Variant report

Variant	rs9941377
Chromosome Location	chr17:18214409-18214410
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	chr17:18207672..18211933-chr17:18214098..18218432,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000177302	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs16961060	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28523978	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28630807	1.00[AMR][1000 genomes]
rs4925174	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73288220	1.00[EUR][1000 genomes]
rs73980863	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9893653	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9897239	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9897554	1.00[EUR][1000 genomes]
rs9897954	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9898548	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9900382	1.00[EUR][1000 genomes]
rs9904323	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9905667	1.00[EUR][1000 genomes]
rs9907277	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9907337	1.00[EUR][1000 genomes]
rs9909732	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9909757	1.00[EUR][1000 genomes]
rs9911649	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916653	chr17:17651916-18454952	Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
2	nsv533142	chr17:17691726-18236686	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
3	nsv1061162	chr17:17978838-18259234	Flanking Active TSS Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	nsv492305	chr17:17980441-18424702	Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
5	nsv833386	chr17:18170261-18332726	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
6	nsv1057081	chr17:18171516-18256347	Active TSS Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv543247	chr17:18171516-18256347	Weak transcription Active TSS Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
8	nsv1062368	chr17:18180747-18259234	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
9	nsv833387	chr17:18200081-18378155	Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
10	esv1806346	chr17:18200081-18446384	Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
11	esv1812661	chr17:18200081-18446384	Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
12	nsv428333	chr17:18200081-18446384	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
13	nsv427992	chr17:18200081-19192047	Strong transcription Genic enhancers Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	100 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:18172200-18217400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr17:18184800-18217000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr17:18194600-18215600	Weak transcription	Fetal Heart	heart
4	chr17:18196800-18217000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr17:18201800-18216200	Strong transcription	H1 Cell Line	embryonic stem cell
6	chr17:18202200-18216600	Strong transcription	HUES64 Cell Line	embryonic stem cell
7	chr17:18202400-18215400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr17:18202400-18215600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr17:18202400-18215600	Strong transcription	Fetal Thymus	thymus
10	chr17:18202400-18216000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr17:18202400-18216000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr17:18202400-18216000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr17:18202400-18216200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr17:18202400-18216400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr17:18202400-18216400	Strong transcription	Fetal Stomach	stomach
16	chr17:18202400-18216600	Strong transcription	HUES48 Cell Line	embryonic stem cell
17	chr17:18202400-18216600	Strong transcription	HUES6 Cell Line	embryonic stem cell
18	chr17:18202400-18216600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
19	chr17:18202400-18216600	Strong transcription	Fetal Muscle Trunk	muscle
20	chr17:18202600-18215200	Strong transcription	HepG2	liver
21	chr17:18202600-18215600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
22	chr17:18202600-18215600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr17:18202600-18215800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr17:18203200-18216800	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr17:18206800-18217000	Weak transcription	Stomach Mucosa	stomach
26	chr17:18208600-18215200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr17:18208800-18217000	Weak transcription	Right Ventricle	heart
28	chr17:18209800-18215000	Weak transcription	Spleen	Spleen
29	chr17:18210200-18217000	Weak transcription	Psoas Muscle	Psoas
30	chr17:18210400-18215000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr17:18210400-18215000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr17:18210400-18215400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr17:18210400-18215400	Weak transcription	Fetal Brain Male	brain
34	chr17:18210600-18214800	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr17:18210600-18215000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr17:18210600-18215000	Weak transcription	HMEC	breast
37	chr17:18210600-18215200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr17:18210600-18215200	Weak transcription	Brain Substantia Nigra	brain
39	chr17:18210600-18215400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr17:18210600-18215400	Weak transcription	Primary T cells from cord blood	blood
41	chr17:18210600-18215400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr17:18210600-18215400	Weak transcription	Rectal Smooth Muscle	rectum
43	chr17:18210600-18215600	Weak transcription	Fetal Kidney	kidney
44	chr17:18210600-18216400	Weak transcription	Small Intestine	intestine
45	chr17:18210600-18216600	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr17:18210600-18217200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr17:18210800-18215000	Weak transcription	Brain Cingulate Gyrus	brain
48	chr17:18210800-18215200	Weak transcription	Colonic Mucosa	Colon
49	chr17:18210800-18215400	Weak transcription	Pancreas	Pancrea
50	chr17:18210800-18215600	Weak transcription	Colon Smooth Muscle	Colon

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