Variant report

Variant	rs4338623
Chromosome Location	chr12:87777450-87777451
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:87775414..87778904-chr12:87782463..87785146,3	MCF-7	breast:

Extended variants
information (count: 99 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:96)

rs_ID	r²[population]
rs10735256	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10735257	1.00[ASN][1000 genomes]
rs10735258	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10735261	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10735262	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10735264	0.88[EUR][1000 genomes]
rs10745442	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10745444	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10745446	0.83[AMR][1000 genomes]
rs10745448	0.88[EUR][1000 genomes]
rs10745449	0.88[EUR][1000 genomes]
rs10777031	0.89[EUR][1000 genomes]
rs10777032	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10777033	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10777034	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10777035	1.00[ASN][1000 genomes]
rs10777040	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10777042	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10777043	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10777048	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10858592	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10858599	0.86[EUR][1000 genomes]
rs11104443	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11104470	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1353484	0.88[EUR][1000 genomes]
rs1353486	0.88[EUR][1000 genomes]
rs1353487	0.88[EUR][1000 genomes]
rs1353488	0.88[EUR][1000 genomes]
rs1390604	0.88[EUR][1000 genomes]
rs1390605	0.88[EUR][1000 genomes]
rs1496320	0.88[EUR][1000 genomes]
rs1496321	0.88[EUR][1000 genomes]
rs2047306	0.88[EUR][1000 genomes]
rs2406753	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2406754	1.00[ASN][1000 genomes]
rs2897518	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4147490	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4240740	1.00[ASN][1000 genomes]
rs4254148	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4258454	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4269999	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4284481	1.00[ASN][1000 genomes]
rs4300469	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4300470	1.00[ASN][1000 genomes]
rs4303307	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4310691	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4319586	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4326883	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4372533	0.88[EUR][1000 genomes]
rs4402386	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4442619	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4456347	1.00[ASN][1000 genomes]
rs4460889	1.00[ASN][1000 genomes]
rs4466916	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4502057	1.00[ASN][1000 genomes]
rs4561282	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4564410	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4576908	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4590963	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4597138	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4625561	1.00[ASN][1000 genomes]
rs4635161	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4842455	1.00[ASN][1000 genomes]
rs4842462	0.83[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs4842556	1.00[ASN][1000 genomes]
rs4842559	1.00[ASN][1000 genomes]
rs4842570	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4842576	0.88[EUR][1000 genomes]
rs5005936	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6538078	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6538079	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6538082	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6538083	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6538084	0.86[EUR][1000 genomes]
rs6538086	1.00[ASN][1000 genomes]
rs6538087	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6538088	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6538104	0.88[EUR][1000 genomes]
rs6538105	0.88[EUR][1000 genomes]
rs6538106	0.88[EUR][1000 genomes]
rs7305305	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7310810	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7311170	0.88[EUR][1000 genomes]
rs7959041	0.83[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs7962840	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7967687	0.88[EUR][1000 genomes]
rs7969510	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7969855	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7970683	1.00[ASN][1000 genomes]
rs7970729	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7970832	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7970866	1.00[ASN][1000 genomes]
rs7971055	1.00[ASN][1000 genomes]
rs7971424	1.00[ASN][1000 genomes]
rs7974679	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7980176	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427918	chr12:87647585-87786660	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv430523	chr12:87757132-87865832	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv430525	chr12:87757132-87905532	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:87776600-87778400	Enhancers	HUES6 Cell Line	embryonic stem cell
2	chr12:87776600-87778400	Enhancers	Fetal Intestine Small	intestine
3	chr12:87776600-87778600	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr12:87776800-87778400	Enhancers	Fetal Intestine Large	intestine
5	chr12:87776800-87778400	Enhancers	Rectal Mucosa Donor 31	rectum
6	chr12:87776800-87779000	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr12:87777000-87777800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr12:87777000-87777800	Enhancers	Fetal Brain Male	brain
9	chr12:87777000-87777800	Enhancers	Fetal Lung	lung
10	chr12:87777000-87777800	Enhancers	Placenta Amnion	Placenta Amnion
11	chr12:87777000-87778400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr12:87777000-87778600	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr12:87777000-87779000	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr12:87777000-87779200	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr12:87777200-87778200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr12:87777400-87777800	Enhancers	HMEC	breast
17	chr12:87777400-87778400	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr12:87777400-87778600	Enhancers	Stomach Mucosa	stomach

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