Variant report

Variant	rs9972106
Chromosome Location	chr14:66023131-66023132
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:66002294..66004964-chr14:66020886..66023654,2	MCF-7	breast:
2	chr14:66020277..66021956-chr14:66022391..66024795,2	MCF-7	breast:
3	chr14:66021842..66025531-chr14:66028043..66031703,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CHURC1-FNTB-4	chr14:66023128-66023280	ucscGeneNc_uc001xiv_2

Extended variants
information (count: 86 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs10138671	0.96[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10142283	0.85[CEU][hapmap]
rs10143206	0.89[CEU][hapmap]
rs10144979	0.85[CEU][hapmap]
rs10152007	0.89[CEU][hapmap]
rs10873191	0.89[CEU][hapmap]
rs1113962	0.85[CEU][hapmap]
rs11158595	0.89[CEU][hapmap]
rs11158603	0.88[CEU][hapmap]
rs11158605	0.81[CEU][hapmap]
rs11158607	0.82[CEU][hapmap]
rs1121885	0.89[CEU][hapmap]
rs11623662	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11844682	0.89[CEU][hapmap]
rs12433597	0.89[CEU][hapmap]
rs12587057	0.89[CEU][hapmap]
rs12885842	0.81[CEU][hapmap];0.85[YRI][hapmap]
rs12895401	0.89[EUR][1000 genomes]
rs1889731	0.89[CEU][hapmap]
rs1953415	0.89[CEU][hapmap]
rs1953418	0.89[CEU][hapmap]
rs1958559	0.93[CEU][hapmap];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1958560	0.93[CEU][hapmap];0.89[EUR][1000 genomes]
rs1959144	0.85[CEU][hapmap]
rs1959145	0.96[ASN][1000 genomes]
rs1999725	0.81[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.90[ASN][1000 genomes]
rs2064695	0.96[CEU][hapmap];0.90[EUR][1000 genomes]
rs2092914	0.84[CEU][hapmap]
rs2183277	0.89[CEU][hapmap]
rs2184601	0.85[CEU][hapmap]
rs2210805	0.84[CEU][hapmap]
rs2268955	0.93[CEU][hapmap]
rs2268956	0.89[CEU][hapmap]
rs2411356	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2411815	0.89[CEU][hapmap]
rs2411820	0.85[CEU][hapmap]
rs2411823	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2898814	0.85[CEU][hapmap]
rs2898818	0.89[CEU][hapmap]
rs3825639	0.89[CEU][hapmap]
rs4359350	0.84[ASN][1000 genomes]
rs4587890	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4899178	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4902399	0.89[CEU][hapmap]
rs4902404	0.89[CEU][hapmap]
rs6573609	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6573611	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6573615	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6573616	0.89[CEU][hapmap]
rs7140341	0.88[CEU][hapmap]
rs7140695	0.84[CEU][hapmap]
rs7141536	0.84[CEU][hapmap]
rs7142906	0.93[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs7144345	0.89[CEU][hapmap]
rs7144415	0.83[ASN][1000 genomes]
rs7144971	0.89[CEU][hapmap]
rs7145500	0.84[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.84[ASN][1000 genomes]
rs7145759	0.85[CEU][hapmap]
rs7146993	0.89[CEU][hapmap]
rs7147002	0.89[CEU][hapmap]
rs7147536	0.81[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs7150448	0.85[CEU][hapmap]
rs7151561	0.85[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs7157109	0.85[CEU][hapmap]
rs7158153	0.87[CEU][hapmap]
rs7160780	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8007497	0.89[CEU][hapmap];0.80[EUR][1000 genomes]
rs8010726	0.84[CEU][hapmap]
rs8011224	0.85[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.97[ASN][1000 genomes]
rs8012834	0.96[ASN][1000 genomes]
rs8013442	0.84[ASN][1000 genomes]
rs8016322	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs8019762	0.89[CEU][hapmap]
rs8022053	0.83[ASN][1000 genomes]
rs8022080	0.97[ASN][1000 genomes]
rs9323461	0.89[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1036403	chr14:65724229-66208114	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
2	nsv1043943	chr14:65782466-66698411	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases
3	nsv542120	chr14:65782466-66698411	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases
4	nsv1039168	chr14:65811750-66308343	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS 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	35 gene(s)	inside rSNPs	diseases
5	esv3366524	chr14:65924360-66423862	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
6	nsv456327	chr14:65955517-66052901	Strong transcription Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv564951	chr14:65955517-66052901	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv832819	chr14:65957949-66106019	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv1045000	chr14:66010886-66372518	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv1042671	chr14:66010886-66399888	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65985000-66025200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr14:65995200-66028000	Weak transcription	Dnd41	blood
3	chr14:65995400-66061000	Weak transcription	Gastric	stomach
4	chr14:66002400-66028000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr14:66003000-66028000	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr14:66003400-66028200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr14:66003800-66041200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr14:66005400-66028400	Weak transcription	Primary hematopoietic stem cells	blood
9	chr14:66008600-66025800	Weak transcription	Primary T cells from cord blood	blood
10	chr14:66008600-66028000	Weak transcription	Primary B cells from cord blood	blood
11	chr14:66013200-66028200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr14:66015200-66033600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr14:66016000-66032800	Weak transcription	Small Intestine	intestine
14	chr14:66016000-66041400	Weak transcription	Ovary	ovary
15	chr14:66016600-66028000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr14:66016600-66033800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr14:66018200-66031600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr14:66018600-66027800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr14:66019400-66028200	Weak transcription	GM12878-XiMat	blood
20	chr14:66021200-66023200	Enhancers	Brain Hippocampus Middle	brain
21	chr14:66021200-66023400	Enhancers	Sigmoid Colon	Sigmoid Colon
22	chr14:66021400-66023600	Enhancers	Brain Cingulate Gyrus	brain
23	chr14:66021400-66046400	Weak transcription	Thymus	Thymus
24	chr14:66021800-66023200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr14:66021800-66023600	Enhancers	Brain Substantia Nigra	brain
26	chr14:66021800-66043000	Weak transcription	Fetal Intestine Small	intestine
27	chr14:66022000-66023200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr14:66022000-66023400	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr14:66022200-66023400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr14:66022200-66023800	Enhancers	Brain Inferior Temporal Lobe	brain
31	chr14:66022200-66024000	Enhancers	Colon Smooth Muscle	Colon
32	chr14:66022200-66025600	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr14:66022400-66026000	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr14:66022400-66026000	Weak transcription	Brain Angular Gyrus	brain
35	chr14:66022400-66028000	Weak transcription	Primary B cells from peripheral blood	blood
36	chr14:66022400-66028000	Weak transcription	Fetal Intestine Large	intestine
37	chr14:66022400-66033400	Weak transcription	Rectal Smooth Muscle	rectum
38	chr14:66022400-66042200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr14:66022400-66047800	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr14:66022400-66052400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr14:66022600-66025200	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr14:66022600-66026600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr14:66022800-66023200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr14:66022800-66023200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
45	chr14:66022800-66032800	Weak transcription	Adipose Nuclei	Adipose
46	chr14:66022800-66037000	Weak transcription	Stomach Mucosa	stomach
47	chr14:66023000-66023200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr14:66023000-66023200	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr14:66023000-66023200	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr14:66023000-66023200	Enhancers	Primary T cells fromperipheralblood	blood

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