Variant report

Variant	rs16831652
Chromosome Location	chr2:190431001-190431002
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:190424147..190427932-chr2:190428978..190433809,5	K562	blood:
2	chr2:190429867..190433409-chr2:190445353..190447436,5	K562	blood:
3	chr2:190430886..190434055-chr2:190440352..190443388,4	K562	blood:

Variant related genes	Relation type
ENSG00000138449	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11894276	1.00[EUR][1000 genomes]
rs11901582	0.89[CHB][hapmap]
rs12693543	0.90[CHB][hapmap]
rs12693545	0.90[CHB][hapmap]
rs13404407	1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17271204	0.88[CHB][hapmap]
rs28365783	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3792079	1.00[EUR][1000 genomes]
rs6434349	1.00[CHB][hapmap]
rs73047757	1.00[EUR][1000 genomes]
rs73980234	1.00[EUR][1000 genomes]
rs7604627	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533029	chr2:189812229-190554339	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv875615	chr2:190215527-190444392	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 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	chr2:190417400-190433600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr2:190421000-190431400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:190424600-190432800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
4	chr2:190424600-190433600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr2:190424800-190431600	Weak transcription	Psoas Muscle	Psoas
6	chr2:190424800-190433600	Weak transcription	Brain Anterior Caudate	brain
7	chr2:190424800-190435600	Weak transcription	Esophagus	oesophagus
8	chr2:190424800-190441800	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr2:190424800-190444400	Weak transcription	Brain Substantia Nigra	brain
10	chr2:190425000-190431800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr2:190425000-190433600	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr2:190425000-190433800	Weak transcription	Brain Cingulate Gyrus	brain
13	chr2:190425000-190435400	Weak transcription	Right Atrium	heart
14	chr2:190425200-190433600	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr2:190425200-190433800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr2:190425400-190431800	Strong transcription	Primary neutrophils fromperipheralblood	blood
17	chr2:190426600-190431400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr2:190426600-190444200	Weak transcription	Brain Angular Gyrus	brain
19	chr2:190426800-190432600	Strong transcription	Rectal Mucosa Donor 31	rectum
20	chr2:190427000-190433200	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr2:190427400-190431600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr2:190427800-190432600	Strong transcription	Fetal Muscle Trunk	muscle
23	chr2:190428000-190432000	Strong transcription	Fetal Muscle Leg	muscle
24	chr2:190428000-190432600	Strong transcription	K562	blood
25	chr2:190428200-190431200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr2:190428200-190431600	Strong transcription	Stomach Smooth Muscle	stomach
27	chr2:190428200-190432000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
28	chr2:190428200-190432000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr2:190428200-190432400	Strong transcription	Rectal Mucosa Donor 29	rectum
30	chr2:190428200-190432600	Strong transcription	Pancreas	Pancrea
31	chr2:190428200-190434600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr2:190428400-190431800	Strong transcription	Primary T helper cells PMA-I stimulated	--
33	chr2:190428400-190432000	Strong transcription	Primary T cells from cord blood	blood
34	chr2:190428400-190432000	Strong transcription	Fetal Thymus	thymus
35	chr2:190428400-190432000	Genic enhancers	Spleen	Spleen
36	chr2:190428400-190432600	Strong transcription	Primary hematopoietic stem cells	blood
37	chr2:190428400-190432600	Strong transcription	A549	lung
38	chr2:190428400-190443800	Weak transcription	Brain Germinal Matrix	brain
39	chr2:190429000-190431400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr2:190429000-190431400	Strong transcription	Duodenum Smooth Muscle	Duodenum
41	chr2:190429000-190431800	Strong transcription	Duodenum Mucosa	Duodenum
42	chr2:190429000-190432600	Genic enhancers	Ovary	ovary
43	chr2:190429000-190433800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr2:190429000-190433800	Weak transcription	HSMM	muscle
45	chr2:190429000-190433800	Weak transcription	HUVEC	blood vessel
46	chr2:190429000-190434000	Strong transcription	Fetal Intestine Large	intestine
47	chr2:190429000-190435200	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr2:190429000-190438000	Genic enhancers	Liver	Liver
49	chr2:190429000-190438200	Strong transcription	Dnd41	blood
50	chr2:190429000-190439600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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