Variant report

Variant	rs11839654
Chromosome Location	chr13:30777605-30777606
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:30774269..30777021-chr13:30777497..30779135,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HMGB1-4	chr13:30776775-30778553	NONHSAT032769

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs56310320	1.00[EUR][1000 genomes]
rs61218246	1.00[EUR][1000 genomes]
rs73443628	1.00[EUR][1000 genomes]
rs73443656	1.00[EUR][1000 genomes]
rs73443658	1.00[EUR][1000 genomes]
rs73445867	1.00[EUR][1000 genomes]
rs73445892	1.00[EUR][1000 genomes]
rs74043098	1.00[EUR][1000 genomes]
rs74046004	1.00[EUR][1000 genomes]
rs74046005	1.00[EUR][1000 genomes]
rs74046008	1.00[EUR][1000 genomes]
rs74046013	1.00[EUR][1000 genomes]
rs846485	1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832572	chr13:30650005-30835256	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30754000-30798800	Weak transcription	Brain Anterior Caudate	brain
2	chr13:30760800-30781800	Weak transcription	Stomach Smooth Muscle	stomach
3	chr13:30761600-30792800	Weak transcription	Fetal Brain Male	brain
4	chr13:30763400-30781600	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr13:30763600-30786400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr13:30763800-30778800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr13:30764600-30790200	Weak transcription	Colon Smooth Muscle	Colon
8	chr13:30765600-30807000	Weak transcription	Gastric	stomach
9	chr13:30766000-30781800	Weak transcription	NH-A	brain
10	chr13:30766000-30783400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr13:30766200-30778800	Weak transcription	Osteobl	bone
12	chr13:30766200-30779400	Weak transcription	NHLF	lung
13	chr13:30766200-30790400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr13:30766400-30804400	Weak transcription	Duodenum Mucosa	Duodenum
15	chr13:30767600-30778600	Weak transcription	Fetal Intestine Small	intestine
16	chr13:30768000-30795000	Weak transcription	Brain Germinal Matrix	brain
17	chr13:30768200-30781600	Weak transcription	Fetal Muscle Leg	muscle
18	chr13:30768600-30792600	Weak transcription	Spleen	Spleen
19	chr13:30768600-30798800	Weak transcription	HMEC	breast
20	chr13:30769000-30796400	Weak transcription	A549	lung
21	chr13:30769800-30781400	Weak transcription	HUVEC	blood vessel
22	chr13:30769800-30790400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr13:30770000-30778600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr13:30770000-30790400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr13:30770000-30790400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr13:30770000-30799200	Weak transcription	HSMMtube	muscle
27	chr13:30770400-30781400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr13:30770400-30784400	Weak transcription	Psoas Muscle	Psoas
29	chr13:30770400-30786400	Weak transcription	Fetal Brain Female	brain
30	chr13:30770400-30790400	Weak transcription	Fetal Muscle Trunk	muscle
31	chr13:30770600-30778800	Weak transcription	HSMM	muscle
32	chr13:30770600-30779400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr13:30770600-30781400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr13:30770600-30782000	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr13:30770600-30786000	Weak transcription	Fetal Stomach	stomach
36	chr13:30770600-30786400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr13:30770600-30790400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr13:30770600-30796200	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr13:30770600-30803200	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr13:30770800-30781400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr13:30771000-30779600	Weak transcription	Ovary	ovary
42	chr13:30771000-30781000	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr13:30771000-30782000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr13:30771200-30790200	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr13:30771200-30790400	Weak transcription	Right Ventricle	heart
46	chr13:30771800-30794800	Weak transcription	Primary hematopoietic stem cells	blood
47	chr13:30772400-30796400	Weak transcription	NHEK	skin
48	chr13:30772600-30778400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr13:30773000-30779000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr13:30773000-30782600	Weak transcription	Primary B cells from peripheral blood	blood

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