Variant report

Variant	rs11498194
Chromosome Location	chr6:45480190-45480191
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:45387751..45393702-chr6:45470128..45480232,15	MCF-7	breast:
2	chr6:45474814..45477373-chr6:45478111..45480979,2	K562	blood:

Variant related genes	Relation type
ENSG00000124813	Chromatin interaction
ENSG00000271857	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1319069	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs55910744	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56146601	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs59695096	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61243460	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62400363	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62400366	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62400367	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62400368	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62400369	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62400374	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62400375	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62400376	0.89[AMR][1000 genomes];0.96[EUR][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	nsv1028393	chr6:44875558-45822335	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv538211	chr6:44875558-45822335	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv427755	chr6:45474631-45627025	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv532024	chr6:45475088-45982640	Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:45465000-45521600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr6:45466000-45480200	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr6:45466400-45483400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr6:45466800-45488200	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr6:45466800-45497200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr6:45467200-45487800	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr6:45472200-45482400	Weak transcription	Spleen	Spleen
8	chr6:45473000-45482400	Weak transcription	Esophagus	oesophagus
9	chr6:45473000-45482400	Weak transcription	Placenta	Placenta
10	chr6:45473200-45480800	Weak transcription	Fetal Lung	lung
11	chr6:45473600-45480200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr6:45473600-45482000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr6:45473600-45482200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr6:45473600-45482200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr6:45473600-45482200	Weak transcription	HMEC	breast
16	chr6:45473600-45482600	Weak transcription	Fetal Intestine Small	intestine
17	chr6:45473800-45480200	Weak transcription	NH-A	brain
18	chr6:45474000-45480200	Weak transcription	Fetal Thymus	thymus
19	chr6:45474000-45480400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr6:45474000-45481200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr6:45474000-45489000	Weak transcription	Primary T cells from cord blood	blood
22	chr6:45474200-45480200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr6:45475000-45486000	Strong transcription	HSMM	muscle
24	chr6:45475400-45480800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr6:45476400-45482000	Weak transcription	Hela-S3	cervix
26	chr6:45478600-45482200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr6:45478600-45482600	Strong transcription	Dnd41	blood
28	chr6:45479000-45482800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
29	chr6:45479000-45483000	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr6:45479000-45484400	Strong transcription	Primary monocytes fromperipheralblood	blood
31	chr6:45479000-45500000	Weak transcription	Brain Cingulate Gyrus	brain
32	chr6:45479200-45480400	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr6:45479200-45482000	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr6:45479200-45483600	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr6:45479200-45485200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr6:45479400-45480200	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr6:45479400-45480800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr6:45479400-45481800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr6:45479400-45482800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr6:45479400-45483000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr6:45479400-45483000	Strong transcription	Osteobl	bone
42	chr6:45479600-45480200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr6:45479600-45480400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr6:45479600-45482200	Strong transcription	Muscle Satellite Cultured Cells	--
45	chr6:45479800-45481200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr6:45479800-45481400	Strong transcription	HSMMtube	muscle
47	chr6:45479800-45483000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr6:45480000-45480200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr6:45480000-45480200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr6:45480000-45480600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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