Variant report

Variant	rs7298739
Chromosome Location	chr12:104690218-104690219
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:104571599..104574180-chr12:104689003..104690549,2	MCF-7	breast:
2	chr12:104528933..104532757-chr12:104688299..104690796,3	MCF-7	breast:
3	chr12:104688661..104692008-chr12:104701962..104705113,4	MCF-7	breast:
4	chr12:104689111..104691925-chr12:104705420..104707657,2	MCF-7	breast:
5	chr12:104614582..104616135-chr12:104689398..104692216,2	MCF-7	breast:
6	chr12:104679689..104685346-chr12:104688497..104691899,10	MCF-7	breast:
7	chr12:104599765..104602072-chr12:104689282..104691994,2	MCF-7	breast:
8	chr12:104688038..104691573-chr12:104694221..104698678,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000120837	Chromatin interaction
ENSG00000198431	Chromatin interaction
ENSG00000255150	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	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10861187	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10861190	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10861193	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10861195	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10861196	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10861197	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10861198	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10861199	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10861208	0.89[ASN][1000 genomes]
rs11111979	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11111980	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11111981	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11111984	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11111987	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11111995	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11111996	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112006	0.92[ASN][1000 genomes]
rs11609469	0.89[ASN][1000 genomes]
rs12811618	0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17202060	0.98[ASN][1000 genomes]
rs17202520	0.92[ASN][1000 genomes]
rs4075411	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4595619	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4601859	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4964782	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4964783	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4964785	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5018287	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7132675	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7294778	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7488680	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[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
rs7298739	EID3	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:125 , 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	chr12:104683800-104690400	Strong transcription	Fetal Muscle Trunk	muscle
3	chr12:104683800-104693800	Weak transcription	Fetal Heart	heart
4	chr12:104683800-104696600	Weak transcription	Brain Anterior Caudate	brain
5	chr12:104683800-104696800	Weak transcription	Fetal Brain Male	brain
6	chr12:104683800-104697000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr12:104683800-104723800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr12:104684200-104693400	Strong transcription	Fetal Thymus	thymus
9	chr12:104684200-104696600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr12:104684400-104696600	Weak transcription	Right Atrium	heart
11	chr12:104684600-104694400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr12:104684600-104694800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
13	chr12:104684800-104690400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr12:104684800-104690800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr12:104684800-104693000	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr12:104684800-104693200	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr12:104685000-104695000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr12:104685400-104690800	Strong transcription	Fetal Muscle Leg	muscle
19	chr12:104685400-104691800	Strong transcription	Primary T cells from cord blood	blood
20	chr12:104685600-104690800	Strong transcription	Fetal Brain Female	brain
21	chr12:104685600-104691000	Strong transcription	Primary B cells from cord blood	blood
22	chr12:104685600-104691800	Strong transcription	Cortex derived primary cultured neurospheres	brain
23	chr12:104685800-104691800	Strong transcription	Thymus	Thymus
24	chr12:104685800-104696800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr12:104686000-104694200	Strong transcription	HUES48 Cell Line	embryonic stem cell
26	chr12:104686000-104696800	Weak transcription	Brain Angular Gyrus	brain
27	chr12:104686200-104696800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr12:104686200-104700600	Strong transcription	Dnd41	blood
29	chr12:104686400-104697600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr12:104686600-104692000	Strong transcription	Primary hematopoietic stem cells	blood
31	chr12:104686800-104694200	Strong transcription	HUES6 Cell Line	embryonic stem cell
32	chr12:104686800-104694400	Strong transcription	HUES64 Cell Line	embryonic stem cell
33	chr12:104686800-104696600	Weak transcription	Fetal Intestine Small	intestine
34	chr12:104687000-104691400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr12:104687200-104690800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr12:104687200-104696800	Weak transcription	Psoas Muscle	Psoas
37	chr12:104687200-104700600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr12:104687400-104696600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr12:104687400-104696600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr12:104687400-104696600	Weak transcription	Stomach Smooth Muscle	stomach
41	chr12:104687400-104697000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr12:104687600-104697400	Weak transcription	Gastric	stomach
43	chr12:104687800-104690600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr12:104688000-104694400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
45	chr12:104688000-104694400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
46	chr12:104688200-104690800	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr12:104688200-104693000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr12:104688200-104694200	Strong transcription	GM12878-XiMat	blood
49	chr12:104688400-104690400	Strong transcription	Lung	lung
50	chr12:104688400-104690600	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast

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