Variant report

Variant	rs7530900
Chromosome Location	chr1:158024450-158024451
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:158020778..158022913-chr1:158023711..158025340,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12049103	0.82[CHB][hapmap]
rs12561890	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12749549	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17454196	0.90[CHB][hapmap]
rs1925029	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4971186	0.82[CHB][hapmap]
rs4971187	0.81[CHB][hapmap]
rs7527735	0.82[CHB][hapmap]
rs912640	0.82[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1823720	chr1:157978556-158034017	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv999542	chr1:158015715-158368132	Bivalent Enhancer Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv1005196	chr1:158015996-158065522	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
4	nsv523208	chr1:158022217-158088687	Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:157997600-158047600	Weak transcription	Dnd41	blood
2	chr1:158001200-158047400	Weak transcription	Thymus	Thymus
3	chr1:158002400-158025400	Weak transcription	Fetal Brain Female	brain
4	chr1:158008200-158024600	Weak transcription	Placenta	Placenta
5	chr1:158013600-158025600	Weak transcription	Brain Germinal Matrix	brain
6	chr1:158013800-158027000	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr1:158015200-158025400	Weak transcription	Left Ventricle	heart
8	chr1:158015200-158036400	Weak transcription	Esophagus	oesophagus
9	chr1:158015600-158029800	Weak transcription	Gastric	stomach
10	chr1:158016000-158025600	Weak transcription	Fetal Thymus	thymus
11	chr1:158016000-158025800	Weak transcription	Pancreas	Pancrea
12	chr1:158016200-158025600	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr1:158016200-158025600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr1:158016200-158030200	Weak transcription	Fetal Intestine Small	intestine
15	chr1:158016600-158025000	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr1:158016600-158028400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr1:158016800-158024800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr1:158016800-158028000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr1:158016800-158028600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr1:158016800-158029200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr1:158017200-158025000	Weak transcription	Right Atrium	heart
22	chr1:158017600-158025600	Weak transcription	Right Ventricle	heart
23	chr1:158018800-158025000	Weak transcription	Spleen	Spleen
24	chr1:158019800-158025600	Weak transcription	Aorta	Aorta
25	chr1:158020000-158025200	Weak transcription	Adipose Nuclei	Adipose
26	chr1:158020200-158028400	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr1:158020200-158034800	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr1:158020400-158024600	Weak transcription	Fetal Stomach	stomach
29	chr1:158020400-158026000	Weak transcription	Colon Smooth Muscle	Colon
30	chr1:158020400-158026000	Weak transcription	Rectal Smooth Muscle	rectum
31	chr1:158020600-158025000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr1:158021000-158025200	Weak transcription	Ovary	ovary
33	chr1:158021000-158025400	Weak transcription	Lung	lung
34	chr1:158021400-158024800	Weak transcription	Fetal Muscle Trunk	muscle
35	chr1:158021400-158025600	Weak transcription	Stomach Smooth Muscle	stomach
36	chr1:158021600-158026200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr1:158021800-158026600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr1:158022000-158024800	Weak transcription	Fetal Muscle Leg	muscle
39	chr1:158022000-158025200	Weak transcription	Fetal Heart	heart
40	chr1:158022800-158024600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr1:158022800-158029000	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr1:158023200-158024600	Weak transcription	Fetal Kidney	kidney
43	chr1:158023400-158024600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr1:158023400-158025200	Weak transcription	HUVEC	blood vessel
45	chr1:158023400-158026000	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr1:158023400-158035400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr1:158023600-158024800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr1:158023600-158025000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr1:158023600-158025200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr1:158023600-158025600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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