Variant report

Variant	rs6546799
Chromosome Location	chr2:73284053-73284054
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:73282639..73284806-chr2:73290205..73292291,2	K562	blood:
2	chr2:73282730..73284248-chr2:73287345..73289502,2	K562	blood:
3	chr2:73282143..73284248-chr2:73287345..73289978,3	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs56996879	0.87[AFR][1000 genomes]
rs57471178	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60292098	0.86[AFR][1000 genomes]
rs6709269	0.82[YRI][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6712130	0.87[AFR][1000 genomes]
rs6718781	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6748246	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6753198	0.95[YRI][hapmap]
rs72918398	0.80[AFR][1000 genomes]
rs72920414	0.87[AFR][1000 genomes]
rs72920416	0.85[AFR][1000 genomes]
rs72920429	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72920430	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72920431	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72920440	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72920444	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72920447	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7560421	0.89[AFR][1000 genomes]
rs7593530	0.91[YRI][hapmap]
rs7599245	0.95[YRI][hapmap];0.83[AFR][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	nsv1002295	chr2:73216155-73350391	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:73214200-73286400	Weak transcription	Psoas Muscle	Psoas
2	chr2:73249400-73284200	Weak transcription	Aorta	Aorta
3	chr2:73249400-73290000	Weak transcription	HUVEC	blood vessel
4	chr2:73249600-73290000	Weak transcription	NHLF	lung
5	chr2:73250200-73284200	Weak transcription	Ovary	ovary
6	chr2:73256800-73290000	Weak transcription	HSMM	muscle
7	chr2:73259200-73291200	Weak transcription	Small Intestine	intestine
8	chr2:73260200-73284200	Weak transcription	Duodenum Mucosa	Duodenum
9	chr2:73260600-73284400	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr2:73261400-73284200	Weak transcription	Gastric	stomach
11	chr2:73262800-73290600	Weak transcription	NHEK	skin
12	chr2:73264200-73290600	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr2:73264600-73284400	Weak transcription	Esophagus	oesophagus
14	chr2:73267800-73289400	Weak transcription	K562	blood
15	chr2:73268200-73284200	Weak transcription	Lung	lung
16	chr2:73268600-73289400	Weak transcription	Right Ventricle	heart
17	chr2:73272600-73291200	Weak transcription	Fetal Heart	heart
18	chr2:73275800-73297000	Weak transcription	Pancreas	Pancrea
19	chr2:73277800-73284200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr2:73277800-73284200	Weak transcription	Thymus	Thymus
21	chr2:73277800-73284400	Weak transcription	Spleen	Spleen
22	chr2:73277800-73285800	Weak transcription	Fetal Brain Male	brain
23	chr2:73277800-73290400	Weak transcription	HMEC	breast
24	chr2:73277800-73290800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr2:73277800-73291200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr2:73278800-73284200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr2:73279600-73284200	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr2:73281200-73284400	Weak transcription	Rectal Smooth Muscle	rectum
29	chr2:73281200-73289800	Weak transcription	NHDF-Ad	bronchial
30	chr2:73281400-73284600	Weak transcription	Colon Smooth Muscle	Colon
31	chr2:73281400-73284600	Weak transcription	NH-A	brain
32	chr2:73281600-73285200	Strong transcription	Stomach Smooth Muscle	stomach
33	chr2:73282400-73284200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr2:73282400-73284200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr2:73282400-73284200	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr2:73282600-73284400	Weak transcription	HSMMtube	muscle
37	chr2:73283000-73284600	Strong transcription	Primary B cells from cord blood	blood
38	chr2:73283000-73284600	ZNF genes & repeats	Fetal Stomach	stomach
39	chr2:73283000-73285200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr2:73283200-73284200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr2:73283200-73285800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
42	chr2:73283400-73284600	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
43	chr2:73283400-73285000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr2:73283400-73285000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
45	chr2:73283400-73285000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
46	chr2:73283400-73285200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr2:73283400-73285800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr2:73283400-73286000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr2:73283400-73286400	ZNF genes & repeats	Fetal Intestine Small	intestine
50	chr2:73283600-73284400	ZNF genes & repeats	Fetal Intestine Large	intestine

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