Variant report

Variant	rs10220595
Chromosome Location	chr14:103863812-103863813
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:103863256..103865942-chr14:103868346..103872041,4	MCF-7	breast:
2	chr14:103804940..103815889-chr14:103850459..103863829,28	K562	blood:
3	chr14:103794753..103806137-chr14:103849038..103864103,36	MCF-7	breast:
4	chr14:103797262..103804754-chr14:103849003..103864058,49	MCF-7	breast:
5	chr14:103849131..103853013-chr14:103859929..103865676,7	MCF-7	breast:
6	chr14:103857593..103860875-chr14:103861625..103865157,4	MCF-7	breast:
7	chr14:103858689..103864179-chr14:103864270..103870415,8	K562	blood:

No data

Variant related genes	Relation type
ENSG00000272533	Chromatin interaction
ENSG00000259775	Chromatin interaction
ENSG00000100664	Chromatin interaction
ENSG00000075413	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10129401	1.00[AMR][1000 genomes]
rs10129621	1.00[AMR][1000 genomes]
rs10130887	1.00[AMR][1000 genomes]
rs10134819	1.00[AMR][1000 genomes]
rs10138787	1.00[AMR][1000 genomes]
rs10139205	1.00[AMR][1000 genomes]
rs10145934	1.00[AMR][1000 genomes]
rs10149860	1.00[AMR][1000 genomes]
rs12100454	1.00[AMR][1000 genomes]
rs28524598	1.00[AMR][1000 genomes]
rs28701683	1.00[AMR][1000 genomes]
rs28701880	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28711428	1.00[AMR][1000 genomes]
rs56324843	1.00[AMR][1000 genomes]
rs56666624	1.00[AMR][1000 genomes]
rs57987958	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58869129	1.00[AMR][1000 genomes]
rs61733762	1.00[AMR][1000 genomes]
rs7141712	1.00[AMR][1000 genomes]
rs7148427	1.00[AMR][1000 genomes]
rs7150651	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7155401	1.00[AMR][1000 genomes]
rs7158326	1.00[AMR][1000 genomes]
rs7158972	1.00[AMR][1000 genomes]
rs73353046	1.00[AMR][1000 genomes]
rs73359246	1.00[AMR][1000 genomes]
rs73359248	1.00[AMR][1000 genomes]
rs73359263	1.00[AMR][1000 genomes]
rs73359299	1.00[AMR][1000 genomes]
rs73359301	1.00[AMR][1000 genomes]
rs73361317	1.00[AMR][1000 genomes]
rs73361323	1.00[AMR][1000 genomes]
rs73361328	1.00[AMR][1000 genomes]
rs73361331	1.00[AMR][1000 genomes]
rs73361334	1.00[AMR][1000 genomes]
rs73361335	1.00[AMR][1000 genomes]
rs73361345	1.00[AMR][1000 genomes]
rs73361349	1.00[AMR][1000 genomes]
rs73365132	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8006030	1.00[AMR][1000 genomes]
rs8009277	1.00[AMR][1000 genomes]
rs8015505	1.00[AMR][1000 genomes]
rs879551	1.00[AMR][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	nsv1049747	chr14:103126148-103955984	Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	113 gene(s)	inside rSNPs	diseases
2	nsv534254	chr14:103470073-104023906	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
3	nsv9168	chr14:103531729-103913306	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
4	esv3332028	chr14:103581471-104328811	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
5	nsv542200	chr14:103838939-103868007	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:103853600-103864200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr14:103853800-103864400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr14:103853800-103867400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr14:103854800-103865200	Enhancers	Primary T cells fromperipheralblood	blood
5	chr14:103855000-103868000	Weak transcription	Fetal Stomach	stomach
6	chr14:103855000-103874800	Weak transcription	Fetal Brain Male	brain
7	chr14:103855200-103864200	Weak transcription	Fetal Kidney	kidney
8	chr14:103855200-103865000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr14:103855200-103871800	Weak transcription	Brain Germinal Matrix	brain
10	chr14:103856600-103871200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr14:103856600-103871600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr14:103857000-103871000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chr14:103858400-103865000	Enhancers	Pancreas	Pancrea
14	chr14:103858800-103864400	Weak transcription	Gastric	stomach
15	chr14:103858800-103871400	Weak transcription	Fetal Brain Female	brain
16	chr14:103859400-103866000	Enhancers	Primary T killer memory cells from peripheral blood	blood
17	chr14:103860400-103866200	Weak transcription	Lung	lung
18	chr14:103860400-103871400	Weak transcription	Fetal Muscle Trunk	muscle
19	chr14:103860800-103867600	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr14:103860800-103871400	Weak transcription	Fetal Intestine Large	intestine
21	chr14:103861000-103864200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr14:103861000-103864400	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr14:103861000-103864600	Weak transcription	Fetal Intestine Small	intestine
24	chr14:103861000-103864600	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr14:103861000-103865200	Enhancers	Left Ventricle	heart
26	chr14:103861000-103865600	Weak transcription	Primary hematopoietic stem cells	blood
27	chr14:103861000-103866200	Weak transcription	Spleen	Spleen
28	chr14:103861000-103866400	Weak transcription	Stomach Smooth Muscle	stomach
29	chr14:103861000-103866600	Weak transcription	Dnd41	blood
30	chr14:103861000-103867000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr14:103861000-103867800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr14:103861000-103867800	Weak transcription	Esophagus	oesophagus
33	chr14:103861000-103867800	Weak transcription	Fetal Muscle Leg	muscle
34	chr14:103861000-103874800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr14:103861000-103882400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr14:103861800-103864400	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr14:103862000-103864400	Weak transcription	HepG2	liver
38	chr14:103862000-103866400	Weak transcription	Fetal Thymus	thymus
39	chr14:103862000-103867600	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr14:103862000-103919400	Weak transcription	Colonic Mucosa	Colon
41	chr14:103862200-103865000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr14:103862400-103864200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr14:103862400-103864200	Weak transcription	NHEK	skin
44	chr14:103862400-103864400	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr14:103862400-103864400	Weak transcription	Primary monocytes fromperipheralblood	blood
46	chr14:103862400-103864400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr14:103862400-103864400	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr14:103862400-103864400	Weak transcription	Rectal Smooth Muscle	rectum
49	chr14:103862400-103864400	Weak transcription	NH-A	brain
50	chr14:103862400-103864400	Weak transcription	NHDF-Ad	bronchial

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