Variant report

Variant	rs4899660
Chromosome Location	chr14:78071793-78071794
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:78068423..78071899-chr14:78079739..78082860,4	K562	blood:
2	chr14:78069363..78073512-chr14:78081398..78084592,5	MCF-7	breast:
3	chr14:78063987..78068208-chr14:78069326..78072935,4	MCF-7	breast:
4	chr14:78070489..78072668-chr14:78077080..78079522,2	MCF-7	breast:
5	chr14:78071276..78074499-chr14:78074506..78077837,3	K562	blood:

Variant related genes	Relation type
ENSG00000100596	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10129280	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10137398	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10139059	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10146161	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10873309	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11624561	0.81[ASN][1000 genomes]
rs11626349	0.81[ASN][1000 genomes]
rs12887526	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1861942	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2267746	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2267747	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2267748	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2267749	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2267750	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2267754	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2299921	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2299923	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2299924	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2299925	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2299928	0.96[ASN][1000 genomes]
rs4899661	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4903614	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7151742	0.81[ASN][1000 genomes]
rs7157356	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8008258	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8021376	0.94[ASN][1000 genomes]
rs8021660	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832835	chr14:77906706-78095207	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv1053810	chr14:77987871-78148320	Genic enhancers Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv1051554	chr14:78004196-78122980	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:78051600-78072600	Weak transcription	Psoas Muscle	Psoas
2	chr14:78055000-78081600	Weak transcription	Right Ventricle	heart
3	chr14:78056600-78072800	Weak transcription	Placenta	Placenta
4	chr14:78057600-78081400	Weak transcription	Rectal Smooth Muscle	rectum
5	chr14:78062800-78075000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr14:78063200-78077800	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr14:78063400-78081600	Weak transcription	Fetal Stomach	stomach
8	chr14:78063800-78071800	Weak transcription	Fetal Lung	lung
9	chr14:78063800-78072000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr14:78063800-78074000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr14:78063800-78074200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr14:78065400-78071800	Weak transcription	Thymus	Thymus
13	chr14:78065600-78081400	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr14:78065800-78071800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr14:78066000-78079600	Weak transcription	Dnd41	blood
16	chr14:78066600-78074200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr14:78066800-78078400	Weak transcription	NHLF	lung
18	chr14:78067000-78078200	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr14:78067800-78075000	Enhancers	Stomach Mucosa	stomach
20	chr14:78068600-78073200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr14:78069000-78072800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr14:78069200-78072000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr14:78069200-78081600	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr14:78069600-78071800	Enhancers	Duodenum Mucosa	Duodenum
25	chr14:78069600-78072800	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr14:78069600-78072800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr14:78069800-78072000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr14:78070000-78072200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr14:78070000-78074200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr14:78070000-78075600	Enhancers	Rectal Mucosa Donor 31	rectum
31	chr14:78070200-78072000	Weak transcription	Primary T cells from cord blood	blood
32	chr14:78070200-78072000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr14:78070200-78072400	Enhancers	A549	lung
34	chr14:78070200-78073400	Enhancers	Small Intestine	intestine
35	chr14:78070200-78074000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr14:78070200-78074400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr14:78070200-78081600	Weak transcription	Liver	Liver
38	chr14:78070400-78072400	Weak transcription	Pancreas	Pancrea
39	chr14:78070400-78074200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr14:78070400-78074200	Enhancers	Primary hematopoietic stem cells	blood
41	chr14:78070400-78074200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr14:78070400-78075000	Enhancers	Primary T helper cells fromperipheralblood	blood
43	chr14:78070400-78075800	Weak transcription	Lung	lung
44	chr14:78070400-78078200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr14:78070400-78078400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr14:78070400-78079800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr14:78070400-78081400	Weak transcription	Fetal Muscle Leg	muscle
48	chr14:78070600-78071800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr14:78070600-78071800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr14:78070600-78071800	Weak transcription	Colonic Mucosa	Colon

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