Variant report

Variant	rs11168251
Chromosome Location	chr12:48209663-48209664
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:48208028..48210618-chr17:57914996..57917527,2	MCF-7	breast:
2	chr12:48180173..48182557-chr12:48208551..48210308,2	MCF-7	breast:
3	chr12:48200947..48203542-chr12:48208832..48210426,2	K562	blood:

Variant related genes	Relation type
ENSG00000062716	Chromatin interaction
ENSG00000061273	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11168244	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11168245	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11168250	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11168252	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs55726902	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56389811	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73107980	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73107993	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs875023	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051941	chr12:48114026-48233128	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer 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	75 gene(s)	inside rSNPs	diseases
2	nsv541487	chr12:48114026-48233128	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	75 gene(s)	inside rSNPs	diseases
3	nsv1036804	chr12:48114026-48287048	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
4	nsv524967	chr12:48119562-48215180	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
5	nsv899059	chr12:48129344-48215180	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
6	nsv1052034	chr12:48146633-48287048	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
7	nsv899060	chr12:48180508-48231430	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
8	esv3693398	chr12:48186738-48215749	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
9	nsv1048466	chr12:48195350-48262541	Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
10	nsv541488	chr12:48195350-48262541	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48205400-48211800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:48207400-48210200	Genic enhancers	Fetal Muscle Trunk	muscle
3	chr12:48207400-48211400	Weak transcription	Fetal Brain Male	brain
4	chr12:48207600-48210600	Enhancers	Primary T helper naive cells from peripheral blood	blood
5	chr12:48207600-48210800	Weak transcription	HepG2	liver
6	chr12:48207600-48211800	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr12:48207800-48210000	Enhancers	Colon Smooth Muscle	Colon
8	chr12:48207800-48210200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr12:48207800-48210600	Enhancers	Left Ventricle	heart
10	chr12:48208000-48209800	Genic enhancers	HUVEC	blood vessel
11	chr12:48208000-48210000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr12:48208000-48210000	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr12:48208000-48210000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr12:48208000-48210400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr12:48208000-48211000	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr12:48208000-48211200	Enhancers	Primary B cells from peripheral blood	blood
17	chr12:48208200-48210200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr12:48208200-48210200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr12:48208200-48210200	Genic enhancers	Primary T cells fromperipheralblood	blood
20	chr12:48208200-48210200	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr12:48208200-48210200	Weak transcription	Brain Anterior Caudate	brain
22	chr12:48208200-48210200	Weak transcription	Dnd41	blood
23	chr12:48208200-48210400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr12:48208200-48210400	Weak transcription	Brain Germinal Matrix	brain
25	chr12:48208200-48210600	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr12:48208200-48210600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr12:48208200-48210800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr12:48208200-48210800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr12:48208200-48211200	Enhancers	Primary B cells from cord blood	blood
30	chr12:48208200-48211800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
31	chr12:48208400-48210200	Enhancers	Duodenum Smooth Muscle	Duodenum
32	chr12:48208400-48210200	Weak transcription	HMEC	breast
33	chr12:48208600-48210000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr12:48208600-48210000	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr12:48208600-48210200	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr12:48208600-48210200	Weak transcription	Pancreas	Pancrea
37	chr12:48208600-48210200	Enhancers	Right Ventricle	heart
38	chr12:48208600-48210200	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chr12:48208600-48210200	Genic enhancers	Hela-S3	cervix
40	chr12:48208600-48210600	Enhancers	Primary T killer memory cells from peripheral blood	blood
41	chr12:48208600-48210600	Weak transcription	Fetal Intestine Small	intestine
42	chr12:48208600-48210800	Weak transcription	HSMMtube	muscle
43	chr12:48208600-48212400	Weak transcription	Ovary	ovary
44	chr12:48208800-48210200	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr12:48208800-48210200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr12:48208800-48210200	Weak transcription	Brain Angular Gyrus	brain
47	chr12:48208800-48210600	Enhancers	Primary neutrophils fromperipheralblood	blood
48	chr12:48208800-48210600	Weak transcription	Colonic Mucosa	Colon
49	chr12:48208800-48210600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr12:48208800-48210600	Enhancers	Spleen	Spleen

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