Variant report

Variant	rs1275741
Chromosome Location	chr14:70112948-70112949
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:70110747..70113182-chr14:70129071..70131111,2	MCF-7	breast:
2	chr14:70111658..70113188-chr14:70123507..70126017,2	MCF-7	breast:
3	chr14:70075878..70078294-chr14:70112470..70114213,2	K562	blood:
4	chr14:70110578..70113027-chr14:70121882..70124631,2	K562	blood:
5	chr14:70075910..70078866-chr14:70112750..70114338,2	MCF-7	breast:
6	chr14:70110323..70113249-chr14:70160948..70165525,4	K562	blood:
7	chr14:70049075..70051914-chr14:70112777..70114742,2	K562	blood:
8	chr14:70104798..70107619-chr14:70112192..70114043,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000100647	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10151991	0.81[AFR][1000 genomes]
rs11158811	0.94[AFR][1000 genomes]
rs11624394	0.81[AFR][1000 genomes]
rs1275743	1.00[AFR][1000 genomes]
rs1275818	0.94[AFR][1000 genomes]
rs1275819	0.94[AFR][1000 genomes]
rs1275820	0.94[AFR][1000 genomes]
rs1275821	0.94[AFR][1000 genomes]
rs1275822	0.88[AFR][1000 genomes]
rs1957366	0.94[AFR][1000 genomes]
rs2181051	1.00[AFR][1000 genomes]
rs2208653	0.94[AFR][1000 genomes]
rs4899307	0.82[AFR][1000 genomes]
rs4902729	0.81[AFR][1000 genomes]
rs4902731	0.81[AFR][1000 genomes]
rs4902740	0.88[AFR][1000 genomes]
rs6573891	0.81[AFR][1000 genomes]
rs762050	0.94[AFR][1000 genomes]
rs8018613	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049280	chr14:70036804-70172630	Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv542124	chr14:70036804-70172630	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv456336	chr14:70081956-70574149	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
4	nsv565007	chr14:70081956-70574149	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70104800-70125600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr14:70105000-70113800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr14:70105200-70115400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr14:70105400-70114000	Weak transcription	Fetal Stomach	stomach
5	chr14:70105600-70115600	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr14:70105800-70113800	Weak transcription	Osteobl	bone
7	chr14:70105800-70114600	Weak transcription	Placenta	Placenta
8	chr14:70105800-70115600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr14:70106200-70113200	ZNF genes & repeats	GM12878-XiMat	blood
10	chr14:70106600-70115000	Weak transcription	Fetal Kidney	kidney
11	chr14:70108000-70113800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr14:70108200-70114000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr14:70108400-70121200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr14:70109000-70114600	Weak transcription	Fetal Muscle Trunk	muscle
15	chr14:70109000-70121400	Enhancers	Stomach Mucosa	stomach
16	chr14:70109400-70115400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr14:70109400-70121200	Enhancers	Small Intestine	intestine
18	chr14:70109600-70113000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr14:70109600-70113000	Enhancers	Pancreatic Islets	Pancreatic Islet
20	chr14:70109600-70113000	Enhancers	Sigmoid Colon	Sigmoid Colon
21	chr14:70109600-70121200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
22	chr14:70109800-70115200	Weak transcription	Fetal Thymus	thymus
23	chr14:70109800-70125400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr14:70110000-70115200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr14:70110000-70122800	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr14:70110200-70113800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr14:70110200-70121400	Enhancers	Primary T helper cells PMA-I stimulated	--
28	chr14:70110400-70113600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr14:70110400-70113800	Weak transcription	NHLF	lung
30	chr14:70110400-70114000	Weak transcription	Gastric	stomach
31	chr14:70110400-70114000	Weak transcription	Lung	lung
32	chr14:70110400-70114800	Weak transcription	Brain Cingulate Gyrus	brain
33	chr14:70110400-70115200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr14:70110400-70115200	Weak transcription	Thymus	Thymus
35	chr14:70110400-70115400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr14:70110400-70116000	Weak transcription	Esophagus	oesophagus
37	chr14:70110400-70121400	Enhancers	Primary B cells from peripheral blood	blood
38	chr14:70110400-70124600	Weak transcription	Fetal Brain Female	brain
39	chr14:70110600-70113800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr14:70110600-70113800	Weak transcription	HSMMtube	muscle
41	chr14:70110600-70113800	Weak transcription	NH-A	brain
42	chr14:70110600-70114000	Weak transcription	Brain Substantia Nigra	brain
43	chr14:70110600-70114000	Weak transcription	Fetal Muscle Leg	muscle
44	chr14:70110600-70114000	Weak transcription	HUVEC	blood vessel
45	chr14:70110600-70115000	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr14:70110600-70115000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr14:70110600-70115400	Weak transcription	Aorta	Aorta
48	chr14:70110800-70113000	Weak transcription	Colon Smooth Muscle	Colon
49	chr14:70110800-70113800	Weak transcription	A549	lung
50	chr14:70110800-70113800	Weak transcription	HSMM	muscle

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