Variant report

Variant	rs192350301
Chromosome Location	chr8:38953565-38953566
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	chr8:38895697..38898348-chr8:38953067..38955793,2	K562	blood:

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	nsv1021581	chr8:38934014-39043954	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	esv3479122	chr8:38953461-38953991	Weak transcription Enhancers Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
3	esv3513924	chr8:38953500-38954003	Weak transcription Enhancers Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
4	esv3479124	chr8:38953510-38953965	Weak transcription Strong transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
5	esv3513926	chr8:38953513-38953954	Weak transcription Strong transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv3513925	chr8:38953527-38953937	Weak transcription Strong transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
7	esv2795	chr8:38953550-38953944	Weak transcription Strong transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
8	esv3479123	chr8:38953551-38953928	Weak transcription Strong transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:38897400-38963400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr8:38905000-38960000	Weak transcription	HSMMtube	muscle
3	chr8:38911800-38964800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:38914400-38964800	Weak transcription	Fetal Kidney	kidney
5	chr8:38914800-38964800	Weak transcription	Colonic Mucosa	Colon
6	chr8:38918000-38962600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr8:38919000-38970400	Weak transcription	K562	blood
8	chr8:38919600-38964800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr8:38920600-38963200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr8:38920800-38964800	Weak transcription	Fetal Brain Male	brain
11	chr8:38921000-38964800	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr8:38921000-38965000	Weak transcription	Gastric	stomach
13	chr8:38921600-38964800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr8:38926200-38963600	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr8:38932400-38964800	Weak transcription	Brain Germinal Matrix	brain
16	chr8:38934000-38960800	Weak transcription	Colon Smooth Muscle	Colon
17	chr8:38935600-38960200	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr8:38935600-38964800	Weak transcription	Brain Anterior Caudate	brain
19	chr8:38935800-38958800	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr8:38939200-38964800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr8:38941400-38960000	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr8:38941600-38956200	Weak transcription	GM12878-XiMat	blood
23	chr8:38941600-38960600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr8:38941600-38964800	Weak transcription	Psoas Muscle	Psoas
25	chr8:38944600-38965000	Weak transcription	Esophagus	oesophagus
26	chr8:38945200-38964800	Weak transcription	Fetal Heart	heart
27	chr8:38946400-38954400	Strong transcription	HUVEC	blood vessel
28	chr8:38946600-38964800	Weak transcription	Small Intestine	intestine
29	chr8:38946800-38964800	Weak transcription	Fetal Intestine Small	intestine
30	chr8:38946800-38964800	Weak transcription	Stomach Mucosa	stomach
31	chr8:38947800-38965000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr8:38949000-38959800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr8:38949400-38964600	Weak transcription	Fetal Muscle Trunk	muscle
34	chr8:38949400-38964800	Weak transcription	Brain Angular Gyrus	brain
35	chr8:38949600-38954600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr8:38949600-38954600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr8:38949600-38957600	Weak transcription	Fetal Muscle Leg	muscle
38	chr8:38949600-38958000	Weak transcription	Left Ventricle	heart
39	chr8:38949600-38958000	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr8:38949600-38958200	Weak transcription	Spleen	Spleen
41	chr8:38949600-38958400	Weak transcription	NHEK	skin
42	chr8:38949600-38958800	Weak transcription	Ovary	ovary
43	chr8:38949600-38959200	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr8:38949600-38959400	Weak transcription	Adipose Nuclei	Adipose
45	chr8:38949600-38959400	Weak transcription	Liver	Liver
46	chr8:38949600-38959600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr8:38949600-38959800	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr8:38949600-38960200	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr8:38949600-38960600	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr8:38949600-38960600	Weak transcription	Skeletal Muscle Male	skeletal muscle

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