enhancers	Primary T helper naive cells from peripheral blood	blood
7	chr8:61915400-61919200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr8:61915400-61920400	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr8:61916200-61918000	Enhancers	Primary hematopoietic stem cells	blood
10	chr8:61916200-61918400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr8:61916400-61917800	Enhancers	H1 Cell Line	embryonic stem cell
12	chr8:61916400-61918400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr8:61916400-61918600	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr8:61916400-61919200	Enhancers	Brain Angular Gyrus	brain
15	chr8:61916400-61919400	Enhancers	Brain Cingulate Gyrus	brain
16	chr8:61916600-61918000	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr8:61916600-61918000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr8:61916600-61918000	Enhancers	Thymus	Thymus
19	chr8:61916600-61918400	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr8:61916600-61919200	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr8:61916600-61919200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
22	chr8:61916800-61918000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr8:61916800-61918000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr8:61916800-61918000	Enhancers	Rectal Mucosa Donor 29	rectum
25	chr8:61916800-61918200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
26	chr8:61916800-61918600	Enhancers	Fetal Muscle Trunk	muscle
27	chr8:61916800-61918800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr8:61916800-61918800	Enhancers	Fetal Muscle Leg	muscle
29	chr8:61916800-61919200	Bivalent Enhancer	Fetal Brain Male	brain
30	chr8:61916800-61920800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr8:61917000-61918200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
32	chr8:61917000-61918200	Flanking Active TSS	Brain Hippocampus Middle	brain
33	chr8:61917000-61918400	Enhancers	Psoas Muscle	Psoas
34	chr8:61917200-61917800	Flanking Active TSS	Primary T cells from cord blood	blood
35	chr8:61917200-61917800	Active TSS	Fetal Brain Female	brain
36	chr8:61917200-61918000	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr8:61917200-61918400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr8:61917200-61918800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr8:61917200-61925000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr8:61917400-61917800	Enhancers	Brain Germinal Matrix	brain
41	chr8:61917400-61917800	Flanking Active TSS	Brain Substantia Nigra	brain
42	chr8:61917400-61917800	Enhancers	GM12878-XiMat	blood
43	chr8:61917400-61918000	Enhancers	Primary neutrophils fromperipheralblood	blood
44	chr8:61917400-61918400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
45	chr8:61917400-61918400	Weak transcription	HMEC	breast
46	chr8:61917400-61918600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr8:61917400-61918600	Weak transcription	Fetal Intestine Small	intestine
48	chr8:61917400-61918800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr8:61917400-61919000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr8:61917400-61919800	Enhancers	Primary hematopoietic stem cells short term culture	blood

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