Variant report

Variant	rs1957367
Chromosome Location	chr14:70107734-70107735
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	chr14:70077144..70079517-chr14:70106099..70109030,2	MCF-7	breast:
2	chr14:70093321..70095778-chr14:70107499..70109457,2	MCF-7	breast:
3	chr14:70101474..70104313-chr14:70104673..70108475,3	K562	blood:
4	chr14:70106414..70108074-chr14:70216231..70218583,2	K562	blood:
5	chr14:70106221..70108070-chr14:70109431..70111866,2	K562	blood:
6	chr14:70107632..70111411-chr14:70113640..70118051,5	MCF-7	breast:
7	chr14:70101993..70106597-chr14:70107643..70110243,6	MCF-7	breast:
8	chr14:70105984..70107760-chr14:70157737..70159410,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000100647	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs11844465	1.00[EUR][1000 genomes]
rs11845658	1.00[EUR][1000 genomes]
rs11849924	1.00[EUR][1000 genomes]
rs12100899	0.81[ASW][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1803419	1.00[EUR][1000 genomes]
rs55959724	1.00[EUR][1000 genomes]
rs56051240	1.00[EUR][1000 genomes]
rs56808476	1.00[EUR][1000 genomes]
rs56859443	1.00[EUR][1000 genomes]
rs57781039	1.00[EUR][1000 genomes]
rs58053579	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58140746	1.00[EUR][1000 genomes]
rs58503693	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58583730	1.00[EUR][1000 genomes]
rs60085780	1.00[EUR][1000 genomes]
rs60835679	1.00[EUR][1000 genomes]
rs61498582	1.00[EUR][1000 genomes]
rs61734222	1.00[EUR][1000 genomes]
rs61745930	1.00[EUR][1000 genomes]
rs7144597	1.00[MKK][hapmap];0.86[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74060205	1.00[EUR][1000 genomes]
rs74060220	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74060234	1.00[EUR][1000 genomes]
rs74060251	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74060252	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74060256	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74060258	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74060261	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74060263	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74060267	1.00[EUR][1000 genomes]
rs74060270	1.00[EUR][1000 genomes]
rs74060281	1.00[EUR][1000 genomes]
rs74060283	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74060286	1.00[EUR][1000 genomes]
rs74060294	1.00[EUR][1000 genomes]
rs74060297	1.00[EUR][1000 genomes]
rs74061847	1.00[EUR][1000 genomes]
rs74061848	1.00[EUR][1000 genomes]
rs74061850	1.00[EUR][1000 genomes]
rs74061851	1.00[EUR][1000 genomes]
rs74061853	1.00[EUR][1000 genomes]
rs74061856	1.00[EUR][1000 genomes]
rs74061857	1.00[EUR][1000 genomes]
rs74061864	1.00[EUR][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:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70104800-70125600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr14:70105000-70108000	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr14:70105000-70113800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr14:70105200-70109600	Weak transcription	Hela-S3	cervix
5	chr14:70105200-70115400	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr14:70105400-70109800	Weak transcription	Rectal Smooth Muscle	rectum
7	chr14:70105400-70114000	Weak transcription	Fetal Stomach	stomach
8	chr14:70105600-70109400	Weak transcription	Right Ventricle	heart
9	chr14:70105600-70111400	Weak transcription	Fetal Lung	lung
10	chr14:70105600-70115600	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr14:70105800-70107800	Weak transcription	Fetal Heart	heart
12	chr14:70105800-70109400	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr14:70105800-70109600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr14:70105800-70109600	Weak transcription	Brain Angular Gyrus	brain
15	chr14:70105800-70109600	Weak transcription	Colon Smooth Muscle	Colon
16	chr14:70105800-70110000	Weak transcription	NH-A	brain
17	chr14:70105800-70110000	Weak transcription	NHLF	lung
18	chr14:70105800-70110200	Weak transcription	Aorta	Aorta
19	chr14:70105800-70113800	Weak transcription	Osteobl	bone
20	chr14:70105800-70114600	Weak transcription	Placenta	Placenta
21	chr14:70105800-70115600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr14:70106200-70113200	ZNF genes & repeats	GM12878-XiMat	blood
23	chr14:70106400-70107800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr14:70106400-70108800	Weak transcription	Thymus	Thymus
25	chr14:70106400-70109400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr14:70106400-70109600	Weak transcription	Adipose Nuclei	Adipose
27	chr14:70106400-70109600	Weak transcription	Liver	Liver
28	chr14:70106400-70109600	Weak transcription	HMEC	breast
29	chr14:70106400-70109800	Weak transcription	Colonic Mucosa	Colon
30	chr14:70106400-70109800	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr14:70106400-70109800	Weak transcription	Stomach Smooth Muscle	stomach
32	chr14:70106600-70107800	Weak transcription	Duodenum Mucosa	Duodenum
33	chr14:70106600-70107800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr14:70106600-70109000	Weak transcription	Right Atrium	heart
35	chr14:70106600-70109400	Weak transcription	Gastric	stomach
36	chr14:70106600-70109400	Weak transcription	Lung	lung
37	chr14:70106600-70109400	Weak transcription	Pancreas	Pancrea
38	chr14:70106600-70109400	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr14:70106600-70109600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr14:70106600-70109600	Weak transcription	Esophagus	oesophagus
41	chr14:70106600-70109600	Weak transcription	Psoas Muscle	Psoas
42	chr14:70106600-70109800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr14:70106600-70110200	Weak transcription	Brain Substantia Nigra	brain
44	chr14:70106600-70110200	Weak transcription	Spleen	Spleen
45	chr14:70106600-70115000	Weak transcription	Fetal Kidney	kidney
46	chr14:70106800-70109000	Weak transcription	Stomach Mucosa	stomach
47	chr14:70106800-70109400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr14:70106800-70109400	Weak transcription	Small Intestine	intestine
49	chr14:70107000-70107800	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr14:70107000-70107800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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