Variant report

Variant	rs73002907
Chromosome Location	chr1:155814338-155814339
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	chr1:155813223..155816752-chr1:155827638..155829227,3	K562	blood:
2	chr1:155811458..155814834-chr1:155821359..155824319,3	K562	blood:

Variant related genes	Relation type
ENSG00000116580	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs35542631	1.00[AMR][1000 genomes]
rs57110733	1.00[AMR][1000 genomes]
rs57692591	1.00[AMR][1000 genomes]
rs57875392	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59071816	1.00[AMR][1000 genomes]
rs59293055	1.00[AMR][1000 genomes]
rs59322867	1.00[AMR][1000 genomes]
rs60243295	1.00[AMR][1000 genomes]
rs60291493	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61290992	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61317108	1.00[AMR][1000 genomes]
rs6689656	1.00[AMR][1000 genomes]
rs6689779	1.00[AFR][1000 genomes]
rs72999071	1.00[AMR][1000 genomes]
rs72999073	1.00[AMR][1000 genomes]
rs72999076	1.00[AMR][1000 genomes]
rs73001016	1.00[AMR][1000 genomes]
rs73001054	1.00[AMR][1000 genomes]
rs73001080	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73001081	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73001083	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73001085	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73001088	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73001099	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73002905	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73002917	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73002929	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73002930	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73004969	1.00[AMR][1000 genomes]
rs7516232	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7553076	1.00[AMR][1000 genomes]

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	esv33869	chr1:155223283-155917961	Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
2	esv3423892	chr1:155664084-155901487	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv1003170	chr1:155762204-155836564	Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv916198	chr1:155804210-156403997	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	428 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	chr1:155783600-155823000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:155787600-155822000	Weak transcription	Esophagus	oesophagus
3	chr1:155789600-155822000	Weak transcription	Fetal Brain Male	brain
4	chr1:155791800-155814800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr1:155792200-155814800	Weak transcription	HMEC	breast
6	chr1:155792200-155822000	Weak transcription	Pancreas	Pancrea
7	chr1:155792200-155826000	Weak transcription	Stomach Mucosa	stomach
8	chr1:155792400-155814800	Weak transcription	Colon Smooth Muscle	Colon
9	chr1:155792400-155826600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:155792600-155822800	Weak transcription	Rectal Smooth Muscle	rectum
11	chr1:155793400-155814400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr1:155793400-155820200	Weak transcription	Brain Cingulate Gyrus	brain
13	chr1:155793600-155814600	Weak transcription	HUVEC	blood vessel
14	chr1:155793800-155814600	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr1:155793800-155815000	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr1:155795200-155815000	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr1:155795200-155817800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr1:155796000-155814600	Weak transcription	Brain Germinal Matrix	brain
19	chr1:155796000-155814600	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr1:155796800-155821200	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr1:155796800-155822800	Weak transcription	Small Intestine	intestine
22	chr1:155797400-155814400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr1:155797400-155814600	Weak transcription	Adipose Nuclei	Adipose
24	chr1:155798000-155814400	Weak transcription	Stomach Smooth Muscle	stomach
25	chr1:155798000-155814800	Weak transcription	Liver	Liver
26	chr1:155798000-155822000	Weak transcription	Aorta	Aorta
27	chr1:155798200-155815000	Weak transcription	Fetal Lung	lung
28	chr1:155799200-155815000	Weak transcription	Fetal Kidney	kidney
29	chr1:155801800-155814600	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr1:155803800-155826000	Weak transcription	Right Atrium	heart
31	chr1:155804200-155815200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr1:155804400-155814400	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr1:155804400-155814600	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr1:155804400-155814600	Weak transcription	Brain Substantia Nigra	brain
35	chr1:155804400-155814800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr1:155804600-155814400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr1:155804600-155814800	Weak transcription	NHLF	lung
38	chr1:155804600-155821600	Weak transcription	NHDF-Ad	bronchial
39	chr1:155805600-155816800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr1:155807200-155814600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr1:155807400-155814600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr1:155807400-155814800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr1:155807400-155816800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr1:155808000-155826000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr1:155808400-155814600	Weak transcription	K562	blood
46	chr1:155810000-155814800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr1:155810000-155825200	Strong transcription	Monocytes-CD14+_RO01746	blood
48	chr1:155810200-155814800	Strong transcription	Primary T cells from cord blood	blood
49	chr1:155810200-155815000	Weak transcription	HSMM	muscle
50	chr1:155810400-155815400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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