Variant report

Variant	rs61130025
Chromosome Location	chr14:70156079-70156080
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:70129166..70132900-chr14:70155782..70158446,3	K562	blood:
2	chr14:70078153..70079815-chr14:70156064..70158184,2	MCF-7	breast:
3	chr14:70155138..70156935-chr14:70161474..70163461,2	MCF-7	breast:
4	chr14:70130032..70132900-chr14:70156054..70158446,2	K562	blood:

Variant related genes	Relation type
ENSG00000100647	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11848277	1.00[EUR][1000 genomes]
rs28456261	1.00[EUR][1000 genomes]
rs28468655	1.00[EUR][1000 genomes]
rs28767840	1.00[EUR][1000 genomes]
rs73281568	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8022592	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:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70148400-70156800	Enhancers	HepG2	liver
2	chr14:70148800-70156600	Enhancers	Brain Inferior Temporal Lobe	brain
3	chr14:70149200-70156200	Enhancers	Brain Hippocampus Middle	brain
4	chr14:70150200-70161000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr14:70150800-70159800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr14:70151600-70157800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr14:70152200-70156200	Enhancers	Brain Germinal Matrix	brain
8	chr14:70152200-70159800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr14:70152400-70156600	Weak transcription	Primary T cells from cord blood	blood
10	chr14:70152400-70156600	Weak transcription	Placenta	Placenta
11	chr14:70152400-70159600	Weak transcription	Aorta	Aorta
12	chr14:70152400-70159800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr14:70152600-70159400	Weak transcription	Colonic Mucosa	Colon
14	chr14:70152600-70159800	Weak transcription	NHLF	lung
15	chr14:70152800-70156400	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr14:70152800-70156400	Weak transcription	Fetal Stomach	stomach
17	chr14:70152800-70156800	Weak transcription	Spleen	Spleen
18	chr14:70152800-70158000	Weak transcription	Gastric	stomach
19	chr14:70152800-70158800	Weak transcription	Duodenum Mucosa	Duodenum
20	chr14:70152800-70158800	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr14:70152800-70159400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr14:70152800-70159600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr14:70152800-70159600	Weak transcription	Pancreas	Pancrea
24	chr14:70153000-70158800	Weak transcription	Liver	Liver
25	chr14:70153000-70158800	Weak transcription	Fetal Intestine Large	intestine
26	chr14:70153000-70158800	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr14:70153200-70157000	Weak transcription	Fetal Intestine Small	intestine
28	chr14:70153200-70159400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr14:70153400-70157200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr14:70153400-70157600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr14:70153400-70158800	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr14:70153400-70159200	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr14:70153400-70159400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr14:70153400-70159400	Weak transcription	Stomach Smooth Muscle	stomach
35	chr14:70153400-70159600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr14:70153600-70156600	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr14:70153600-70156800	Weak transcription	Rectal Smooth Muscle	rectum
38	chr14:70153600-70158400	Weak transcription	Small Intestine	intestine
39	chr14:70153600-70159800	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr14:70153600-70160400	Weak transcription	NHEK	skin
41	chr14:70153800-70160600	Weak transcription	HMEC	breast
42	chr14:70154200-70156200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr14:70154200-70156400	Weak transcription	Fetal Muscle Trunk	muscle
44	chr14:70154200-70156800	Enhancers	Fetal Heart	heart
45	chr14:70154800-70156600	Strong transcription	GM12878-XiMat	blood
46	chr14:70154800-70157000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr14:70154800-70157800	Strong transcription	Primary B cells from peripheral blood	blood
48	chr14:70155000-70158200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr14:70155000-70158400	Strong transcription	Primary B cells from cord blood	blood
50	chr14:70155200-70157000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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