Variant report

Variant	rs11810592
Chromosome Location	chr1:213137823-213137824
allele	C/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	chr1:213137199-213138248	GM12878	blood:	n/a	n/a
2	POLR2A	chr1:213137379-213138228	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr1:213137814-213137975	H1-hESC	embryonic stem cell:	n/a	n/a
4	JUN	chr1:213137628-213137828	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr1:213135090-213138279	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr1:213137374-213138241	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:213127494..213130464-chr1:213136589..213139155,2	MCF-7	breast:

Variant related genes	Relation type
VASH2	TF binding region

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10746436	1.00[CHB][hapmap]
rs10779594	1.00[CHB][hapmap]
rs10864003	1.00[CHB][hapmap]
rs10864019	1.00[CHB][hapmap]
rs11802593	0.83[MKK][hapmap];0.85[YRI][hapmap]
rs11804466	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11807270	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11808834	1.00[CHB][hapmap];0.89[MKK][hapmap];0.85[YRI][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1615680	1.00[CHB][hapmap]
rs17020044	1.00[CHB][hapmap]
rs17020046	1.00[CHB][hapmap]
rs1770777	1.00[CHB][hapmap]
rs2359321	1.00[CHB][hapmap]
rs2644545	1.00[CHB][hapmap]
rs2792560	1.00[CHB][hapmap]
rs2792561	1.00[CHB][hapmap]
rs2841438	1.00[ASN][1000 genomes]
rs41300967	1.00[AMR][1000 genomes]
rs4951649	1.00[CHB][hapmap]
rs55675185	1.00[ASN][1000 genomes]
rs56004152	1.00[ASN][1000 genomes]
rs57768681	1.00[ASN][1000 genomes]
rs58153233	1.00[ASN][1000 genomes]
rs58318035	1.00[ASN][1000 genomes]
rs59454401	1.00[ASN][1000 genomes]
rs59560971	1.00[ASN][1000 genomes]
rs59694884	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60610968	1.00[ASN][1000 genomes]
rs6666362	1.00[CHB][hapmap]
rs6674933	1.00[CHB][hapmap]
rs6680002	1.00[AMR][1000 genomes]
rs6684088	1.00[ASN][1000 genomes]
rs6699046	1.00[ASN][1000 genomes]
rs74140524	1.00[ASN][1000 genomes]
rs7518378	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7528119	1.00[CHB][hapmap]
rs7533253	1.00[CHB][hapmap];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	nsv1008594	chr1:213110654-213236750	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	esv11434	chr1:213131581-213156027	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:213125600-213141000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:213125800-213141000	Weak transcription	A549	lung
3	chr1:213125800-213145800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr1:213126400-213152400	Strong transcription	Fetal Stomach	stomach
5	chr1:213126600-213140600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
6	chr1:213126800-213154400	Strong transcription	Fetal Brain Female	brain
7	chr1:213127000-213153200	Strong transcription	Fetal Lung	lung
8	chr1:213127400-213140800	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr1:213128400-213140800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
10	chr1:213129000-213141600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
11	chr1:213129600-213139800	Strong transcription	H9 Cell Line	embryonic stem cell
12	chr1:213130000-213153800	Weak transcription	Thymus	Thymus
13	chr1:213131200-213138000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr1:213131400-213139600	Weak transcription	Fetal Kidney	kidney
15	chr1:213131400-213153000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:213131600-213138600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr1:213131600-213139200	Strong transcription	HUES48 Cell Line	embryonic stem cell
18	chr1:213131600-213141000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr1:213131800-213139000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr1:213131800-213139200	Strong transcription	H1 Cell Line	embryonic stem cell
21	chr1:213131800-213140000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
22	chr1:213132000-213139200	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr1:213132000-213140400	Weak transcription	Fetal Thymus	thymus
24	chr1:213132000-213141400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr1:213132400-213140800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr1:213133000-213139000	Strong transcription	ES-I3 Cell Line	embryonic stem cell
27	chr1:213133000-213140600	Strong transcription	HSMMtube	muscle
28	chr1:213133000-213146200	Weak transcription	Esophagus	oesophagus
29	chr1:213133200-213153400	Weak transcription	Lung	lung
30	chr1:213133400-213139200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr1:213133400-213153800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr1:213133600-213161600	Weak transcription	Fetal Intestine Large	intestine
33	chr1:213133800-213138200	Genic enhancers	GM12878-XiMat	blood
34	chr1:213134600-213152200	Weak transcription	Right Atrium	heart
35	chr1:213135000-213144800	Weak transcription	Fetal Intestine Small	intestine
36	chr1:213135600-213141400	Genic enhancers	Fetal Muscle Leg	muscle
37	chr1:213135800-213138200	Strong transcription	HSMM	muscle
38	chr1:213136400-213138200	Genic enhancers	Fetal Brain Male	brain
39	chr1:213136600-213141600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr1:213136800-213142200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr1:213137000-213141400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr1:213137800-213138600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr1:213137800-213139600	Genic enhancers	HUES6 Cell Line	embryonic stem cell
44	chr1:213137800-213141000	Strong transcription	Fetal Muscle Trunk	muscle
45	chr1:213137800-213154200	Strong transcription	Brain Germinal Matrix	brain

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