Variant report

Variant	rs12270100
Chromosome Location	chr11:46314067-46314068
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:46264754..46267699-chr11:46310847..46314197,3	K562	blood:
2	chr11:46313896..46315645-chr11:46373692..46376620,2	K562	blood:
3	chr11:46302896..46305879-chr11:46311547..46314983,4	MCF-7	breast:
4	chr11:46312288..46315333-chr11:46315909..46318764,4	MCF-7	breast:
5	chr11:46257763..46260368-chr11:46312557..46314741,2	K562	blood:
6	chr11:46293083..46308698-chr11:46310742..46320666,35	K562	blood:
7	chr11:46264430..46267699-chr11:46311283..46314197,3	K562	blood:

Variant related genes	Relation type
ENSG00000157613	Chromatin interaction
ENSG00000254639	Chromatin interaction
ENSG00000255007	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs12277858	0.81[MKK][hapmap]
rs7938548	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv554201	chr11:46281835-46422686	Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv825867	chr11:46303184-46425613	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46307200-46317000	Weak transcription	Small Intestine	intestine
2	chr11:46309000-46316800	Weak transcription	GM12878-XiMat	blood
3	chr11:46310000-46316400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr11:46310000-46316800	Enhancers	Placenta Amnion	Placenta Amnion
5	chr11:46310200-46316200	Genic enhancers	Fetal Stomach	stomach
6	chr11:46310800-46314400	Enhancers	Fetal Lung	lung
7	chr11:46311000-46314400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr11:46311200-46316200	Enhancers	Fetal Muscle Leg	muscle
9	chr11:46311400-46314200	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr11:46311400-46314200	Enhancers	H1 Cell Line	embryonic stem cell
11	chr11:46311400-46314200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr11:46311400-46314200	Enhancers	Rectal Smooth Muscle	rectum
13	chr11:46311600-46314200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr11:46311600-46314400	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr11:46312000-46314800	Enhancers	Fetal Muscle Trunk	muscle
16	chr11:46312200-46314200	Enhancers	Colonic Mucosa	Colon
17	chr11:46312200-46314800	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr11:46312200-46315400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr11:46312200-46316400	Weak transcription	Left Ventricle	heart
20	chr11:46312200-46316600	Weak transcription	Right Atrium	heart
21	chr11:46312200-46316600	Weak transcription	Spleen	Spleen
22	chr11:46312600-46316200	Weak transcription	Lung	lung
23	chr11:46312800-46316600	Weak transcription	Right Ventricle	heart
24	chr11:46313200-46314800	Enhancers	NHLF	lung
25	chr11:46313200-46315000	Weak transcription	K562	blood
26	chr11:46313200-46315000	Enhancers	NHDF-Ad	bronchial
27	chr11:46313400-46314800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr11:46313400-46314800	Weak transcription	Fetal Thymus	thymus
29	chr11:46313400-46315400	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr11:46313400-46315400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr11:46313400-46316800	Enhancers	HSMMtube	muscle
32	chr11:46313600-46314800	Weak transcription	Stomach Mucosa	stomach
33	chr11:46313600-46315200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr11:46313600-46315200	Weak transcription	Hela-S3	cervix
35	chr11:46313600-46315600	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr11:46313600-46315600	Genic enhancers	HSMM	muscle
37	chr11:46313600-46316000	Enhancers	NH-A	brain
38	chr11:46313800-46314200	Weak transcription	Gastric	stomach
39	chr11:46313800-46314600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr11:46313800-46314800	Strong transcription	Duodenum Mucosa	Duodenum
41	chr11:46313800-46315000	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr11:46313800-46315000	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr11:46313800-46315000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr11:46313800-46315200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr11:46313800-46315400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr11:46313800-46315400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr11:46313800-46315600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr11:46313800-46315800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
49	chr11:46313800-46315800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr11:46313800-46315800	Weak transcription	HUES48 Cell Line	embryonic stem cell

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