Variant report

Variant	rs11589384
Chromosome Location	chr1:171498366-171498367
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	chr1:171497816..171500280-chr1:171502329..171504189,2	MCF-7	breast:
2	chr1:171493107..171495006-chr1:171497100..171499938,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10753138	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10913136	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10913141	1.00[YRI][hapmap]
rs10913165	0.85[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs11587602	0.85[ASN][1000 genomes]
rs12025905	1.00[YRI][hapmap]
rs12078309	0.86[ASN][1000 genomes]
rs12079162	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[ASN][1000 genomes]
rs12239382	1.00[YRI][hapmap]
rs12564279	0.80[JPT][hapmap]
rs12567152	0.80[JPT][hapmap]
rs2038043	0.80[JPT][hapmap]
rs2207192	0.91[ASN][1000 genomes]
rs2272810	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28831777	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3736679	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3817772	0.81[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs4916387	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61814748	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6703132	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7517178	0.80[JPT][hapmap]
rs7536723	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv14617	chr1:171016086-171726961	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	esv3512995	chr1:171329123-171994470	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	esv3512997	chr1:171329123-171994470	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	nsv465639	chr1:171459507-171545051	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv548190	chr1:171459507-171545051	Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 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	chr1:171475800-171524400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:171476000-171498800	Weak transcription	Fetal Heart	heart
3	chr1:171481000-171528000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr1:171481200-171518800	Strong transcription	HUES64 Cell Line	embryonic stem cell
5	chr1:171481200-171519200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr1:171481200-171519600	Strong transcription	Dnd41	blood
7	chr1:171481200-171520000	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr1:171481200-171522400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr1:171481400-171519200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:171481400-171519800	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr1:171481400-171520000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr1:171481400-171522800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
13	chr1:171481600-171519200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr1:171481600-171520600	Strong transcription	Primary T cells fromperipheralblood	blood
15	chr1:171481800-171520000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
16	chr1:171481800-171520600	Strong transcription	Placenta	Placenta
17	chr1:171482000-171519800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr1:171482000-171520000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
19	chr1:171482000-171520400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr1:171482000-171520400	Strong transcription	Rectal Mucosa Donor 31	rectum
21	chr1:171482000-171522000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr1:171482000-171523000	Strong transcription	Primary T helper cells fromperipheralblood	blood
23	chr1:171482000-171524400	Strong transcription	HUES6 Cell Line	embryonic stem cell
24	chr1:171482200-171506400	Strong transcription	Primary neutrophils fromperipheralblood	blood
25	chr1:171482200-171508200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr1:171482200-171512000	Strong transcription	Primary T cells from cord blood	blood
27	chr1:171482200-171518400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr1:171482200-171519200	Strong transcription	HUES48 Cell Line	embryonic stem cell
29	chr1:171482200-171520000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr1:171482200-171520000	Strong transcription	Rectal Mucosa Donor 29	rectum
31	chr1:171482200-171520400	Strong transcription	Duodenum Mucosa	Duodenum
32	chr1:171482200-171520600	Strong transcription	Primary T helper cells PMA-I stimulated	--
33	chr1:171482200-171520600	Strong transcription	Fetal Thymus	thymus
34	chr1:171482200-171541800	Strong transcription	Primary B cells from peripheral blood	blood
35	chr1:171482400-171503200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr1:171482400-171520000	Strong transcription	Liver	Liver
37	chr1:171482400-171520400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr1:171482600-171520600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr1:171483200-171505800	Strong transcription	Fetal Muscle Leg	muscle
40	chr1:171483200-171513800	Strong transcription	Fetal Muscle Trunk	muscle
41	chr1:171483200-171520400	Strong transcription	Primary T helper naive cells from peripheral blood	blood
42	chr1:171483200-171520600	Strong transcription	H1 Cell Line	embryonic stem cell
43	chr1:171483600-171503400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr1:171483600-171513200	Strong transcription	Skeletal Muscle Female	skeletal muscle
45	chr1:171483600-171520400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr1:171483800-171501800	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr1:171485200-171513800	Strong transcription	Fetal Intestine Large	intestine
48	chr1:171486800-171509200	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr1:171489800-171502600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr1:171490400-171502600	Strong transcription	Cortex derived primary cultured neurospheres	brain

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