Variant report

Variant	rs17814122
Chromosome Location	chr21:37713932-37713933
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:37703356..37705556-chr21:37712464..37714982,2	K562	blood:
2	chr21:37708181..37710932-chr21:37712464..37714935,2	K562	blood:
3	chr21:37689933..37695252-chr21:37713720..37716966,4	K562	blood:

Variant related genes	Relation type
ENSG00000273199	Chromatin interaction
ENSG00000159256	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1063308	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1906487	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56299925	1.00[ASN][1000 genomes]
rs61741099	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73202277	1.00[ASN][1000 genomes]
rs8127277	1.00[ASN][1000 genomes]
rs8127711	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8127746	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8128974	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8129103	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8129295	1.00[ASN][1000 genomes]
rs8130294	0.88[EUR][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	esv33578	chr21:37488312-37819627	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv913734	chr21:37617630-37718587	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	esv1796009	chr21:37708503-37763979	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:37694400-37718200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr21:37699400-37757600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr21:37701200-37750600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr21:37701600-37751400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr21:37701800-37727000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr21:37702600-37722000	Weak transcription	Right Atrium	heart
7	chr21:37703400-37732200	Weak transcription	Fetal Heart	heart
8	chr21:37704400-37725800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr21:37704800-37715000	Strong transcription	Primary T cells from cord blood	blood
10	chr21:37704800-37732400	Weak transcription	Psoas Muscle	Psoas
11	chr21:37704800-37751400	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr21:37705200-37724000	Strong transcription	Fetal Stomach	stomach
13	chr21:37705400-37725200	Strong transcription	Dnd41	blood
14	chr21:37705400-37748400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr21:37705400-37750600	Strong transcription	Duodenum Mucosa	Duodenum
16	chr21:37705600-37714600	Strong transcription	GM12878-XiMat	blood
17	chr21:37705600-37725400	Strong transcription	Fetal Thymus	thymus
18	chr21:37705600-37725800	Strong transcription	HUES48 Cell Line	embryonic stem cell
19	chr21:37705600-37750400	Strong transcription	Primary B cells from peripheral blood	blood
20	chr21:37705600-37750600	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr21:37705600-37751400	Strong transcription	Primary neutrophils fromperipheralblood	blood
22	chr21:37705800-37751200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr21:37705800-37751200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr21:37706000-37750600	Strong transcription	Primary T helper cells fromperipheralblood	blood
25	chr21:37706000-37750600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr21:37706000-37750600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr21:37706000-37750800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr21:37706200-37750400	Strong transcription	HUES6 Cell Line	embryonic stem cell
29	chr21:37706200-37750800	Strong transcription	Liver	Liver
30	chr21:37706400-37720000	Strong transcription	Brain Germinal Matrix	brain
31	chr21:37706400-37725400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
32	chr21:37706400-37728000	Strong transcription	Sigmoid Colon	Sigmoid Colon
33	chr21:37706400-37728200	Strong transcription	Fetal Muscle Leg	muscle
34	chr21:37706600-37714200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr21:37706600-37715200	Strong transcription	Primary B cells from cord blood	blood
36	chr21:37706800-37725400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr21:37707000-37725800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr21:37707400-37719400	Strong transcription	Primary T helper cells PMA-I stimulated	--
39	chr21:37708400-37715200	Strong transcription	Pancreas	Pancrea
40	chr21:37708400-37724800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
41	chr21:37708400-37725400	Strong transcription	Fetal Intestine Large	intestine
42	chr21:37708400-37725800	Strong transcription	Cortex derived primary cultured neurospheres	brain
43	chr21:37708600-37714400	Strong transcription	K562	blood
44	chr21:37708600-37719200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr21:37708600-37751400	Strong transcription	HUES64 Cell Line	embryonic stem cell
46	chr21:37708800-37725400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
47	chr21:37709000-37714000	Strong transcription	Primary T killer memory cells from peripheral blood	blood
48	chr21:37709000-37714000	Strong transcription	Fetal Kidney	kidney
49	chr21:37709000-37717200	Strong transcription	Fetal Lung	lung
50	chr21:37709000-37720200	Strong transcription	H1 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links