Variant report

Variant	rs1290041
Chromosome Location	chr14:70194238-70194239
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:70076993..70079854-chr14:70193916..70195796,2	K562	blood:
2	chr14:70193717..70196360-chr14:70274467..70276382,2	MCF-7	breast:
3	chr14:70078354..70079913-chr14:70192981..70195416,2	K562	blood:
4	chr14:70193435..70195061-chr14:70232589..70234499,2	K562	blood:
5	chr14:70076119..70078735-chr14:70193171..70195049,2	MCF-7	breast:
6	chr14:70193520..70195047-chr14:70270485..70272012,2	MCF-7	breast:
7	chr14:70193807..70196140-chr14:70232599..70234319,2	K562	blood:

Variant related genes	Relation type
ENSG00000221060	Chromatin interaction
ENSG00000100650	Chromatin interaction
ENSG00000100647	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10149246	0.83[EUR][1000 genomes]
rs1275745	0.91[AFR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1275746	0.91[AFR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1275817	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1275823	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1295826	0.91[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs1295827	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17107161	0.83[ASN][1000 genomes]
rs1743379	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1999722	0.91[AFR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2210803	0.91[AFR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2766462	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2766466	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2783515	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34686932	0.91[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs4902745	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs60716885	0.91[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs61980729	0.91[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs61980730	0.91[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs6573900	0.91[AFR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7157093	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs945308	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs945309	0.91[AFR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs945310	0.91[AFR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs945312	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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:50 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70192400-70195400	Enhancers	Fetal Muscle Leg	muscle
2	chr14:70193200-70194600	Enhancers	Fetal Stomach	stomach
3	chr14:70193200-70195000	Enhancers	Lung	lung
4	chr14:70193400-70194400	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr14:70193400-70194400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr14:70193400-70194400	Enhancers	Primary T killer memory cells from peripheral blood	blood
7	chr14:70193400-70194400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr14:70193400-70194400	Flanking Active TSS	Adipose Nuclei	Adipose
9	chr14:70193400-70194400	Enhancers	Placenta Amnion	Placenta Amnion
10	chr14:70193400-70194400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
11	chr14:70193400-70194400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
12	chr14:70193800-70195600	Weak transcription	Left Ventricle	heart
13	chr14:70194000-70194400	Enhancers	Primary B cells from peripheral blood	blood
14	chr14:70194000-70194400	Enhancers	Primary T cells fromperipheralblood	blood
15	chr14:70194000-70194400	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr14:70194000-70194400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr14:70194000-70194400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr14:70194000-70194600	Enhancers	Fetal Thymus	thymus
19	chr14:70194000-70194800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr14:70194000-70195000	Enhancers	Fetal Muscle Trunk	muscle
21	chr14:70194000-70195000	Enhancers	Spleen	Spleen
22	chr14:70194000-70196000	Enhancers	HUVEC	blood vessel
23	chr14:70194000-70196600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
24	chr14:70194000-70196800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr14:70194000-70199200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr14:70194200-70194400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
27	chr14:70194200-70194400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr14:70194200-70194400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr14:70194200-70194400	Enhancers	Primary T helper cells PMA-I stimulated	--
30	chr14:70194200-70194400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr14:70194200-70194400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr14:70194200-70194400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr14:70194200-70194400	Enhancers	Brain Hippocampus Middle	brain
34	chr14:70194200-70194400	Enhancers	Brain Inferior Temporal Lobe	brain
35	chr14:70194200-70194400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
36	chr14:70194200-70194400	Enhancers	Duodenum Mucosa	Duodenum
37	chr14:70194200-70194400	Active TSS	Stomach Smooth Muscle	stomach
38	chr14:70194200-70194400	Enhancers	Hela-S3	cervix
39	chr14:70194200-70194600	Enhancers	Colonic Mucosa	Colon
40	chr14:70194200-70194600	Flanking Bivalent TSS/Enh	HepG2	liver
41	chr14:70194200-70194800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr14:70194200-70195000	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr14:70194200-70195000	Enhancers	Skeletal Muscle Female	skeletal muscle
44	chr14:70194200-70195200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr14:70194200-70195400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr14:70194200-70195400	Weak transcription	K562	blood
47	chr14:70194200-70195800	Weak transcription	Small Intestine	intestine
48	chr14:70194200-70197600	Weak transcription	Liver	Liver
49	chr14:70194200-70197800	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr14:70194200-70200400	Weak transcription	Esophagus	oesophagus

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