Variant report

Variant	rs11111984
Chromosome Location	chr12:104692814-104692815
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:20)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:20 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SP1	chr12:104692664-104695225	A549	lung:	n/a	n/a
2	POLR2A	chr12:104692660-104695196	HepG2	liver:	n/a	n/a
3	POLR2A	chr12:104692623-104693154	HUVEC	blood vessel:	n/a	n/a
4	POLR2A	chr12:104692636-104693358	IMR90	lung:	n/a	n/a
5	POLR2A	chr12:104692579-104696296	HepG2	liver:	n/a	n/a
6	POLR2A	chr12:104692501-104695176	HUVEC	blood vessel:	n/a	n/a
7	REST	chr12:104691351-104693307	A549	lung:	n/a	n/a
8	POLR2A	chr12:104684682-104705657	A549	lung:	n/a	n/a
9	POLR2A	chr12:104692703-104693115	Hela-S3	cervix:	n/a	n/a
10	TCF12	chr12:104692398-104695236	A549	lung:	n/a	chr12:104693776-104693784
11	POLR2A	chr12:104691265-104693444	Hela-S3	cervix:	n/a	n/a
12	SIN3AK20	chr12:104692627-104693121	A549	lung:	n/a	n/a
13	POLR2A	chr12:104692502-104695239	PANC-1	pancreas:	n/a	n/a
14	POLR2A	chr12:104692782-104692932	K562	blood:	n/a	n/a
15	POLR2A	chr12:104692629-104693249	K562	blood:	n/a	n/a
16	POLR2A	chr12:104692675-104693134	K562	blood:	n/a	n/a
17	POLR2A	chr12:104692693-104693286	K562	blood:	n/a	n/a
18	SIX5	chr12:104692627-104694642	A549	lung:	n/a	n/a
19	POLR2A	chr12:104692649-104695256	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr12:104692509-104695262	PANC-1	pancreas:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:104692670..104694537-chr12:104713011..104714682,2	K562	blood:
2	chr12:104691946..104693609-chr12:104702168..104704073,2	MCF-7	breast:

No data

Variant related genes	Relation type
EID3	TF binding region
ENSG00000198431	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10778321	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10861187	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10861190	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10861193	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10861195	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10861196	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10861197	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10861198	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10861199	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10861208	0.89[ASN][1000 genomes]
rs11111979	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11111980	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11111981	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11111987	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11111995	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11111996	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112006	0.92[ASN][1000 genomes]
rs11609469	0.89[ASN][1000 genomes]
rs12811618	0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17202060	0.98[ASN][1000 genomes]
rs17202520	0.92[ASN][1000 genomes]
rs4075411	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4595619	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4601859	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4964782	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4964783	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4964785	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5018287	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7132675	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7294778	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7298739	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7488680	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7977410	0.94[ASN][1000 genomes]
rs7977553	0.92[ASN][1000 genomes]
rs7978051	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899493	chr12:104548613-104703228	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv899494	chr12:104561521-104806232	Flanking Active TSS Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1046606	chr12:104606617-104763734	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv1038609	chr12:104613847-104764981	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv541587	chr12:104613847-104764981	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11111984	EID3	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104683400-104696800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr12:104683800-104693800	Weak transcription	Fetal Heart	heart
3	chr12:104683800-104696600	Weak transcription	Brain Anterior Caudate	brain
4	chr12:104683800-104696800	Weak transcription	Fetal Brain Male	brain
5	chr12:104683800-104697000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr12:104683800-104723800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr12:104684200-104693400	Strong transcription	Fetal Thymus	thymus
8	chr12:104684200-104696600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr12:104684400-104696600	Weak transcription	Right Atrium	heart
10	chr12:104684600-104694400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr12:104684600-104694800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
12	chr12:104684800-104693000	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr12:104684800-104693200	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr12:104685000-104695000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr12:104685800-104696800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr12:104686000-104694200	Strong transcription	HUES48 Cell Line	embryonic stem cell
17	chr12:104686000-104696800	Weak transcription	Brain Angular Gyrus	brain
18	chr12:104686200-104696800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr12:104686200-104700600	Strong transcription	Dnd41	blood
20	chr12:104686400-104697600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr12:104686800-104694200	Strong transcription	HUES6 Cell Line	embryonic stem cell
22	chr12:104686800-104694400	Strong transcription	HUES64 Cell Line	embryonic stem cell
23	chr12:104686800-104696600	Weak transcription	Fetal Intestine Small	intestine
24	chr12:104687200-104696800	Weak transcription	Psoas Muscle	Psoas
25	chr12:104687200-104700600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr12:104687400-104696600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr12:104687400-104696600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr12:104687400-104696600	Weak transcription	Stomach Smooth Muscle	stomach
29	chr12:104687400-104697000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr12:104687600-104697400	Weak transcription	Gastric	stomach
31	chr12:104688000-104694400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
32	chr12:104688000-104694400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
33	chr12:104688200-104693000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr12:104688200-104694200	Strong transcription	GM12878-XiMat	blood
35	chr12:104688400-104693600	Strong transcription	NH-A	brain
36	chr12:104688400-104695000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr12:104688400-104695400	Genic enhancers	HUVEC	blood vessel
38	chr12:104688600-104694400	Strong transcription	K562	blood
39	chr12:104688600-104695600	Enhancers	Stomach Mucosa	stomach
40	chr12:104689200-104694400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr12:104689400-104693600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr12:104689400-104696800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr12:104689400-104696800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr12:104689600-104696000	Weak transcription	Primary T helper cells PMA-I stimulated	--
45	chr12:104689600-104696800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr12:104689600-104696800	Weak transcription	Brain Hippocampus Middle	brain
47	chr12:104689600-104696800	Weak transcription	Fetal Stomach	stomach
48	chr12:104689600-104697400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr12:104690000-104693000	Strong transcription	Liver	Liver
50	chr12:104690000-104693800	Weak transcription	Sigmoid Colon	Sigmoid Colon

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