Variant report

Variant	rs700547
Chromosome Location	chr2:169658231-169658232
allele	C/T
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	BHLHE40	chr2:169658125-169658462	K562	blood:	n/a	n/a
2	JUND	chr2:169658051-169658309	K562	blood:	n/a	chr2:169658084-169658096 chr2:169658085-169658095
3	NR2F2	chr2:169658066-169660165	K562	blood:	n/a	n/a
4	JUN	chr2:169657816-169661502	K562	blood:	n/a	chr2:169659930-169659939 chr2:169660049-169660058 chr2:169658084-169658096 chr2:169660017-169660029 chr2:169658085-169658095

Variant related genes	Relation type
NOSTRIN	TF binding region

Extended variants
information (count: 2 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs700548	1.00[CEU][hapmap];1.00[TSI][hapmap];0.87[AFR][1000 genomes];0.93[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	nsv915920	chr2:168851960-169696591	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:169652000-169659000	Weak transcription	Fetal Kidney	kidney
2	chr2:169652200-169658800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr2:169653000-169658400	Weak transcription	Fetal Stomach	stomach
4	chr2:169653000-169658800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr2:169653000-169658800	Weak transcription	Ovary	ovary
6	chr2:169653000-169659000	Weak transcription	Right Ventricle	heart
7	chr2:169653000-169659200	Enhancers	Fetal Intestine Small	intestine
8	chr2:169653800-169658400	Weak transcription	Placenta	Placenta
9	chr2:169655400-169658800	Weak transcription	Fetal Lung	lung
10	chr2:169655600-169658400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr2:169655600-169658600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr2:169655600-169658600	Enhancers	K562	blood
13	chr2:169655800-169658400	Weak transcription	Adipose Nuclei	Adipose
14	chr2:169655800-169658600	Weak transcription	HUVEC	blood vessel
15	chr2:169656000-169658400	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr2:169656000-169658400	Weak transcription	Small Intestine	intestine
17	chr2:169656000-169666800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr2:169656200-169658400	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr2:169656200-169658600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr2:169656200-169658800	Weak transcription	Fetal Muscle Leg	muscle
21	chr2:169656200-169658800	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr2:169656200-169659000	Weak transcription	Spleen	Spleen
23	chr2:169656400-169658600	Weak transcription	Right Atrium	heart
24	chr2:169656600-169658400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr2:169656600-169658400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr2:169656600-169659000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr2:169656600-169659400	Weak transcription	Gastric	stomach
28	chr2:169656800-169658600	Weak transcription	Pancreas	Pancrea
29	chr2:169656800-169658800	Weak transcription	Left Ventricle	heart
30	chr2:169657800-169658600	Enhancers	Rectal Mucosa Donor 29	rectum
31	chr2:169657800-169658600	Enhancers	Rectal Mucosa Donor 31	rectum
32	chr2:169657800-169659200	Enhancers	Fetal Intestine Large	intestine
33	chr2:169658000-169658800	Enhancers	Lung	lung
34	chr2:169658000-169658800	Enhancers	Sigmoid Colon	Sigmoid Colon
35	chr2:169658000-169658800	Enhancers	Hela-S3	cervix
36	chr2:169658000-169659000	Enhancers	Colonic Mucosa	Colon
37	chr2:169658200-169658400	Enhancers	Duodenum Mucosa	Duodenum
38	chr2:169658200-169658400	Flanking Active TSS	Stomach Mucosa	stomach
39	chr2:169658200-169659000	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr2:169658200-169659000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr2:169658200-169659200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr2:169658200-169659200	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr2:169658200-169659200	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr2:169658200-169659200	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr2:169658200-169659200	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr2:169658200-169659200	Enhancers	Fetal Heart	heart
47	chr2:169658200-169659400	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr2:169658200-169659800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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