Variant report

Variant	rs74105265
Chromosome Location	chr1:98058613-98058614
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:98055252..98058071-chr1:98058495..98060527,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10783061	1.00[EUR][1000 genomes]
rs11165851	1.00[EUR][1000 genomes]
rs11804848	1.00[EUR][1000 genomes]
rs11810136	1.00[EUR][1000 genomes]
rs1333722	1.00[EUR][1000 genomes]
rs17116923	1.00[EUR][1000 genomes]
rs17116940	1.00[EUR][1000 genomes]
rs17116949	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17116954	1.00[AFR][1000 genomes]
rs17116957	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17116962	1.00[EUR][1000 genomes]
rs17117047	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs35728010	1.00[EUR][1000 genomes]
rs4949950	1.00[EUR][1000 genomes]
rs74105274	0.91[AFR][1000 genomes]
rs74105297	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74105460	1.00[EUR][1000 genomes]
rs74107712	1.00[EUR][1000 genomes]
rs74108308	0.85[AFR][1000 genomes]
rs74108405	1.00[EUR][1000 genomes]
rs7414298	1.00[EUR][1000 genomes]
rs7521567	1.00[EUR][1000 genomes]
rs7546038	1.00[EUR][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	nsv830703	chr1:97907708-98101144	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv546866	chr1:98003908-98078993	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	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

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:97998600-98063800	Weak transcription	Right Ventricle	heart
2	chr1:97999400-98064600	Weak transcription	Psoas Muscle	Psoas
3	chr1:97999400-98074000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr1:98001200-98062400	Weak transcription	Fetal Lung	lung
5	chr1:98002000-98069400	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr1:98002800-98058800	Weak transcription	Gastric	stomach
7	chr1:98007800-98075800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:98009800-98076800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr1:98009800-98112200	Weak transcription	HSMM	muscle
10	chr1:98013600-98058800	Weak transcription	Esophagus	oesophagus
11	chr1:98015200-98062000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr1:98020000-98059000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr1:98020000-98060600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr1:98036800-98064400	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr1:98037200-98060600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr1:98037600-98059800	Weak transcription	Fetal Thymus	thymus
17	chr1:98039600-98060400	Weak transcription	Duodenum Mucosa	Duodenum
18	chr1:98041800-98074000	Weak transcription	Aorta	Aorta
19	chr1:98047600-98069000	Weak transcription	NHDF-Ad	bronchial
20	chr1:98047800-98060200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr1:98048000-98069400	Weak transcription	NHLF	lung
22	chr1:98050000-98060800	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr1:98050200-98060800	Weak transcription	Rectal Smooth Muscle	rectum
24	chr1:98050600-98060800	Strong transcription	Liver	Liver
25	chr1:98050600-98061200	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr1:98051600-98060200	Weak transcription	Fetal Stomach	stomach
27	chr1:98051600-98076600	Weak transcription	Spleen	Spleen
28	chr1:98051800-98096000	Weak transcription	Left Ventricle	heart
29	chr1:98052200-98059400	Strong transcription	Primary T cells fromperipheralblood	blood
30	chr1:98052800-98058800	Weak transcription	Brain Anterior Caudate	brain
31	chr1:98053000-98060800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr1:98053000-98061800	Weak transcription	Brain Hippocampus Middle	brain
33	chr1:98053600-98060000	Strong transcription	Primary hematopoietic stem cells	blood
34	chr1:98053800-98060800	Strong transcription	Primary neutrophils fromperipheralblood	blood
35	chr1:98053800-98060800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr1:98054000-98059200	Strong transcription	Adipose Nuclei	Adipose
37	chr1:98054000-98059600	Strong transcription	Primary B cells from cord blood	blood
38	chr1:98054000-98060400	Weak transcription	Primary B cells from peripheral blood	blood
39	chr1:98054000-98060800	Strong transcription	Primary T helper cells fromperipheralblood	blood
40	chr1:98054000-98069000	Weak transcription	Brain Substantia Nigra	brain
41	chr1:98054200-98060600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr1:98054400-98059000	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr1:98054600-98059000	Strong transcription	Duodenum Smooth Muscle	Duodenum
44	chr1:98055000-98058800	Weak transcription	Ovary	ovary
45	chr1:98055000-98060400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr1:98055200-98065200	Weak transcription	Lung	lung
47	chr1:98055400-98059200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr1:98055800-98060400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr1:98056200-98060800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr1:98056400-98060800	Strong transcription	Primary T helper cells PMA-I stimulated	--

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