Variant report

Variant	rs4749193
Chromosome Location	chr10:27149422-27149423
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:26986066..26987689-chr10:27148181..27149962,2	K562	blood:
2	chr10:27147900..27149546-chr10:27169189..27171150,2	MCF-7	breast:
3	chr10:27032167..27034372-chr10:27147894..27149517,2	K562	blood:
4	chr10:26986021..26987940-chr10:27149008..27151636,2	MCF-7	breast:
5	chr10:27023145..27024775-chr10:27148207..27150009,2	MCF-7	breast:
6	chr10:26985323..26988042-chr10:27148387..27150466,3	MCF-7	breast:
7	chr10:26985918..26987566-chr10:27148462..27151237,2	K562	blood:

Variant related genes	Relation type
ENSG00000148459	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11015316	0.83[EUR][1000 genomes]
rs11813623	0.89[EUR][1000 genomes]
rs12220354	0.86[EUR][1000 genomes]
rs17816641	0.83[EUR][1000 genomes]
rs4749188	0.83[EUR][1000 genomes]
rs4749190	0.83[EUR][1000 genomes]
rs4749194	0.84[EUR][1000 genomes]
rs7910986	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	esv3415799	chr10:26929831-27233591	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv831812	chr10:27061506-27234267	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv971858	chr10:27066006-27157708	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:27146400-27150400	Active TSS	GM12878-XiMat	blood
2	chr10:27147000-27150400	Active TSS	Right Ventricle	heart
3	chr10:27147000-27150600	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr10:27147000-27150800	Active TSS	Thymus	Thymus
5	chr10:27147200-27150400	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr10:27147200-27150400	Active TSS	HSMMtube	muscle
7	chr10:27147200-27150400	Active TSS	NHLF	lung
8	chr10:27147400-27149800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr10:27147400-27150000	Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr10:27147400-27150000	Active TSS	Breast Myoepithelial Primary Cells	Breast
11	chr10:27147400-27150000	Active TSS	Hela-S3	cervix
12	chr10:27147400-27150400	Active TSS	HUES48 Cell Line	embryonic stem cell
13	chr10:27147400-27150400	Active TSS	K562	blood
14	chr10:27147400-27150600	Active TSS	Psoas Muscle	Psoas
15	chr10:27147400-27150600	Active TSS	Right Atrium	heart
16	chr10:27147400-27150600	Active TSS	Stomach Smooth Muscle	stomach
17	chr10:27147400-27150600	Active TSS	A549	lung
18	chr10:27147400-27151000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr10:27147600-27150000	Active TSS	Ovary	ovary
20	chr10:27147600-27150200	Active TSS	Primary T cells fromperipheralblood	blood
21	chr10:27147600-27150200	Active TSS	NHEK	skin
22	chr10:27147600-27150400	Active TSS	HMEC	breast
23	chr10:27147600-27150800	Active TSS	Brain Angular Gyrus	brain
24	chr10:27147800-27150000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr10:27147800-27150000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr10:27147800-27150000	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
27	chr10:27147800-27150000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr10:27147800-27150000	Active TSS	Fetal Thymus	thymus
29	chr10:27147800-27150400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr10:27147800-27150400	Active TSS	Fetal Brain Male	brain
31	chr10:27147800-27150400	Active TSS	NHDF-Ad	bronchial
32	chr10:27147800-27150600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr10:27147800-27150600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr10:27147800-27150600	Active TSS	Brain Inferior Temporal Lobe	brain
35	chr10:27147800-27150600	Active TSS	Colonic Mucosa	Colon
36	chr10:27147800-27150600	Active TSS	Fetal Lung	lung
37	chr10:27147800-27150600	Active TSS	Fetal Stomach	stomach
38	chr10:27148000-27150000	Active TSS	H1 Cell Line	embryonic stem cell
39	chr10:27148000-27150000	Active TSS	Primary T killer memory cells from peripheral blood	blood
40	chr10:27148000-27150000	Active TSS	HSMM	muscle
41	chr10:27148000-27150200	Active TSS	Muscle Satellite Cultured Cells	--
42	chr10:27148000-27150200	Active TSS	Rectal Mucosa Donor 31	rectum
43	chr10:27148000-27150400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr10:27148000-27150400	Active TSS	Cortex derived primary cultured neurospheres	brain
45	chr10:27148000-27150400	Active TSS	Brain Cingulate Gyrus	brain
46	chr10:27148000-27150400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
47	chr10:27148000-27150400	Active TSS	Fetal Intestine Large	intestine
48	chr10:27148000-27150400	Active TSS	HepG2	liver
49	chr10:27148000-27150600	Active TSS	Rectal Smooth Muscle	rectum
50	chr10:27148000-27150600	Active TSS	Skeletal Muscle Female	skeletal muscle

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