Variant report

Variant	rs12057205
Chromosome Location	chr1:98145213-98145214
allele	A/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:98139213..98141128-chr1:98143534..98146360,2	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11165903	0.95[AFR][1000 genomes]
rs12071499	1.00[AFR][1000 genomes]
rs12094393	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491816	chr1:97266403-98223619	Enhancers Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv533039	chr1:97665736-98343102	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv530049	chr1:97883261-98384614	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv830714	chr1:98025090-98229416	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
5	nsv1012958	chr1:98081528-98864746	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
6	nsv2010	chr1:98123116-98167426	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:98114200-98159000	Weak transcription	NHDF-Ad	bronchial
2	chr1:98125600-98159400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr1:98127000-98152600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr1:98130800-98146400	Weak transcription	Fetal Intestine Small	intestine
5	chr1:98130800-98171800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr1:98132200-98150200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr1:98132200-98152800	Weak transcription	Fetal Lung	lung
8	chr1:98134200-98158600	Weak transcription	Stomach Smooth Muscle	stomach
9	chr1:98135000-98152600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr1:98135600-98159000	Weak transcription	Colon Smooth Muscle	Colon
11	chr1:98135800-98147400	Weak transcription	Primary B cells from cord blood	blood
12	chr1:98136000-98146600	Weak transcription	Right Ventricle	heart
13	chr1:98136200-98149600	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr1:98136200-98161000	Weak transcription	Lung	lung
15	chr1:98136200-98188800	Weak transcription	Left Ventricle	heart
16	chr1:98136600-98162800	Weak transcription	Esophagus	oesophagus
17	chr1:98139600-98148000	Strong transcription	Dnd41	blood
18	chr1:98140600-98148000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr1:98140600-98159000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr1:98140800-98147600	Weak transcription	Brain Cingulate Gyrus	brain
21	chr1:98141000-98148600	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr1:98141200-98165000	Weak transcription	HSMM	muscle
23	chr1:98141600-98148200	Strong transcription	Primary T cells from cord blood	blood
24	chr1:98141600-98149600	Strong transcription	Primary monocytes fromperipheralblood	blood
25	chr1:98141600-98165800	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr1:98141800-98145400	Weak transcription	Hela-S3	cervix
27	chr1:98141800-98148200	Strong transcription	Liver	Liver
28	chr1:98141800-98166000	Weak transcription	Brain Hippocampus Middle	brain
29	chr1:98141800-98185400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr1:98142200-98146400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr1:98142400-98145400	Weak transcription	HMEC	breast
32	chr1:98142400-98161200	Weak transcription	Aorta	Aorta
33	chr1:98142600-98146600	Weak transcription	Psoas Muscle	Psoas
34	chr1:98142800-98155200	Weak transcription	Brain Angular Gyrus	brain
35	chr1:98143000-98146400	Strong transcription	Primary T cells fromperipheralblood	blood
36	chr1:98143000-98159000	Weak transcription	Thymus	Thymus
37	chr1:98143200-98158600	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr1:98143600-98153400	Weak transcription	Pancreas	Pancrea
39	chr1:98143600-98165800	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr1:98143800-98146800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr1:98144000-98153000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr1:98144000-98161200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr1:98144000-98165400	Weak transcription	Brain Substantia Nigra	brain
44	chr1:98144000-98176600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr1:98144200-98146400	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr1:98144200-98147800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr1:98144200-98151000	Weak transcription	Primary hematopoietic stem cells	blood
48	chr1:98144200-98152600	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr1:98144200-98152600	Weak transcription	Ovary	ovary
50	chr1:98144200-98153000	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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