Variant report

Variant	rs28930681
Chromosome Location	chr11:18103014-18103015
allele	C/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	ZNF263	chr11:18102813-18103707	HEK293-T-REx	kidney:	n/a	chr11:18103307-18103328 chr11:18103361-18103382
2	NFIC	chr11:18102953-18103524	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:18034234..18035832-chr11:18102491..18104854,2	MCF-7	breast:
2	chr11:18102086..18103945-chr11:18110453..18114636,4	K562	blood:
3	chr11:18101916..18104550-chr11:18109024..18114636,6	K562	blood:

Variant related genes	Relation type
SAAL1	TF binding region
ENSG00000166788	Chromatin interaction
ENSG00000129158	Chromatin interaction

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

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

rs_ID	r²[population]
rs16934947	0.85[AFR][1000 genomes]
rs3946774	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	nsv949248	chr11:17791822-18692687	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv553606	chr11:18098635-18105302	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:18083200-18109000	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr11:18084800-18108400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr11:18085200-18104200	Weak transcription	Fetal Intestine Small	intestine
4	chr11:18085200-18113000	Weak transcription	Fetal Brain Male	brain
5	chr11:18085800-18109600	Weak transcription	Spleen	Spleen
6	chr11:18086000-18105600	Weak transcription	Right Ventricle	heart
7	chr11:18086400-18107600	Weak transcription	Lung	lung
8	chr11:18087400-18109800	Weak transcription	Gastric	stomach
9	chr11:18087400-18115800	Weak transcription	Pancreas	Pancrea
10	chr11:18087600-18105200	Weak transcription	NHEK	skin
11	chr11:18090200-18107600	Weak transcription	Aorta	Aorta
12	chr11:18092200-18107200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr11:18092800-18105800	Weak transcription	Left Ventricle	heart
14	chr11:18092800-18109400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr11:18093200-18106000	Weak transcription	Fetal Stomach	stomach
16	chr11:18094200-18108400	Weak transcription	Brain Substantia Nigra	brain
17	chr11:18094600-18107600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr11:18094800-18105600	Weak transcription	Hela-S3	cervix
19	chr11:18094800-18107600	Weak transcription	Esophagus	oesophagus
20	chr11:18096400-18106000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr11:18096400-18118000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr11:18097200-18105600	Weak transcription	NHDF-Ad	bronchial
23	chr11:18097600-18107600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr11:18098200-18124400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr11:18098400-18107600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr11:18099000-18125800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr11:18099200-18107800	Weak transcription	Brain Angular Gyrus	brain
28	chr11:18099200-18114200	Weak transcription	Fetal Heart	heart
29	chr11:18099600-18114800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr11:18099800-18103200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr11:18099800-18103600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr11:18099800-18104000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
33	chr11:18099800-18106600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr11:18099800-18106600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr11:18099800-18118400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr11:18099800-18124800	Strong transcription	Dnd41	blood
37	chr11:18100000-18103400	Strong transcription	Sigmoid Colon	Sigmoid Colon
38	chr11:18100200-18108400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr11:18100200-18126200	Weak transcription	Small Intestine	intestine
40	chr11:18100400-18103200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr11:18100400-18103400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
42	chr11:18100400-18103400	Strong transcription	Fetal Brain Female	brain
43	chr11:18100400-18103600	Strong transcription	Primary B cells from peripheral blood	blood
44	chr11:18100400-18110400	Strong transcription	Monocytes-CD14+_RO01746	blood
45	chr11:18100400-18118600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
46	chr11:18100400-18126000	Strong transcription	HUES48 Cell Line	embryonic stem cell
47	chr11:18100600-18103400	Strong transcription	Placenta	Placenta
48	chr11:18100600-18103600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
49	chr11:18100600-18103600	Strong transcription	Primary T helper cells fromperipheralblood	blood
50	chr11:18100600-18103800	Strong transcription	Liver	Liver

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