Variant report

Variant	rs73995950
Chromosome Location	chr2:234344034-234344035
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	POLR2A	chr2:234343829-234344091	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr2:234341455-234348135	A549	lung:	n/a	n/a

Variant related genes	Relation type
DGKD	TF binding region

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs4047262	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4281901	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4392254	1.00[AMR][1000 genomes]
rs4588184	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55888324	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56274731	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56306918	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56317380	1.00[AMR][1000 genomes]
rs57285092	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58330864	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58489211	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58583213	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58864422	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59543173	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59954119	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61376069	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6726032	1.00[AMR][1000 genomes]
rs6734355	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73995909	1.00[AMR][1000 genomes]
rs73995911	1.00[AMR][1000 genomes]
rs73995918	1.00[AMR][1000 genomes]
rs73995919	1.00[AMR][1000 genomes]
rs73995920	1.00[AMR][1000 genomes]
rs73995921	1.00[AMR][1000 genomes]
rs73995922	1.00[AMR][1000 genomes]
rs73995923	1.00[AMR][1000 genomes]
rs73995944	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73995945	0.98[AFR][1000 genomes]
rs73995946	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73995947	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73995948	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73995949	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73995970	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73995972	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73995973	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73995974	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73995980	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73996001	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73996105	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73996107	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73996118	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73996119	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73996120	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73996121	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73996124	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73996138	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73997606	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73997607	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73997608	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73997611	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73997612	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73997630	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73997631	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73997633	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73997637	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73997638	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs745154	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7580191	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7584192	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7593807	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv584700	chr2:234199401-234364426	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv529419	chr2:234229606-234670426	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
3	nsv1000870	chr2:234333083-234410768	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv876013	chr2:234338227-234579915	Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234322400-234371800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:234329000-234351600	Weak transcription	Fetal Brain Male	brain
3	chr2:234329200-234344600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr2:234329400-234344600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr2:234329400-234346000	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr2:234331200-234344600	Weak transcription	Esophagus	oesophagus
7	chr2:234331600-234344400	Weak transcription	Primary hematopoietic stem cells	blood
8	chr2:234333400-234344600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr2:234333400-234345600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr2:234335200-234357600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr2:234335600-234344800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr2:234335800-234344200	Weak transcription	Small Intestine	intestine
13	chr2:234338000-234358000	Weak transcription	NH-A	brain
14	chr2:234338400-234344200	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr2:234338400-234362800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr2:234338800-234360800	Weak transcription	HMEC	breast
17	chr2:234339200-234344400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr2:234339200-234344400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr2:234339200-234344400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr2:234339200-234344400	Weak transcription	Psoas Muscle	Psoas
21	chr2:234339200-234345600	Weak transcription	NHLF	lung
22	chr2:234339200-234346000	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr2:234339200-234360000	Weak transcription	K562	blood
24	chr2:234339600-234346000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr2:234339600-234354800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr2:234339600-234394200	Weak transcription	HUVEC	blood vessel
27	chr2:234339800-234347800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr2:234339800-234347800	Weak transcription	Osteobl	bone
29	chr2:234339800-234391400	Weak transcription	NHDF-Ad	bronchial
30	chr2:234340000-234344200	Weak transcription	Hela-S3	cervix
31	chr2:234340200-234344200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr2:234340400-234344600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr2:234340400-234344800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr2:234341200-234344200	Weak transcription	Brain Anterior Caudate	brain
35	chr2:234341400-234344200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr2:234341600-234357400	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr2:234341800-234354800	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr2:234342200-234344400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr2:234342400-234344400	Weak transcription	Brain Angular Gyrus	brain
40	chr2:234342600-234346000	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr2:234342800-234346000	Genic enhancers	Skeletal Muscle Female	skeletal muscle
42	chr2:234342800-234351600	Strong transcription	Primary T helper cells PMA-I stimulated	--
43	chr2:234342800-234354800	Weak transcription	Fetal Kidney	kidney
44	chr2:234342800-234358000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr2:234343000-234345400	Strong transcription	Primary T cells fromperipheralblood	blood
46	chr2:234343000-234346400	Strong transcription	Fetal Muscle Leg	muscle
47	chr2:234343000-234346800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr2:234343000-234346800	Strong transcription	Brain Substantia Nigra	brain
49	chr2:234343000-234347800	Strong transcription	Adipose Nuclei	Adipose
50	chr2:234343000-234349200	Weak transcription	H1 Cell Line	embryonic stem cell

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