Variant report

Variant	rs73381599
Chromosome Location	chr21:37723315-37723316
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:37691242..37693750-chr21:37723085..37724760,2	K562	blood:
2	chr21:37696577..37699463-chr21:37722211..37724078,2	K562	blood:

Variant related genes	Relation type
ENSG00000273199	Chromatin interaction
ENSG00000159256	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10483033	1.00[EUR][1000 genomes]
rs11909470	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11909757	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11910005	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11910447	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11911904	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16994069	1.00[EUR][1000 genomes]
rs28688747	1.00[EUR][1000 genomes]
rs57154050	1.00[EUR][1000 genomes]
rs59261999	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59270005	1.00[EUR][1000 genomes]
rs61094968	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73381587	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73381588	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73381601	1.00[EUR][1000 genomes]
rs73383707	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73383713	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73383714	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73383715	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73383719	0.91[AFR][1000 genomes]
rs73383722	1.00[EUR][1000 genomes]
rs73385706	1.00[EUR][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	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	chr21:37699400-37757600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr21:37701200-37750600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr21:37701600-37751400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr21:37701800-37727000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr21:37703400-37732200	Weak transcription	Fetal Heart	heart
6	chr21:37704400-37725800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr21:37704800-37732400	Weak transcription	Psoas Muscle	Psoas
8	chr21:37704800-37751400	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr21:37705200-37724000	Strong transcription	Fetal Stomach	stomach
10	chr21:37705400-37725200	Strong transcription	Dnd41	blood
11	chr21:37705400-37748400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr21:37705400-37750600	Strong transcription	Duodenum Mucosa	Duodenum
13	chr21:37705600-37725400	Strong transcription	Fetal Thymus	thymus
14	chr21:37705600-37725800	Strong transcription	HUES48 Cell Line	embryonic stem cell
15	chr21:37705600-37750400	Strong transcription	Primary B cells from peripheral blood	blood
16	chr21:37705600-37750600	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr21:37705600-37751400	Strong transcription	Primary neutrophils fromperipheralblood	blood
18	chr21:37705800-37751200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr21:37705800-37751200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr21:37706000-37750600	Strong transcription	Primary T helper cells fromperipheralblood	blood
21	chr21:37706000-37750600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr21:37706000-37750600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr21:37706000-37750800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr21:37706200-37750400	Strong transcription	HUES6 Cell Line	embryonic stem cell
25	chr21:37706200-37750800	Strong transcription	Liver	Liver
26	chr21:37706400-37725400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr21:37706400-37728000	Strong transcription	Sigmoid Colon	Sigmoid Colon
28	chr21:37706400-37728200	Strong transcription	Fetal Muscle Leg	muscle
29	chr21:37706800-37725400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr21:37707000-37725800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr21:37708400-37724800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
32	chr21:37708400-37725400	Strong transcription	Fetal Intestine Large	intestine
33	chr21:37708400-37725800	Strong transcription	Cortex derived primary cultured neurospheres	brain
34	chr21:37708600-37751400	Strong transcription	HUES64 Cell Line	embryonic stem cell
35	chr21:37708800-37725400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
36	chr21:37709000-37725200	Strong transcription	Stomach Smooth Muscle	stomach
37	chr21:37709000-37725400	Strong transcription	Rectal Mucosa Donor 31	rectum
38	chr21:37709000-37747400	Strong transcription	Rectal Mucosa Donor 29	rectum
39	chr21:37709200-37725400	Strong transcription	Fetal Brain Female	brain
40	chr21:37709200-37750600	Strong transcription	Primary T cells fromperipheralblood	blood
41	chr21:37709200-37750600	Strong transcription	Fetal Muscle Trunk	muscle
42	chr21:37709600-37748200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
43	chr21:37710000-37724000	Strong transcription	Fetal Intestine Small	intestine
44	chr21:37711400-37723800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr21:37711400-37725400	Strong transcription	Adipose Nuclei	Adipose
46	chr21:37711400-37757600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr21:37713000-37728000	Strong transcription	Thymus	Thymus
48	chr21:37713000-37750800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr21:37716000-37723800	Strong transcription	Rectal Smooth Muscle	rectum
50	chr21:37716000-37727400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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