Variant report

Variant	rs1252602
Chromosome Location	chr2:30645969-30645970
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:30643798..30646343-chr2:30647095..30650083,5	K562	blood:
2	chr2:30644068..30646779-chr2:30882858..30884362,2	K562	blood:
3	chr2:30453855..30456299-chr2:30645533..30648817,3	K562	blood:
4	chr2:30368074..30370588-chr2:30643535..30646269,2	K562	blood:

Variant related genes	Relation type
ENSG00000119801	Chromatin interaction
ENSG00000213626	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs35326918	1.00[ASN][1000 genomes]
rs829667	0.85[AMR][1000 genomes];0.83[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	nsv533886	chr2:30130019-31068764	ZNF genes & repeats Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv833648	chr2:30505882-30696275	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	esv1799950	chr2:30632520-30654319	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30627600-30647200	Weak transcription	Brain Angular Gyrus	brain
2	chr2:30643400-30646400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
3	chr2:30643600-30648200	Enhancers	Primary T killer memory cells from peripheral blood	blood
4	chr2:30643800-30646400	Enhancers	Primary B cells from peripheral blood	blood
5	chr2:30643800-30646400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr2:30643800-30646400	Enhancers	K562	blood
7	chr2:30644000-30646000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
8	chr2:30644000-30646000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr2:30644000-30646000	Enhancers	Fetal Muscle Leg	muscle
10	chr2:30644000-30646000	Enhancers	Left Ventricle	heart
11	chr2:30644000-30646400	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr2:30644000-30646400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr2:30644000-30646400	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr2:30644000-30646400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr2:30644000-30648600	Enhancers	Primary T cells fromperipheralblood	blood
16	chr2:30644400-30646400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr2:30644400-30646400	Enhancers	HMEC	breast
18	chr2:30644400-30650400	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr2:30644600-30646000	Flanking Active TSS	Primary T cells from cord blood	blood
20	chr2:30644600-30646000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr2:30645000-30646400	Enhancers	NHLF	lung
22	chr2:30645000-30646600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr2:30645000-30646600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
24	chr2:30645000-30647600	Enhancers	Fetal Thymus	thymus
25	chr2:30645000-30652400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr2:30645200-30646800	Enhancers	Primary B cells from cord blood	blood
27	chr2:30645200-30647600	Enhancers	Primary T helper cells fromperipheralblood	blood
28	chr2:30645200-30648000	Enhancers	Primary T helper naive cells from peripheral blood	blood
29	chr2:30645400-30646400	Enhancers	Thymus	Thymus
30	chr2:30645600-30646400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr2:30645600-30646400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
32	chr2:30645600-30646400	Enhancers	GM12878-XiMat	blood
33	chr2:30645600-30647200	Weak transcription	Brain Cingulate Gyrus	brain
34	chr2:30645600-30647200	Weak transcription	Brain Hippocampus Middle	brain
35	chr2:30645600-30647400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr2:30645600-30647400	Weak transcription	Esophagus	oesophagus
37	chr2:30645600-30647800	Weak transcription	Right Ventricle	heart
38	chr2:30645600-30648000	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr2:30645600-30648600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr2:30645600-30650800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr2:30645600-30650800	Weak transcription	Fetal Intestine Large	intestine
42	chr2:30645600-30651000	Weak transcription	Gastric	stomach
43	chr2:30645600-30656600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr2:30645800-30646000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr2:30645800-30646200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr2:30645800-30646200	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr2:30645800-30646200	Enhancers	Dnd41	blood
48	chr2:30645800-30646400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr2:30645800-30646400	Enhancers	Muscle Satellite Cultured Cells	--
50	chr2:30645800-30646600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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