Variant report

Variant	rs1700188
Chromosome Location	chr11:66254936-66254937
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:66245983..66252638-chr11:66253022..66262739,17	MCF-7	breast:
2	chr11:66253352..66256164-chr11:66257074..66258893,2	K562	blood:
3	chr11:66243353..66245736-chr11:66254515..66256675,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000254986	Chromatin interaction
ENSG00000255517	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs1039593	1.00[EUR][1000 genomes]
rs10750785	1.00[EUR][1000 genomes]
rs10750787	1.00[EUR][1000 genomes]
rs10791871	1.00[EUR][1000 genomes]
rs10791875	1.00[EUR][1000 genomes]
rs10791877	1.00[EUR][1000 genomes]
rs11227537	1.00[AMR][1000 genomes]
rs1189692	1.00[EUR][1000 genomes]
rs1190627	1.00[EUR][1000 genomes]
rs1190628	1.00[EUR][1000 genomes]
rs1190630	1.00[EUR][1000 genomes]
rs1203483	1.00[EUR][1000 genomes]
rs12281049	1.00[EUR][1000 genomes]
rs1320675	1.00[EUR][1000 genomes]
rs1532823	1.00[EUR][1000 genomes]
rs1566871	1.00[EUR][1000 genomes]
rs1621469	1.00[EUR][1000 genomes]
rs1784030	1.00[EUR][1000 genomes]
rs1784035	1.00[EUR][1000 genomes]
rs1785623	1.00[EUR][1000 genomes]
rs1785624	1.00[EUR][1000 genomes]
rs1785636	1.00[EUR][1000 genomes]
rs1791677	1.00[EUR][1000 genomes]
rs3016763	1.00[EUR][1000 genomes]
rs3132761	1.00[EUR][1000 genomes]
rs35599411	1.00[EUR][1000 genomes]
rs3850949	1.00[EUR][1000 genomes]
rs3867130	1.00[EUR][1000 genomes]
rs4290235	1.00[EUR][1000 genomes]
rs4930358	1.00[EUR][1000 genomes]
rs4930359	1.00[EUR][1000 genomes]
rs4930361	1.00[EUR][1000 genomes]
rs4930364	1.00[EUR][1000 genomes]
rs4930367	1.00[EUR][1000 genomes]
rs4930388	1.00[AMR][1000 genomes]
rs495264	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs525698	1.00[EUR][1000 genomes]
rs548344	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs580850	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs670900	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7104297	1.00[EUR][1000 genomes]
rs7105162	1.00[EUR][1000 genomes]
rs7125100	1.00[EUR][1000 genomes]
rs7130857	1.00[EUR][1000 genomes]
rs7131396	1.00[EUR][1000 genomes]
rs71457730	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs908693	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs948359	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3392427	chr11:65981489-66273695	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
2	nsv897771	chr11:66011280-66362997	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	124 gene(s)	inside rSNPs	diseases
3	nsv897780	chr11:66083129-66362997	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
4	nsv832193	chr11:66120339-66278805	Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
5	nsv468601	chr11:66234023-66296114	Strong transcription Flanking Active TSS Genic enhancers Enhancers Weak transcription Bivalent Enhancer Active TSS 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	37 gene(s)	inside rSNPs	diseases
6	nsv555224	chr11:66234023-66296114	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
7	nsv522277	chr11:66234023-66493825	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 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	chr11:66248400-66255000	Weak transcription	Aorta	Aorta
2	chr11:66248400-66256800	Weak transcription	Left Ventricle	heart
3	chr11:66248600-66255000	Weak transcription	A549	lung
4	chr11:66248600-66256800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr11:66248600-66259200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr11:66248600-66259200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr11:66248600-66260200	Weak transcription	HUVEC	blood vessel
8	chr11:66248600-66260200	Weak transcription	NH-A	brain
9	chr11:66248600-66260600	Weak transcription	Psoas Muscle	Psoas
10	chr11:66248600-66260800	Weak transcription	Right Atrium	heart
11	chr11:66248600-66261600	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr11:66248600-66263200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr11:66248600-66263200	Weak transcription	Small Intestine	intestine
14	chr11:66248600-66277600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr11:66248600-66277600	Weak transcription	Fetal Brain Male	brain
16	chr11:66248600-66277600	Weak transcription	Fetal Lung	lung
17	chr11:66248600-66278000	Weak transcription	NHDF-Ad	bronchial
18	chr11:66248800-66255000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr11:66248800-66255200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr11:66248800-66255400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr11:66248800-66259200	Weak transcription	HMEC	breast
22	chr11:66248800-66261200	Weak transcription	Stomach Mucosa	stomach
23	chr11:66248800-66277600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr11:66248800-66277600	Weak transcription	K562	blood
25	chr11:66249600-66257000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr11:66249600-66259200	Strong transcription	Fetal Intestine Small	intestine
27	chr11:66249600-66265200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
28	chr11:66249600-66265400	Strong transcription	Lung	lung
29	chr11:66249600-66266800	Strong transcription	HUES6 Cell Line	embryonic stem cell
30	chr11:66249600-66268200	Strong transcription	Thymus	Thymus
31	chr11:66249600-66268400	Strong transcription	Adipose Nuclei	Adipose
32	chr11:66249800-66258000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr11:66249800-66260400	Strong transcription	Rectal Mucosa Donor 31	rectum
34	chr11:66249800-66265200	Strong transcription	Gastric	stomach
35	chr11:66249800-66265200	Strong transcription	NHEK	skin
36	chr11:66249800-66267000	Strong transcription	Spleen	Spleen
37	chr11:66249800-66268800	Strong transcription	Fetal Thymus	thymus
38	chr11:66249800-66268800	Strong transcription	Rectal Mucosa Donor 29	rectum
39	chr11:66249800-66273200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr11:66250000-66255000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr11:66250000-66258000	Strong transcription	Primary T cells from cord blood	blood
42	chr11:66250000-66259200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr11:66250000-66268400	Strong transcription	Monocytes-CD14+_RO01746	blood
44	chr11:66250200-66260000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr11:66250200-66261200	Strong transcription	Primary T helper cells fromperipheralblood	blood
46	chr11:66250200-66266600	Strong transcription	Primary neutrophils fromperipheralblood	blood
47	chr11:66250200-66266600	Strong transcription	Dnd41	blood
48	chr11:66250200-66268400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr11:66250200-66268400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr11:66250400-66257600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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