Variant report

Variant	rs2835343
Chromosome Location	chr21:37799824-37799825
allele	C/G
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	chr21:37799493-37799825	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:37797860..37800286-chr21:37973474..37976401,2	MCF-7	breast:
2	chr21:37797952..37800219-chr21:37807926..37809678,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000230479	TF binding region

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs16994103	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2101437	1.00[CEU][hapmap];1.00[GIH][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs219767	1.00[ASN][1000 genomes]
rs219768	1.00[ASN][1000 genomes]
rs219769	1.00[ASN][1000 genomes]
rs219770	1.00[ASN][1000 genomes]
rs219771	1.00[ASN][1000 genomes]
rs219772	1.00[ASN][1000 genomes]
rs219773	1.00[ASN][1000 genomes]
rs219774	1.00[ASN][1000 genomes]
rs219775	1.00[ASN][1000 genomes]
rs219776	1.00[ASN][1000 genomes]
rs219777	1.00[ASN][1000 genomes]
rs219778	1.00[ASN][1000 genomes]
rs219779	1.00[ASN][1000 genomes]
rs219781	1.00[ASN][1000 genomes]
rs219782	1.00[ASN][1000 genomes]
rs219783	1.00[ASN][1000 genomes]
rs219784	1.00[ASN][1000 genomes]
rs219787	1.00[ASN][1000 genomes]
rs2835363	1.00[ASN][1000 genomes]
rs35692359	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55801805	1.00[ASN][1000 genomes]
rs73902527	1.00[ASN][1000 genomes]

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	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	nsv1064194	chr21:37782214-37819820	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:37775600-37802200	Weak transcription	Primary T helper cells PMA-I stimulated	--
2	chr21:37786000-37801000	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr21:37786400-37801200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr21:37786400-37801200	Weak transcription	NHEK	skin
5	chr21:37786800-37801000	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr21:37787200-37803200	Weak transcription	Esophagus	oesophagus
7	chr21:37788800-37801800	Weak transcription	GM12878-XiMat	blood
8	chr21:37788800-37802000	Weak transcription	Gastric	stomach
9	chr21:37789000-37801200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr21:37789000-37801200	Weak transcription	Adipose Nuclei	Adipose
11	chr21:37789000-37802200	Weak transcription	Primary T cells from cord blood	blood
12	chr21:37789200-37801000	Weak transcription	HMEC	breast
13	chr21:37789400-37801000	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr21:37790200-37802600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr21:37790800-37802000	Weak transcription	Fetal Intestine Small	intestine
16	chr21:37790800-37806600	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr21:37792800-37800800	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr21:37792800-37801000	Weak transcription	Spleen	Spleen
19	chr21:37793000-37800800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr21:37793200-37802200	Weak transcription	Thymus	Thymus
21	chr21:37794800-37802200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr21:37795000-37801600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr21:37795000-37802200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr21:37795200-37801200	Weak transcription	Placenta	Placenta
25	chr21:37795200-37801200	Weak transcription	Lung	lung
26	chr21:37795200-37802000	Weak transcription	Right Atrium	heart
27	chr21:37795200-37802200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr21:37795400-37801200	Weak transcription	Right Ventricle	heart
29	chr21:37795400-37802200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr21:37795800-37801000	Weak transcription	K562	blood
31	chr21:37796600-37801000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr21:37796600-37801600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr21:37796800-37800800	Weak transcription	Primary hematopoietic stem cells	blood
34	chr21:37796800-37800800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr21:37796800-37800800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr21:37797800-37800800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr21:37798000-37801000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr21:37798000-37801000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr21:37798000-37801000	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr21:37798000-37801000	Weak transcription	NH-A	brain
41	chr21:37798000-37801200	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr21:37798000-37802400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr21:37798200-37800800	Weak transcription	Fetal Muscle Trunk	muscle
44	chr21:37798200-37801000	Weak transcription	Fetal Thymus	thymus
45	chr21:37798200-37801200	Weak transcription	Fetal Muscle Leg	muscle
46	chr21:37798200-37801200	Weak transcription	Osteobl	bone
47	chr21:37798400-37801600	Weak transcription	HSMM	muscle
48	chr21:37798600-37801000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr21:37798600-37801000	Weak transcription	A549	lung
50	chr21:37798600-37801000	Weak transcription	HSMMtube	muscle

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