Variant report

Variant	rs7838950
Chromosome Location	chr8:67562065-67562066
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	chr8:67560374..67562874-chr8:67563699..67566056,2	K562	blood:
2	chr8:67561740..67563926-chr8:67579315..67582024,2	K562	blood:

Variant related genes	Relation type
ENSG00000213865	Chromatin interaction
ENSG00000270024	Chromatin interaction
ENSG00000175073	Chromatin interaction
ENSG00000201365	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1909534	0.83[MKK][hapmap];0.85[YRI][hapmap]
rs4641051	0.96[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs73259801	1.00[AMR][1000 genomes]
rs7818633	1.00[ASW][hapmap];0.89[LWK][hapmap];0.97[MKK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7828663	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7839824	0.89[LWK][hapmap];0.82[MKK][hapmap];0.87[YRI][hapmap];1.00[AMR][1000 genomes]
rs7842774	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3446467	chr8:66749863-67667068	Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	nsv831346	chr8:67486555-67675324	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67539400-67574000	Weak transcription	Spleen	Spleen
2	chr8:67545200-67562400	Weak transcription	Fetal Heart	heart
3	chr8:67545200-67575200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr8:67545400-67562400	Weak transcription	Fetal Kidney	kidney
5	chr8:67545400-67575000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr8:67545600-67567000	Weak transcription	Small Intestine	intestine
7	chr8:67545600-67574400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr8:67546200-67576800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr8:67547200-67563800	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr8:67547200-67574200	Weak transcription	Fetal Brain Male	brain
11	chr8:67547400-67562200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr8:67547400-67562400	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr8:67547400-67562400	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr8:67547400-67574400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr8:67547400-67574400	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr8:67547400-67574600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr8:67547600-67562400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr8:67547600-67562400	Weak transcription	HUVEC	blood vessel
19	chr8:67547600-67562600	Weak transcription	K562	blood
20	chr8:67547600-67566200	Weak transcription	Gastric	stomach
21	chr8:67547600-67566200	Weak transcription	Ovary	ovary
22	chr8:67547600-67572200	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr8:67547600-67572400	Weak transcription	Aorta	Aorta
24	chr8:67547600-67573200	Weak transcription	Colon Smooth Muscle	Colon
25	chr8:67547600-67574400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr8:67547600-67575800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr8:67547600-67576600	Weak transcription	Esophagus	oesophagus
28	chr8:67547800-67574200	Weak transcription	Hela-S3	cervix
29	chr8:67548000-67576600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr8:67549400-67562600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr8:67551800-67568000	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr8:67552200-67567000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr8:67553400-67562600	Weak transcription	Right Ventricle	heart
34	chr8:67553800-67566400	Weak transcription	Pancreas	Pancrea
35	chr8:67553800-67566800	Weak transcription	Primary T cells from cord blood	blood
36	chr8:67553800-67574000	Weak transcription	Brain Germinal Matrix	brain
37	chr8:67554800-67562200	Weak transcription	NHLF	lung
38	chr8:67555800-67567000	Weak transcription	Psoas Muscle	Psoas
39	chr8:67556000-67566800	Weak transcription	Brain Angular Gyrus	brain
40	chr8:67556400-67574000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr8:67556600-67574200	Weak transcription	Brain Cingulate Gyrus	brain
42	chr8:67556800-67562200	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr8:67556800-67564600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
44	chr8:67556800-67574200	Weak transcription	Brain Substantia Nigra	brain
45	chr8:67557000-67562400	Weak transcription	Brain Anterior Caudate	brain
46	chr8:67557000-67564800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr8:67557000-67564800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr8:67557000-67564800	Strong transcription	Fetal Intestine Small	intestine
49	chr8:67557200-67564600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr8:67557200-67565000	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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