Variant report

Variant	rs506888
Chromosome Location	chr11:94186187-94186188
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	chr11:94185882..94188334-chr11:94225104..94227120,2	K562	blood:

Variant related genes	Relation type
ENSG00000168876	Chromatin interaction
ENSG00000020922	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12800817	1.00[AFR][1000 genomes]
rs35118454	1.00[AFR][1000 genomes]
rs486826	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1795745	chr11:94144987-94227993	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	esv1798271	chr11:94144987-94227993	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	esv1797582	chr11:94182992-94227993	Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
4	esv1800372	chr11:94182992-94227993	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:94152200-94206200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:94157400-94194200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr11:94157400-94216600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr11:94157400-94226200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:94157600-94226400	Weak transcription	Esophagus	oesophagus
6	chr11:94162800-94216400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr11:94162800-94225800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr11:94163000-94192800	Weak transcription	HSMMtube	muscle
9	chr11:94163000-94199200	Weak transcription	Brain Cingulate Gyrus	brain
10	chr11:94163000-94206000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr11:94163000-94207200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr11:94163400-94221000	Weak transcription	Psoas Muscle	Psoas
13	chr11:94166600-94216400	Weak transcription	Gastric	stomach
14	chr11:94166800-94202200	Weak transcription	Stomach Mucosa	stomach
15	chr11:94167200-94206000	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr11:94167400-94226400	Weak transcription	Small Intestine	intestine
17	chr11:94167600-94206000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr11:94168800-94191000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr11:94169800-94199000	Weak transcription	Rectal Smooth Muscle	rectum
20	chr11:94169800-94215400	Weak transcription	Brain Angular Gyrus	brain
21	chr11:94170000-94192600	Weak transcription	Aorta	Aorta
22	chr11:94170000-94192800	Weak transcription	Right Ventricle	heart
23	chr11:94170000-94192800	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr11:94170000-94194200	Weak transcription	Spleen	Spleen
25	chr11:94170200-94192400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr11:94170400-94192200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr11:94172200-94190200	Weak transcription	K562	blood
28	chr11:94177800-94192600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr11:94178400-94192800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr11:94178400-94221600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr11:94178600-94189200	Weak transcription	Stomach Smooth Muscle	stomach
32	chr11:94178600-94192400	Weak transcription	HUVEC	blood vessel
33	chr11:94179000-94192600	Weak transcription	Brain Hippocampus Middle	brain
34	chr11:94179000-94192600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr11:94179000-94226000	Weak transcription	Colonic Mucosa	Colon
36	chr11:94179200-94186400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr11:94179200-94186400	Weak transcription	Fetal Kidney	kidney
38	chr11:94179200-94189800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr11:94179200-94199000	Weak transcription	Fetal Brain Female	brain
40	chr11:94179200-94200000	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr11:94179400-94192400	Weak transcription	HSMM	muscle
42	chr11:94179400-94192600	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr11:94179400-94206200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr11:94179600-94190800	Weak transcription	Left Ventricle	heart
45	chr11:94179600-94192800	Weak transcription	Fetal Muscle Trunk	muscle
46	chr11:94180000-94217600	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr11:94180200-94186200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr11:94180200-94186400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr11:94180400-94192600	Weak transcription	NH-A	brain
50	chr11:94180400-94192800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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