Variant report

Variant	rs9284166
Chromosome Location	chr12:123833718-123833719
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:123832815..123836496-chr12:123847723..123851604,4	MCF-7	breast:
2	chr12:123833002..123837136-chr12:123847313..123849620,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000139697	Chromatin interaction
ENSG00000256092	Chromatin interaction

Extended variants
information (count: 155 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:152)

rs_ID	r²[population]
rs10082867	0.83[ASN][1000 genomes]
rs10734902	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10744152	1.00[CEU][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10744153	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10744154	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10773003	0.80[ASN][1000 genomes]
rs10773004	0.81[ASN][1000 genomes]
rs10773005	0.81[ASN][1000 genomes]
rs10773006	0.81[ASN][1000 genomes]
rs10773012	0.90[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs10773013	0.90[ASN][1000 genomes]
rs10773018	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10846506	0.81[ASN][1000 genomes]
rs10846517	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10846519	1.00[CEU][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10846520	1.00[CEU][hapmap];0.89[ASN][1000 genomes]
rs10846523	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11057248	0.84[ASN][1000 genomes]
rs11057251	0.81[ASN][1000 genomes]
rs11057254	0.83[ASN][1000 genomes]
rs11057261	0.83[ASN][1000 genomes]
rs11057273	0.83[ASN][1000 genomes]
rs11057276	0.83[ASN][1000 genomes]
rs11057283	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11057284	0.83[ASN][1000 genomes]
rs11057287	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11608305	0.81[ASN][1000 genomes]
rs11611141	0.83[ASN][1000 genomes]
rs11611677	0.81[ASN][1000 genomes]
rs11611694	0.83[ASN][1000 genomes]
rs11612234	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11613711	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12315739	0.81[ASN][1000 genomes]
rs12317103	0.83[ASN][1000 genomes]
rs12317452	0.81[ASN][1000 genomes]
rs12366872	0.83[ASN][1000 genomes]
rs12367421	0.81[ASN][1000 genomes]
rs12582153	0.81[ASN][1000 genomes]
rs1660	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2048617	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2280424	1.00[CEU][hapmap]
rs28410096	0.81[ASN][1000 genomes]
rs28414347	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28417583	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28418709	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28419092	0.83[ASN][1000 genomes]
rs28435460	0.82[ASN][1000 genomes]
rs28446728	0.90[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs28450974	0.81[ASN][1000 genomes]
rs28461471	0.81[ASN][1000 genomes]
rs28498205	0.81[ASN][1000 genomes]
rs28501453	1.00[CEU][hapmap];0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28503862	0.81[ASN][1000 genomes]
rs28509440	0.83[ASN][1000 genomes]
rs28517382	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28532037	0.81[ASN][1000 genomes]
rs28533432	0.81[ASN][1000 genomes]
rs28537583	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28546238	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28581850	0.81[ASN][1000 genomes]
rs28587386	1.00[CEU][hapmap];0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28592032	0.81[ASN][1000 genomes]
rs28594416	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28595660	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28602967	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28604484	0.85[ASN][1000 genomes]
rs28605269	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28611282	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28613486	1.00[CEU][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28627651	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28631903	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28681105	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28703745	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28706693	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28718696	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28733606	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs28759130	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28786830	0.81[ASN][1000 genomes]
rs28820735	0.81[ASN][1000 genomes]
rs28825193	0.81[ASN][1000 genomes]
rs28862317	0.93[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs28865692	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28885203	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3088303	0.81[ASN][1000 genomes]
rs35818434	0.81[ASN][1000 genomes]
rs3759114	1.00[CEU][hapmap]
rs3803001	1.00[CEU][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3825141	1.00[CEU][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4759374	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4759375	0.81[ASN][1000 genomes]
rs4759376	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4759377	0.83[ASN][1000 genomes]
rs4759408	1.00[CEU][hapmap]
rs4759411	1.00[CEU][hapmap]
rs4759413	1.00[CEU][hapmap]
rs4759414	1.00[CEU][hapmap]
rs4759421	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56116847	0.82[ASN][1000 genomes]
rs57356592	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57416942	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58491161	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58537268	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58948739	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59295450	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60754073	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs60755632	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61058270	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61388686	0.83[ASN][1000 genomes]
rs61751327	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6416289	0.88[ASN][1000 genomes]
rs6488869	1.00[CEU][hapmap];0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6488870	1.00[CEU][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6488871	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6488872	1.00[ASN][1000 genomes]
rs6488874	0.89[ASN][1000 genomes]
rs7137243	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7297649	1.00[CEU][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7297888	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7298909	0.83[ASN][1000 genomes]
rs7301163	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7310756	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7311304	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7312145	0.83[ASN][1000 genomes]
rs7315453	0.83[ASN][1000 genomes]
rs73216937	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73231950	0.81[ASN][1000 genomes]
rs7484644	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7485967	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7486223	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7486723	0.90[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7488340	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7952835	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7954704	0.83[ASN][1000 genomes]
rs7955367	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7959415	1.00[CEU][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7962723	0.85[ASN][1000 genomes]
rs7970080	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7971557	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7972811	0.83[ASN][1000 genomes]
rs7973131	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7973878	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7977563	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9300256	0.96[ASN][1000 genomes]
rs9300257	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9300259	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9669169	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9669273	0.83[ASN][1000 genomes]
rs9669295	0.82[ASN][1000 genomes]
rs9739008	0.95[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs9739171	0.83[ASN][1000 genomes]
rs9739565	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9795593	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];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	nsv1038841	chr12:123757305-124087671	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv541622	chr12:123757305-124087671	Enhancers Strong transcription Genic enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	nsv1035223	chr12:123795559-123991706	Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123772400-123847800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:123773000-123835200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr12:123773200-123834200	Strong transcription	HUES64 Cell Line	embryonic stem cell
4	chr12:123773200-123835000	Strong transcription	Primary T helper cells fromperipheralblood	blood
5	chr12:123773200-123835000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr12:123773200-123838000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:123773400-123835000	Strong transcription	Fetal Thymus	thymus
8	chr12:123773400-123835400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr12:123773400-123837200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr12:123773600-123835200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr12:123773600-123835400	Strong transcription	HUES6 Cell Line	embryonic stem cell
12	chr12:123773800-123834800	Strong transcription	Duodenum Mucosa	Duodenum
13	chr12:123773800-123837200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr12:123773800-123837400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr12:123774000-123835000	Strong transcription	Fetal Muscle Trunk	muscle
16	chr12:123774000-123835200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
17	chr12:123774000-123835400	Strong transcription	Dnd41	blood
18	chr12:123775600-123835400	Strong transcription	HUES48 Cell Line	embryonic stem cell
19	chr12:123776400-123835000	Strong transcription	Thymus	Thymus
20	chr12:123776600-123834400	Strong transcription	Primary T helper cells PMA-I stimulated	--
21	chr12:123777000-123835400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr12:123777600-123834800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr12:123785600-123835000	Strong transcription	Fetal Muscle Leg	muscle
24	chr12:123790200-123835000	Strong transcription	Fetal Intestine Large	intestine
25	chr12:123805000-123834000	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr12:123805200-123835200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr12:123807600-123845200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr12:123812200-123835200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr12:123813800-123835600	Strong transcription	Cortex derived primary cultured neurospheres	brain
30	chr12:123815200-123835600	Strong transcription	Fetal Intestine Small	intestine
31	chr12:123815200-123837200	Strong transcription	Fetal Stomach	stomach
32	chr12:123815400-123835000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr12:123815600-123842000	Weak transcription	Psoas Muscle	Psoas
34	chr12:123816000-123838400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr12:123816000-123847400	Weak transcription	Stomach Mucosa	stomach
36	chr12:123817600-123834200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr12:123817800-123834800	Strong transcription	Sigmoid Colon	Sigmoid Colon
38	chr12:123820400-123847000	Weak transcription	Fetal Brain Male	brain
39	chr12:123821400-123834200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr12:123821600-123835600	Strong transcription	Primary T cells fromperipheralblood	blood
41	chr12:123823600-123835000	Strong transcription	Primary B cells from peripheral blood	blood
42	chr12:123825800-123835000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr12:123826600-123835000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr12:123826800-123834800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
45	chr12:123826800-123835000	Strong transcription	Placenta Amnion	Placenta Amnion
46	chr12:123827000-123834000	Strong transcription	Adipose Nuclei	Adipose
47	chr12:123827000-123834000	Strong transcription	Rectal Mucosa Donor 29	rectum
48	chr12:123827000-123834200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr12:123827000-123834800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr12:123827000-123835000	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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