Variant report

Variant	rs553650644
Chromosome Location	chr8:67996371-67996372
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:67993604-67996666	K562	blood:	n/a	n/a
2	STAT3	chr8:67996326-67996503	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:67973320..67975625-chr8:67995468..67997290,2	K562	blood:

Variant related genes	Relation type
COPS5	TF binding region
ENSG00000121022	Chromatin interaction
ENSG00000104218	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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	nsv1016742	chr8:67917418-68125319	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv539639	chr8:67917418-68125319	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv890975	chr8:67983796-68032058	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv611458	chr8:67986890-68016482	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv611459	chr8:67995266-68015219	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	esv1795021	chr8:67995266-68068812	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	esv1846804	chr8:67995266-68074422	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	esv1802127	chr8:67995266-68076723	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67977600-67998200	Weak transcription	Gastric	stomach
2	chr8:67977800-68009200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr8:67977800-68010000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr8:67977800-68013800	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr8:67977800-68021800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr8:67977800-68044000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr8:67978000-67996800	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr8:67978000-68012200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr8:67978200-68006000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr8:67978200-68012600	Weak transcription	HUVEC	blood vessel
11	chr8:67978200-68074400	Weak transcription	Esophagus	oesophagus
12	chr8:67978400-68044800	Weak transcription	Brain Angular Gyrus	brain
13	chr8:67978400-68045600	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr8:67978600-67998000	Weak transcription	NHEK	skin
15	chr8:67978600-68007000	Weak transcription	Brain Substantia Nigra	brain
16	chr8:67978600-68008000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr8:67978600-68031200	Weak transcription	Fetal Heart	heart
18	chr8:67978600-68074200	Weak transcription	Psoas Muscle	Psoas
19	chr8:67978800-68044200	Weak transcription	Colon Smooth Muscle	Colon
20	chr8:67979400-68013200	Weak transcription	Pancreas	Pancrea
21	chr8:67984200-68009200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr8:67986400-68045400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr8:67988000-68004800	Weak transcription	Thymus	Thymus
24	chr8:67988200-68007000	Weak transcription	Fetal Brain Male	brain
25	chr8:67988200-68007000	Weak transcription	Fetal Kidney	kidney
26	chr8:67988200-68014000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr8:67988200-68038800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr8:67988200-68074800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr8:67988400-68002800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr8:67988400-68035000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr8:67990400-68074400	Weak transcription	Spleen	Spleen
32	chr8:67990800-68009600	Weak transcription	Small Intestine	intestine
33	chr8:67991000-67999000	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr8:67991000-68021400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr8:67991200-68011400	Weak transcription	Fetal Intestine Small	intestine
36	chr8:67991200-68035000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr8:67991400-67997800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr8:67991600-68007800	Weak transcription	Right Ventricle	heart
39	chr8:67991800-68003000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr8:67991800-68006200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr8:67991800-68036800	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr8:67992000-67999400	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr8:67992000-67999600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr8:67992200-68002600	Weak transcription	Primary B cells from peripheral blood	blood
45	chr8:67993000-67998400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr8:67993000-67998400	Weak transcription	Primary T helper cells fromperipheralblood	blood
47	chr8:67993200-67998200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr8:67993200-67998200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr8:67993200-67998400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr8:67993200-67998400	Weak transcription	Primary B cells from cord blood	blood

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