Variant report

Variant	rs2835342
Chromosome Location	chr21:37786677-37786678
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:37720460..37722115-chr21:37785874..37787544,2	K562	blood:
2	chr21:37785975..37787768-chr21:37790621..37793122,2	MCF-7	breast:
3	chr21:37778485..37781946-chr21:37785788..37788759,4	K562	blood:
4	chr21:37786003..37787816-chr21:37790318..37792408,2	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11088346	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.99[EUR][1000 genomes]
rs1906484	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs219784	1.00[CHD][hapmap]
rs2244034	1.00[CHD][hapmap]
rs57452600	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs73902504	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs73902505	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs73902506	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs73905811	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8596	1.00[CHD][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	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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2835342	SIRPG	trans	lymphoblastoid	seeQTL
rs2835342	GRAP2	trans	lymphoblastoid	seeQTL

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:37758400-37788000	Weak transcription	Colonic Mucosa	Colon
2	chr21:37758400-37792200	Weak transcription	Fetal Kidney	kidney
3	chr21:37758400-37793400	Weak transcription	Aorta	Aorta
4	chr21:37758400-37794600	Weak transcription	Left Ventricle	heart
5	chr21:37758400-37794800	Weak transcription	Right Ventricle	heart
6	chr21:37758600-37787400	Weak transcription	Primary B cells from cord blood	blood
7	chr21:37758600-37790600	Weak transcription	Brain Anterior Caudate	brain
8	chr21:37758600-37790800	Weak transcription	Primary B cells from peripheral blood	blood
9	chr21:37758600-37791000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr21:37758600-37793400	Weak transcription	Duodenum Mucosa	Duodenum
11	chr21:37758600-37794200	Weak transcription	Liver	Liver
12	chr21:37758600-37797600	Weak transcription	HSMM	muscle
13	chr21:37758800-37795000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr21:37761600-37790600	Weak transcription	Brain Cingulate Gyrus	brain
15	chr21:37761600-37792200	Weak transcription	Brain Angular Gyrus	brain
16	chr21:37761600-37792400	Weak transcription	Brain Hippocampus Middle	brain
17	chr21:37762800-37790200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr21:37766000-37793000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr21:37766800-37794800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr21:37768400-37794000	Weak transcription	Psoas Muscle	Psoas
21	chr21:37769400-37790000	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr21:37770000-37794200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr21:37773200-37792200	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr21:37774600-37792400	Weak transcription	Fetal Brain Male	brain
25	chr21:37775400-37788200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr21:37775600-37794800	Weak transcription	Right Atrium	heart
27	chr21:37775600-37802200	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr21:37776200-37794200	Weak transcription	NH-A	brain
29	chr21:37776200-37797400	Weak transcription	HSMMtube	muscle
30	chr21:37776400-37788600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr21:37776400-37795000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr21:37777800-37792000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
33	chr21:37777800-37792800	Strong transcription	Dnd41	blood
34	chr21:37780200-37787400	Strong transcription	HUES6 Cell Line	embryonic stem cell
35	chr21:37780400-37791000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr21:37780600-37791600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr21:37780800-37791200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr21:37781000-37788400	Weak transcription	HUVEC	blood vessel
39	chr21:37781400-37792400	Weak transcription	Placenta	Placenta
40	chr21:37782600-37790800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr21:37783000-37789000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr21:37783000-37789000	Strong transcription	Fetal Intestine Small	intestine
43	chr21:37783000-37790800	Strong transcription	HUES64 Cell Line	embryonic stem cell
44	chr21:37783000-37790800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
45	chr21:37783000-37790800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr21:37783200-37787600	Strong transcription	Hela-S3	cervix
47	chr21:37783400-37786800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr21:37783400-37786800	Strong transcription	Cortex derived primary cultured neurospheres	brain
49	chr21:37783400-37788200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr21:37783400-37789000	Strong transcription	Fetal Stomach	stomach

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