Variant report

Variant	rs11804466
Chromosome Location	chr1:213128249-213128250
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:213127616..213130170-chr1:213132059..213134364,2	K562	blood:
2	chr1:213127202..213129591-chr1:213131577..213134286,2	K562	blood:
3	chr1:213123028..213126732-chr1:213127921..213134327,6	K562	blood:
4	chr1:213127494..213130464-chr1:213136589..213139155,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143494	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10746436	1.00[CHB][hapmap]
rs10779594	1.00[CHB][hapmap]
rs10864003	1.00[CHB][hapmap]
rs10864019	1.00[CHB][hapmap]
rs11807270	1.00[ASN][1000 genomes]
rs11808834	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11810592	1.00[CHB][hapmap];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]
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[ASN][1000 genomes]
rs60610968	1.00[ASN][1000 genomes]
rs6666362	1.00[CHB][hapmap]
rs6668523	1.00[AMR][1000 genomes]
rs6674933	1.00[CHB][hapmap]
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]
rs7530371	1.00[AMR][1000 genomes]
rs7533253	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7542653	1.00[AMR][1000 genomes]
rs7543365	1.00[AMR][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	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

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:213125200-213129400	Weak transcription	Thymus	Thymus
2	chr1:213125200-213132800	Weak transcription	Lung	lung
3	chr1:213125200-213134200	Weak transcription	Right Atrium	heart
4	chr1:213125600-213131000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:213125600-213131200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr1:213125600-213132600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:213125600-213141000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr1:213125800-213141000	Weak transcription	A549	lung
9	chr1:213125800-213145800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr1:213126000-213134000	Weak transcription	Fetal Intestine Small	intestine
11	chr1:213126200-213131200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr1:213126400-213129800	Genic enhancers	Fetal Muscle Trunk	muscle
13	chr1:213126400-213152400	Strong transcription	Fetal Stomach	stomach
14	chr1:213126600-213128600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr1:213126600-213129800	Genic enhancers	Fetal Muscle Leg	muscle
16	chr1:213126600-213140600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
17	chr1:213126800-213130400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr1:213126800-213154400	Strong transcription	Fetal Brain Female	brain
19	chr1:213127000-213128400	Strong transcription	H1 Cell Line	embryonic stem cell
20	chr1:213127000-213129000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr1:213127000-213129800	Genic enhancers	HUES6 Cell Line	embryonic stem cell
22	chr1:213127000-213130000	Genic enhancers	HSMMtube	muscle
23	chr1:213127000-213136400	Weak transcription	Fetal Brain Male	brain
24	chr1:213127000-213153200	Strong transcription	Fetal Lung	lung
25	chr1:213127200-213128400	Genic enhancers	HUES48 Cell Line	embryonic stem cell
26	chr1:213127200-213128600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr1:213127200-213129000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr1:213127200-213130400	Weak transcription	Fetal Kidney	kidney
29	chr1:213127200-213131000	Weak transcription	HSMM	muscle
30	chr1:213127200-213132600	Strong transcription	ES-I3 Cell Line	embryonic stem cell
31	chr1:213127400-213128600	Weak transcription	Fetal Thymus	thymus
32	chr1:213127400-213129200	Weak transcription	Brain Germinal Matrix	brain
33	chr1:213127400-213131000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr1:213127400-213140800	Strong transcription	HUES64 Cell Line	embryonic stem cell
35	chr1:213127600-213128600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr1:213127600-213129200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr1:213127600-213130400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
38	chr1:213127600-213131200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr1:213127800-213128400	Genic enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr1:213127800-213131200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr1:213128200-213129600	Genic enhancers	H9 Cell Line	embryonic stem cell
42	chr1:213128200-213130000	Flanking Active TSS	GM12878-XiMat	blood

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