Variant report

Variant	rs73995949
Chromosome Location	chr2:234335335-234335336
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:234313157..234314685-chr2:234334796..234337300,2	K562	blood:
2	chr2:234333282..234336244-chr2:234336565..234338970,2	K562	blood:
3	chr2:234329686..234332891-chr2:234335011..234337896,4	MCF-7	breast:
4	chr2:234333615..234335569-chr2:234339010..234340778,2	K562	blood:
5	chr2:234330775..234332470-chr2:234335066..234337400,2	K562	blood:
6	chr2:234335325..234337251-chr2:234341228..234343358,2	K562	blood:

Variant related genes	Relation type
ENSG00000077044	Chromatin interaction

Extended variants
information (count: 63 )
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]
rs73995950	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:3 , 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

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234322400-234371800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:234323200-234336600	Weak transcription	Brain Substantia Nigra	brain
3	chr2:234324400-234338400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr2:234328800-234337000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:234328800-234343000	Weak transcription	Liver	Liver
6	chr2:234329000-234339200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr2:234329000-234343600	Weak transcription	Fetal Brain Female	brain
8	chr2:234329000-234351600	Weak transcription	Fetal Brain Male	brain
9	chr2:234329200-234343800	Weak transcription	Brain Germinal Matrix	brain
10	chr2:234329200-234344600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr2:234329400-234343200	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr2:234329400-234343400	Weak transcription	Brain Hippocampus Middle	brain
13	chr2:234329400-234344600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr2:234329400-234346000	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr2:234330800-234335400	Weak transcription	Small Intestine	intestine
16	chr2:234330800-234336800	Weak transcription	Ovary	ovary
17	chr2:234330800-234337800	Strong transcription	Primary neutrophils fromperipheralblood	blood
18	chr2:234330800-234343200	Weak transcription	Rectal Smooth Muscle	rectum
19	chr2:234331000-234338000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr2:234331000-234344000	Weak transcription	Stomach Smooth Muscle	stomach
21	chr2:234331200-234338200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr2:234331200-234340400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
23	chr2:234331200-234343400	Weak transcription	Thymus	Thymus
24	chr2:234331200-234344000	Weak transcription	Dnd41	blood
25	chr2:234331200-234344600	Weak transcription	Esophagus	oesophagus
26	chr2:234331400-234336000	Enhancers	Primary T helper naive cells from peripheral blood	blood
27	chr2:234331600-234338000	Weak transcription	Fetal Thymus	thymus
28	chr2:234331600-234338200	Weak transcription	Adipose Nuclei	Adipose
29	chr2:234331600-234344400	Weak transcription	Primary hematopoietic stem cells	blood
30	chr2:234332200-234338000	Weak transcription	Pancreas	Pancrea
31	chr2:234332600-234339800	Enhancers	Primary T helper cells PMA-I stimulated	--
32	chr2:234332800-234335800	ZNF genes & repeats	GM12878-XiMat	blood
33	chr2:234333000-234335400	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
34	chr2:234333200-234343200	Weak transcription	HepG2	liver
35	chr2:234333200-234344000	Weak transcription	Brain Cingulate Gyrus	brain
36	chr2:234333400-234343000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr2:234333400-234343000	Weak transcription	Colonic Mucosa	Colon
38	chr2:234333400-234343000	Weak transcription	Spleen	Spleen
39	chr2:234333400-234344600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr2:234333400-234345600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr2:234333600-234335800	Weak transcription	Right Atrium	heart
42	chr2:234333600-234336400	Weak transcription	Fetal Muscle Trunk	muscle
43	chr2:234333600-234336400	Weak transcription	Fetal Stomach	stomach
44	chr2:234333600-234336800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr2:234333600-234336800	Enhancers	Right Ventricle	heart
46	chr2:234333600-234336800	Enhancers	Skeletal Muscle Male	skeletal muscle
47	chr2:234333600-234338600	Weak transcription	NHLF	lung
48	chr2:234333600-234339200	Enhancers	Stomach Mucosa	stomach
49	chr2:234333600-234343000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr2:234333600-234343200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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