Variant report

Variant	rs1624678
Chromosome Location	chr1:220153121-220153122
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:220150167..220154916-chr1:220176228..220180180,4	K562	blood:
2	chr1:220152386..220154865-chr1:220156720..220158835,3	K562	blood:
3	chr1:220152386..220154432-chr1:220156720..220158691,2	K562	blood:

Variant related genes	Relation type
ENSG00000136628	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1061160	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1498393	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1694577	0.84[AFR][1000 genomes]
rs1694601	0.86[AFR][1000 genomes]
rs1768668	0.86[AFR][1000 genomes]
rs2254494	0.86[AFR][1000 genomes]
rs2486328	0.80[AFR][1000 genomes]
rs2647435	0.86[AFR][1000 genomes]
rs2647436	0.80[AFR][1000 genomes]
rs2647437	0.84[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs2647460	0.87[AFR][1000 genomes]
rs2647463	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2647464	0.81[ASN][1000 genomes]
rs2789796	0.86[AFR][1000 genomes]
rs2789798	0.86[AFR][1000 genomes]
rs2789799	0.86[AFR][1000 genomes]
rs2795312	0.80[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	nsv427930	chr1:220120379-220333434	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	744 gene(s)	inside rSNPs	diseases
2	nsv998124	chr1:220132739-220189211	Strong transcription Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	n/a
3	nsv832636	chr1:220139697-220294352	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	738 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220132800-220177000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:220139400-220154000	Weak transcription	Fetal Lung	lung
3	chr1:220140000-220167400	Weak transcription	Gastric	stomach
4	chr1:220140200-220157600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:220140200-220160000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr1:220140400-220154200	Weak transcription	Esophagus	oesophagus
7	chr1:220140600-220162400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
8	chr1:220140600-220162400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr1:220140600-220163000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr1:220140800-220161800	Strong transcription	Fetal Thymus	thymus
11	chr1:220140800-220162400	Strong transcription	Fetal Intestine Large	intestine
12	chr1:220140800-220162400	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr1:220140800-220163200	Strong transcription	Primary T cells from cord blood	blood
14	chr1:220140800-220164000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr1:220140800-220173400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr1:220140800-220192400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr1:220141000-220158000	Strong transcription	Primary B cells from peripheral blood	blood
18	chr1:220141000-220163000	Strong transcription	HUES64 Cell Line	embryonic stem cell
19	chr1:220141000-220163200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr1:220141000-220163400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr1:220141200-220158200	Strong transcription	Rectal Mucosa Donor 29	rectum
22	chr1:220141200-220162000	Strong transcription	Adipose Nuclei	Adipose
23	chr1:220141200-220162800	Strong transcription	Duodenum Mucosa	Duodenum
24	chr1:220141200-220163200	Strong transcription	HSMM	muscle
25	chr1:220141200-220192200	Weak transcription	Fetal Kidney	kidney
26	chr1:220141400-220161800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr1:220141400-220162000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr1:220141400-220162200	Strong transcription	Primary T cells fromperipheralblood	blood
29	chr1:220141400-220162200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr1:220141400-220163400	Strong transcription	Dnd41	blood
31	chr1:220141400-220165400	Strong transcription	Primary T helper cells PMA-I stimulated	--
32	chr1:220141600-220158000	Strong transcription	Primary T helper cells fromperipheralblood	blood
33	chr1:220141600-220162000	Strong transcription	HUES48 Cell Line	embryonic stem cell
34	chr1:220141600-220162200	Strong transcription	Primary monocytes fromperipheralblood	blood
35	chr1:220141800-220157800	Strong transcription	HUES6 Cell Line	embryonic stem cell
36	chr1:220142000-220154600	Strong transcription	GM12878-XiMat	blood
37	chr1:220142200-220164000	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr1:220142600-220154000	Weak transcription	Aorta	Aorta
39	chr1:220142600-220169400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr1:220144000-220154000	Weak transcription	Small Intestine	intestine
41	chr1:220144400-220157200	Strong transcription	Rectal Mucosa Donor 31	rectum
42	chr1:220145200-220155000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr1:220145800-220162000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr1:220146400-220182800	Weak transcription	Spleen	Spleen
45	chr1:220146600-220154000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr1:220146600-220154000	Weak transcription	Brain Germinal Matrix	brain
47	chr1:220146600-220157800	Weak transcription	Right Ventricle	heart
48	chr1:220146600-220158800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr1:220146600-220160400	Weak transcription	Psoas Muscle	Psoas
50	chr1:220146800-220156600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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