Variant report

Variant	rs11835018
Chromosome Location	chr12:56485869-56485870
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOSL2	chr12:56485583-56485876	HepG2	liver:	n/a	n/a
2	POLR2A	chr12:56483806-56486007	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:56485826..56488734-chr12:56509000..56512057,4	MCF-7	breast:
2	chr12:56483596..56488574-chr12:56493578..56499435,8	MCF-7	breast:
3	chr12:56481353..56485182-chr12:56485259..56488237,4	K562	blood:
4	chr12:56485510..56489387-chr12:56490839..56493900,6	K562	blood:

Variant related genes	Relation type
ERBB3	TF binding region
ENSG00000257411	Chromatin interaction
ENSG00000139641	Chromatin interaction
ENSG00000135482	Chromatin interaction
ENSG00000229117	Chromatin interaction
ENSG00000065361	Chromatin interaction
ENSG00000170515	Chromatin interaction

Extended variants
information (count: 88 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs1066130	1.00[EUR][1000 genomes]
rs1068188	1.00[EUR][1000 genomes]
rs1068189	1.00[EUR][1000 genomes]
rs1088050	1.00[EUR][1000 genomes]
rs1091527	1.00[EUR][1000 genomes]
rs11171818	1.00[EUR][1000 genomes]
rs11171819	1.00[EUR][1000 genomes]
rs11575221	1.00[EUR][1000 genomes]
rs11575236	1.00[EUR][1000 genomes]
rs11833164	1.00[EUR][1000 genomes]
rs11834873	1.00[EUR][1000 genomes]
rs11835310	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11837075	0.87[AMR][1000 genomes]
rs11837183	0.87[AMR][1000 genomes]
rs1626158	1.00[EUR][1000 genomes]
rs1681071	1.00[EUR][1000 genomes]
rs1681079	1.00[EUR][1000 genomes]
rs1681080	1.00[EUR][1000 genomes]
rs1681088	1.00[EUR][1000 genomes]
rs1689508	1.00[EUR][1000 genomes]
rs1689509	1.00[EUR][1000 genomes]
rs1689517	1.00[EUR][1000 genomes]
rs1689518	1.00[EUR][1000 genomes]
rs1701701	1.00[EUR][1000 genomes]
rs1701702	1.00[EUR][1000 genomes]
rs1702872	1.00[EUR][1000 genomes]
rs17118461	1.00[EUR][1000 genomes]
rs1918496	1.00[EUR][1000 genomes]
rs2035948	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2625137	1.00[EUR][1000 genomes]
rs2625146	1.00[EUR][1000 genomes]
rs2629445	1.00[EUR][1000 genomes]
rs2640566	1.00[EUR][1000 genomes]
rs2640568	1.00[EUR][1000 genomes]
rs2658478	1.00[EUR][1000 genomes]
rs2661728	1.00[EUR][1000 genomes]
rs2661729	1.00[EUR][1000 genomes]
rs2934152	1.00[EUR][1000 genomes]
rs34323718	1.00[EUR][1000 genomes]
rs4301822	1.00[EUR][1000 genomes]
rs4417324	1.00[EUR][1000 genomes]
rs56696262	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57237559	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57387549	1.00[EUR][1000 genomes]
rs57785224	1.00[EUR][1000 genomes]
rs57990974	1.00[EUR][1000 genomes]
rs58349500	1.00[EUR][1000 genomes]
rs59286728	1.00[EUR][1000 genomes]
rs59794023	1.00[EUR][1000 genomes]
rs60740107	0.87[AMR][1000 genomes]
rs61733171	1.00[EUR][1000 genomes]
rs705697	1.00[EUR][1000 genomes]
rs705710	1.00[EUR][1000 genomes]
rs705712	1.00[EUR][1000 genomes]
rs705713	1.00[EUR][1000 genomes]
rs705714	1.00[EUR][1000 genomes]
rs705716	1.00[EUR][1000 genomes]
rs7298109	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7300292	1.00[EUR][1000 genomes]
rs7304690	1.00[EUR][1000 genomes]
rs7305481	0.87[AMR][1000 genomes]
rs7309327	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7310292	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73324353	1.00[EUR][1000 genomes]
rs73324358	1.00[EUR][1000 genomes]
rs73338377	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73338385	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs772459	1.00[EUR][1000 genomes]
rs772463	1.00[EUR][1000 genomes]
rs772464	1.00[EUR][1000 genomes]
rs772470	1.00[EUR][1000 genomes]
rs772474	1.00[EUR][1000 genomes]
rs772697	1.00[EUR][1000 genomes]
rs772698	1.00[EUR][1000 genomes]
rs772699	1.00[EUR][1000 genomes]
rs772701	1.00[EUR][1000 genomes]
rs772705	1.00[EUR][1000 genomes]
rs7954155	1.00[EUR][1000 genomes]
rs7954200	1.00[EUR][1000 genomes]
rs7957187	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7958958	1.00[EUR][1000 genomes]
rs7962107	1.00[EUR][1000 genomes]
rs7975405	1.00[EUR][1000 genomes]
rs7977692	1.00[EUR][1000 genomes]
rs7980782	1.00[EUR][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	nsv1051961	chr12:56262220-56629427	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	284 gene(s)	inside rSNPs	diseases
2	nsv1043988	chr12:56348185-56534900	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription 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 target site	189 gene(s)	inside rSNPs	diseases
3	nsv832427	chr12:56392545-56512774	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56474400-56497200	Weak transcription	Right Atrium	heart
2	chr12:56476200-56497200	Weak transcription	Fetal Kidney	kidney
3	chr12:56476600-56487400	Weak transcription	Lung	lung
4	chr12:56476600-56496400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
5	chr12:56476600-56497600	Weak transcription	Small Intestine	intestine
6	chr12:56476800-56487200	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr12:56477000-56497000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr12:56477000-56497000	Strong transcription	HUES48 Cell Line	embryonic stem cell
9	chr12:56477600-56496600	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr12:56477800-56496200	Strong transcription	H1 Cell Line	embryonic stem cell
11	chr12:56478600-56496400	Strong transcription	HUES6 Cell Line	embryonic stem cell
12	chr12:56479200-56486400	Weak transcription	Brain Anterior Caudate	brain
13	chr12:56479200-56486400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr12:56479200-56489800	Weak transcription	Rectal Smooth Muscle	rectum
15	chr12:56479200-56496000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr12:56479200-56496400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr12:56479400-56496800	Strong transcription	Fetal Intestine Small	intestine
18	chr12:56479400-56497200	Strong transcription	Fetal Intestine Large	intestine
19	chr12:56480000-56495800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr12:56480000-56496400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
21	chr12:56480400-56493400	Weak transcription	NHEK	skin
22	chr12:56481200-56496200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr12:56481200-56496800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr12:56481200-56497000	Weak transcription	Hela-S3	cervix
25	chr12:56481400-56492400	Strong transcription	Duodenum Mucosa	Duodenum
26	chr12:56481600-56496400	Strong transcription	Rectal Mucosa Donor 31	rectum
27	chr12:56481600-56496600	Strong transcription	Placenta	Placenta
28	chr12:56481600-56497000	Strong transcription	Fetal Muscle Leg	muscle
29	chr12:56481600-56497200	Strong transcription	Liver	Liver
30	chr12:56482000-56487000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr12:56482400-56486600	Weak transcription	HSMMtube	muscle
32	chr12:56482600-56486400	Weak transcription	Brain Substantia Nigra	brain
33	chr12:56482600-56486400	Weak transcription	Esophagus	oesophagus
34	chr12:56482800-56486400	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr12:56482800-56486600	Weak transcription	Colonic Mucosa	Colon
36	chr12:56482800-56486600	Weak transcription	Fetal Muscle Trunk	muscle
37	chr12:56482800-56486800	Weak transcription	Brain Angular Gyrus	brain
38	chr12:56482800-56497600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr12:56483000-56486600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr12:56483000-56486600	Weak transcription	Stomach Mucosa	stomach
41	chr12:56483000-56487000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr12:56483200-56486600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr12:56483200-56486600	Weak transcription	Brain Hippocampus Middle	brain
44	chr12:56483800-56486200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr12:56484200-56486800	Weak transcription	Gastric	stomach
46	chr12:56484200-56496800	Strong transcription	Rectal Mucosa Donor 29	rectum
47	chr12:56484400-56490200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr12:56484600-56488400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr12:56485000-56496000	Strong transcription	Sigmoid Colon	Sigmoid Colon
50	chr12:56485200-56491400	Strong transcription	Brain Cingulate Gyrus	brain

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