Variant report

Variant	rs41280816
Chromosome Location	chr1:10322261-10322262
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:10319181..10322615-chr1:10327803..10330307,3	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs41274458	0.86[EUR][1000 genomes]
rs41274462	0.86[EUR][1000 genomes]
rs41274464	0.86[EUR][1000 genomes]
rs41274466	0.86[EUR][1000 genomes]
rs56164683	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757722	chr1:10238070-10582554	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	esv2758920	chr1:10238070-10582554	Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv545381	chr1:10296452-10423988	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv817370	chr1:10305470-10697150	Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv545382	chr1:10309026-10377221	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs41280816	LZIC	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10272600-10368200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:10307600-10340400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:10311000-10327600	Weak transcription	Aorta	Aorta
4	chr1:10311600-10331200	Weak transcription	Fetal Thymus	thymus
5	chr1:10312600-10327600	Weak transcription	HMEC	breast
6	chr1:10312800-10347200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr1:10313400-10327400	Weak transcription	Colonic Mucosa	Colon
8	chr1:10313800-10327600	Weak transcription	Right Atrium	heart
9	chr1:10314000-10323600	Weak transcription	Primary hematopoietic stem cells	blood
10	chr1:10314000-10331800	Weak transcription	K562	blood
11	chr1:10314200-10323600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr1:10314200-10356400	Weak transcription	Small Intestine	intestine
13	chr1:10314200-10363400	Weak transcription	Fetal Brain Male	brain
14	chr1:10314600-10327400	Weak transcription	Fetal Heart	heart
15	chr1:10314600-10332200	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr1:10314800-10347000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr1:10315000-10355600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr1:10315400-10327600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr1:10315400-10373400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr1:10316400-10337600	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr1:10316800-10380200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr1:10317000-10322600	Strong transcription	NH-A	brain
23	chr1:10317400-10322400	Weak transcription	Fetal Brain Female	brain
24	chr1:10317400-10324600	Strong transcription	HUVEC	blood vessel
25	chr1:10317400-10337600	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr1:10317400-10337600	Weak transcription	GM12878-XiMat	blood
27	chr1:10317400-10355200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr1:10317400-10356400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr1:10317600-10324600	Strong transcription	HUES48 Cell Line	embryonic stem cell
30	chr1:10317600-10325000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr1:10317600-10355600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr1:10317800-10323600	Weak transcription	A549	lung
33	chr1:10318000-10324600	Strong transcription	H1 Cell Line	embryonic stem cell
34	chr1:10318000-10334000	Strong transcription	Fetal Muscle Trunk	muscle
35	chr1:10318400-10323200	Weak transcription	Primary B cells from peripheral blood	blood
36	chr1:10318400-10367600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr1:10318600-10322400	Strong transcription	Fetal Intestine Large	intestine
38	chr1:10318600-10324600	Strong transcription	Liver	Liver
39	chr1:10318800-10329400	Strong transcription	Adipose Nuclei	Adipose
40	chr1:10318800-10334000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr1:10318800-10334600	Strong transcription	Fetal Muscle Leg	muscle
42	chr1:10319000-10325000	Strong transcription	Cortex derived primary cultured neurospheres	brain
43	chr1:10319200-10338000	Weak transcription	Primary B cells from cord blood	blood
44	chr1:10319400-10329800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr1:10319600-10324800	Strong transcription	Fetal Lung	lung
46	chr1:10319600-10326000	Strong transcription	Fetal Stomach	stomach
47	chr1:10319800-10324600	Strong transcription	Stomach Smooth Muscle	stomach
48	chr1:10320000-10322800	Strong transcription	Rectal Mucosa Donor 29	rectum
49	chr1:10320000-10324800	Strong transcription	Skeletal Muscle Female	skeletal muscle
50	chr1:10320200-10324600	Strong transcription	Skeletal Muscle Male	skeletal muscle

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