Variant report

Variant	rs3753568
Chromosome Location	chr1:185200548-185200549
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:185192647..185194697-chr1:185200428..185202815,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs2273878	1.00[EUR][1000 genomes]
rs28597100	0.81[ASN][1000 genomes]
rs3753571	1.00[EUR][1000 genomes]
rs3753573	1.00[EUR][1000 genomes]
rs3820184	1.00[EUR][1000 genomes]
rs55738529	1.00[EUR][1000 genomes]
rs56691510	1.00[EUR][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	nsv1001323	chr1:184525419-185315876	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	nsv535222	chr1:184525419-185315876	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv548398	chr1:185136458-186003094	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:185127600-185218200	Weak transcription	Right Ventricle	heart
2	chr1:185128400-185201800	Weak transcription	Gastric	stomach
3	chr1:185138000-185204000	Weak transcription	Colon Smooth Muscle	Colon
4	chr1:185152200-185200800	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr1:185168000-185201800	Weak transcription	Primary T cells from cord blood	blood
6	chr1:185170800-185218200	Weak transcription	Pancreas	Pancrea
7	chr1:185174000-185207200	Weak transcription	NHDF-Ad	bronchial
8	chr1:185175600-185217000	Weak transcription	Fetal Stomach	stomach
9	chr1:185177800-185202600	Weak transcription	Fetal Kidney	kidney
10	chr1:185178400-185208600	Weak transcription	Small Intestine	intestine
11	chr1:185190200-185204200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr1:185190600-185201600	Weak transcription	Spleen	Spleen
13	chr1:185192200-185201400	Weak transcription	Brain Anterior Caudate	brain
14	chr1:185192400-185200600	Weak transcription	Primary B cells from peripheral blood	blood
15	chr1:185192400-185206200	Weak transcription	Brain Substantia Nigra	brain
16	chr1:185192400-185208200	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr1:185192400-185209000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr1:185192600-185204800	Weak transcription	Fetal Brain Female	brain
19	chr1:185192600-185205800	Weak transcription	Duodenum Mucosa	Duodenum
20	chr1:185192600-185207400	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr1:185192600-185218600	Weak transcription	Aorta	Aorta
22	chr1:185192600-185221000	Weak transcription	Fetal Intestine Small	intestine
23	chr1:185193200-185201600	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr1:185193200-185203200	Weak transcription	Placenta	Placenta
25	chr1:185193400-185200600	Weak transcription	Brain Cingulate Gyrus	brain
26	chr1:185193400-185201400	Weak transcription	Brain Germinal Matrix	brain
27	chr1:185193400-185208000	Weak transcription	Stomach Smooth Muscle	stomach
28	chr1:185193600-185200800	Weak transcription	Liver	Liver
29	chr1:185193600-185201600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr1:185193600-185201600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr1:185193600-185202200	Weak transcription	Primary B cells from cord blood	blood
32	chr1:185193600-185203800	Weak transcription	Fetal Intestine Large	intestine
33	chr1:185193600-185203800	Weak transcription	Fetal Muscle Leg	muscle
34	chr1:185193600-185204000	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr1:185193600-185208000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr1:185193600-185213200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr1:185193600-185213400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr1:185193600-185214600	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr1:185193600-185219200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr1:185193600-185219400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr1:185193800-185205200	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr1:185193800-185206200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr1:185193800-185206400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr1:185193800-185220400	Weak transcription	Brain Hippocampus Middle	brain
45	chr1:185193800-185263600	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr1:185194000-185218600	Weak transcription	Lung	lung
47	chr1:185194200-185202400	Weak transcription	Fetal Lung	lung
48	chr1:185194200-185213400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr1:185196600-185209200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr1:185197200-185218200	Weak transcription	Left Ventricle	heart

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