Variant report

Variant	rs73682546
Chromosome Location	chr8:54630154-54630155
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	chr8:54627356..54630312-chr8:54633637..54635175,2	K562	blood:
2	chr8:54629241..54631291-chr8:54638690..54641108,3	MCF-7	breast:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs56222736	1.00[AFR][1000 genomes]
rs56325119	1.00[AFR][1000 genomes]
rs57017768	1.00[AFR][1000 genomes]
rs57348174	1.00[AFR][1000 genomes]
rs57663732	1.00[AFR][1000 genomes]
rs58274230	1.00[AFR][1000 genomes]
rs58960877	1.00[AFR][1000 genomes]
rs59675285	1.00[AFR][1000 genomes]
rs61309000	1.00[AFR][1000 genomes]
rs73680333	1.00[AFR][1000 genomes]
rs73680339	1.00[AFR][1000 genomes]
rs73682545	1.00[AFR][1000 genomes]
rs73682554	1.00[AFR][1000 genomes]
rs73682558	1.00[AFR][1000 genomes]
rs73682562	1.00[AFR][1000 genomes]
rs73682565	1.00[AFR][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	esv2758159	chr8:54474589-54737473	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	esv2759616	chr8:54474589-54737473	Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54613600-54634800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr8:54620800-54636200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr8:54620800-54636200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr8:54621400-54643600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr8:54622200-54632800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr8:54624200-54635800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr8:54624200-54640600	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr8:54624200-54643600	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr8:54624600-54639200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr8:54625000-54640000	Weak transcription	Fetal Thymus	thymus
11	chr8:54625000-54642000	Weak transcription	Brain Substantia Nigra	brain
12	chr8:54625200-54634600	Weak transcription	Pancreas	Pancrea
13	chr8:54625200-54635800	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr8:54625200-54639800	Weak transcription	Thymus	Thymus
15	chr8:54625200-54641200	Weak transcription	Brain Angular Gyrus	brain
16	chr8:54625200-54649000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr8:54625200-54649600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr8:54625400-54630600	Weak transcription	Fetal Intestine Small	intestine
19	chr8:54625400-54631800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr8:54625400-54634000	Weak transcription	NHDF-Ad	bronchial
21	chr8:54625400-54634200	Weak transcription	Primary hematopoietic stem cells	blood
22	chr8:54625400-54634600	Weak transcription	Esophagus	oesophagus
23	chr8:54625400-54634800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr8:54625400-54634800	Weak transcription	Brain Cingulate Gyrus	brain
25	chr8:54625400-54634800	Weak transcription	Left Ventricle	heart
26	chr8:54625400-54636200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr8:54625400-54636200	Weak transcription	Aorta	Aorta
28	chr8:54625400-54639200	Weak transcription	Brain Anterior Caudate	brain
29	chr8:54625400-54639400	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr8:54625400-54639600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr8:54625400-54639600	Weak transcription	Fetal Lung	lung
32	chr8:54625400-54639800	Weak transcription	Fetal Intestine Large	intestine
33	chr8:54625400-54639800	Weak transcription	Fetal Muscle Trunk	muscle
34	chr8:54625400-54639800	Weak transcription	HMEC	breast
35	chr8:54625400-54639800	Weak transcription	NH-A	brain
36	chr8:54625400-54640000	Weak transcription	Duodenum Mucosa	Duodenum
37	chr8:54625400-54640600	Weak transcription	Fetal Brain Female	brain
38	chr8:54625400-54640600	Weak transcription	Psoas Muscle	Psoas
39	chr8:54625400-54640600	Weak transcription	Right Ventricle	heart
40	chr8:54625400-54640600	Weak transcription	NHLF	lung
41	chr8:54625400-54641800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr8:54625400-54641800	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr8:54625400-54641800	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr8:54625400-54642000	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr8:54625400-54642000	Weak transcription	Fetal Muscle Leg	muscle
46	chr8:54625400-54645200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr8:54625400-54645800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr8:54625400-54646800	Weak transcription	Fetal Kidney	kidney
49	chr8:54625400-54649400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr8:54625600-54634600	Weak transcription	Duodenum Smooth Muscle	Duodenum

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