Variant report

Variant	rs2236575
Chromosome Location	chr10:99225738-99225739
allele	A/T
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	chr10:99225720-99225993	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr10:99225681-99225783	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr10:99225557-99225931	K562	blood:	n/a	n/a
4	POLR2A	chr10:99225246-99226767	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr10:99225733-99225984	GM12878	blood:	n/a	n/a
6	POLR2A	chr10:99225467-99226593	K562	blood:	n/a	n/a
7	POLR2A	chr10:99225640-99225974	GM12878	blood:	n/a	n/a
8	POLR2A	chr10:99225409-99225903	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:99222401..99225311-chr10:99225658..99227464,2	K562	blood:

Variant related genes	Relation type
MMS19	TF binding region
ENSG00000155229	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10786349	0.96[CEU][hapmap];0.95[CHB][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10882938	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10882941	0.96[CEU][hapmap];0.95[CHB][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10882942	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11189240	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11189245	0.86[CHB][hapmap];0.83[JPT][hapmap]
rs12412017	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2007349	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2152092	0.96[CEU][hapmap];0.95[CHB][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2211243	0.88[ASN][1000 genomes]
rs3740526	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3750558	0.84[ASN][1000 genomes]
rs3818909	0.96[CEU][hapmap];0.86[CHB][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4917773	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7068965	1.00[CHB][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs7093946	0.96[CEU][hapmap];0.95[CHB][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7096611	0.86[CHB][hapmap];0.89[JPT][hapmap]
rs7897727	0.93[CEU][hapmap];0.87[CHB][hapmap];0.86[EUR][1000 genomes]
rs7923541	0.81[CHB][hapmap]
rs7923913	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1817777	chr10:99196035-99558169	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 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	chr10:99206800-99234200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr10:99208000-99227000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr10:99210000-99228800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
4	chr10:99210000-99243800	Strong transcription	Primary T cells from cord blood	blood
5	chr10:99210000-99243800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
6	chr10:99210000-99244000	Strong transcription	Fetal Stomach	stomach
7	chr10:99210000-99244200	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr10:99210200-99229200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr10:99210200-99243800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr10:99210400-99243600	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr10:99210400-99244800	Strong transcription	Fetal Thymus	thymus
12	chr10:99210600-99230800	Strong transcription	Fetal Brain Female	brain
13	chr10:99210600-99231600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr10:99210600-99234600	Strong transcription	Rectal Mucosa Donor 29	rectum
15	chr10:99210600-99238800	Strong transcription	HUES6 Cell Line	embryonic stem cell
16	chr10:99210600-99239000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr10:99210600-99241800	Strong transcription	Thymus	Thymus
18	chr10:99210600-99243800	Strong transcription	Duodenum Mucosa	Duodenum
19	chr10:99210600-99244200	Strong transcription	Placenta	Placenta
20	chr10:99210800-99230800	Strong transcription	GM12878-XiMat	blood
21	chr10:99210800-99239000	Strong transcription	HUES64 Cell Line	embryonic stem cell
22	chr10:99210800-99243800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr10:99210800-99244000	Strong transcription	Sigmoid Colon	Sigmoid Colon
24	chr10:99210800-99246000	Strong transcription	Primary B cells from peripheral blood	blood
25	chr10:99211000-99230600	Strong transcription	Brain Germinal Matrix	brain
26	chr10:99211000-99231000	Strong transcription	H9 Cell Line	embryonic stem cell
27	chr10:99211000-99238800	Strong transcription	HUES48 Cell Line	embryonic stem cell
28	chr10:99211000-99243800	Strong transcription	Primary T helper cells fromperipheralblood	blood
29	chr10:99211000-99246400	Strong transcription	Dnd41	blood
30	chr10:99211200-99230800	Strong transcription	Brain Angular Gyrus	brain
31	chr10:99211200-99230800	Strong transcription	Brain Cingulate Gyrus	brain
32	chr10:99211200-99244800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr10:99211200-99246200	Strong transcription	Primary T cells fromperipheralblood	blood
34	chr10:99211200-99246600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr10:99211400-99230800	Strong transcription	Primary B cells from cord blood	blood
36	chr10:99211400-99239000	Strong transcription	H1 Cell Line	embryonic stem cell
37	chr10:99211400-99241600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr10:99211600-99230600	Strong transcription	Spleen	Spleen
39	chr10:99211600-99239000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
40	chr10:99211800-99230800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
41	chr10:99211800-99241200	Strong transcription	Rectal Mucosa Donor 31	rectum
42	chr10:99212000-99230800	Strong transcription	Rectal Smooth Muscle	rectum
43	chr10:99212400-99226400	Strong transcription	HUVEC	blood vessel
44	chr10:99214000-99235600	Strong transcription	Brain Inferior Temporal Lobe	brain
45	chr10:99214200-99234400	Strong transcription	Lung	lung
46	chr10:99214400-99242000	Strong transcription	Fetal Muscle Trunk	muscle
47	chr10:99214400-99246400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr10:99214600-99242800	Strong transcription	Fetal Muscle Leg	muscle
49	chr10:99214600-99243800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr10:99214600-99243800	Strong transcription	Stomach Smooth Muscle	stomach

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