Variant report

Variant	rs34374547
Chromosome Location	chr1:212333048-212333049
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:212325199..212329163-chr1:212330168..212333367,6	K562	blood:
2	chr1:212330760..212333077-chr1:212334606..212336652,3	K562	blood:
3	chr1:212325464..212333414-chr1:212456079..212461375,10	K562	blood:
4	chr1:212330819..212333414-chr1:212457168..212459834,2	K562	blood:
5	chr1:212324540..212327607-chr1:212329235..212333367,6	K562	blood:

Variant related genes	Relation type
ENSG00000066027	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12117845	0.89[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs12125796	0.83[EUR][1000 genomes]
rs2358451	0.83[EUR][1000 genomes]
rs35720341	0.86[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	nsv999738	chr1:212218618-212513690	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1009376	chr1:212292357-212680320	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	nsv549139	chr1:212332294-212876902	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212309000-212347200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:212323600-212335800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr1:212324600-212340400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:212326400-212335000	Weak transcription	Small Intestine	intestine
5	chr1:212328400-212334600	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr1:212330200-212333200	Enhancers	Liver	Liver
7	chr1:212330800-212336800	Enhancers	Fetal Thymus	thymus
8	chr1:212331000-212334400	Weak transcription	NHEK	skin
9	chr1:212331000-212334600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:212331000-212334600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr1:212331000-212335800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr1:212331000-212335800	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr1:212331200-212334400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr1:212331200-212334400	Weak transcription	HMEC	breast
15	chr1:212331800-212335800	Enhancers	Primary T cells from cord blood	blood
16	chr1:212331800-212336600	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr1:212332000-212333200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr1:212332000-212333200	Enhancers	HepG2	liver
19	chr1:212332000-212333200	Enhancers	K562	blood
20	chr1:212332200-212333200	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr1:212332200-212333200	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr1:212332200-212333200	Enhancers	Esophagus	oesophagus
23	chr1:212332200-212333200	Enhancers	Lung	lung
24	chr1:212332200-212334600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr1:212332400-212333200	Enhancers	Primary T cells fromperipheralblood	blood
26	chr1:212332400-212333200	Enhancers	Primary hematopoietic stem cells	blood
27	chr1:212332400-212333200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr1:212332400-212333200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr1:212332400-212333200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr1:212332400-212333200	Enhancers	Gastric	stomach
31	chr1:212332400-212333200	Enhancers	Spleen	Spleen
32	chr1:212332600-212335600	Weak transcription	Duodenum Mucosa	Duodenum
33	chr1:212332800-212334200	Weak transcription	Psoas Muscle	Psoas
34	chr1:212332800-212334400	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr1:212332800-212334600	Weak transcription	Right Atrium	heart
36	chr1:212332800-212334800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr1:212332800-212335600	Weak transcription	Adipose Nuclei	Adipose
38	chr1:212332800-212337600	Enhancers	Thymus	Thymus
39	chr1:212333000-212333200	Enhancers	Dnd41	blood
40	chr1:212333000-212334200	Weak transcription	HSMM	muscle
41	chr1:212333000-212334200	Weak transcription	HSMMtube	muscle
42	chr1:212333000-212334400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr1:212333000-212334400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr1:212333000-212334600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr1:212333000-212334600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr1:212333000-212334600	Weak transcription	Stomach Mucosa	stomach
47	chr1:212333000-212334600	Enhancers	GM12878-XiMat	blood
48	chr1:212333000-212334800	Weak transcription	Left Ventricle	heart
49	chr1:212333000-212335000	Weak transcription	Right Ventricle	heart
50	chr1:212333000-212335400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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