Variant report

Variant	rs9425763
Chromosome Location	chr1:173843130-173843131
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:173792231..173795076-chr1:173841193..173844127,3	K562	blood:
2	chr1:173842881..173845710-chr1:173854372..173856048,2	K562	blood:
3	chr1:173791401..173793731-chr1:173842627..173844452,2	K562	blood:

Variant related genes	Relation type
ENSG00000120334	Chromatin interaction
ENSG00000117593	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs4650988	0.85[AFR][1000 genomes]
rs9425417	0.81[AFR][1000 genomes]
rs9425429	0.85[AFR][1000 genomes]
rs9425432	0.85[AFR][1000 genomes]
rs9425737	0.81[AFR][1000 genomes]
rs9425739	0.81[AFR][1000 genomes]
rs9425743	0.81[AFR][1000 genomes]
rs9425767	0.85[AFR][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	nsv1012384	chr1:173614816-173974426	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	294 gene(s)	inside rSNPs	diseases
2	nsv831926	chr1:173702403-173894667	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	291 gene(s)	inside rSNPs	diseases
3	esv2757761	chr1:173810642-173955943	Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	264 gene(s)	inside rSNPs	diseases
4	esv2758978	chr1:173810642-173955943	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	264 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:173838200-173846600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr1:173838200-173854200	Weak transcription	Gastric	stomach
3	chr1:173838200-173866000	Weak transcription	Small Intestine	intestine
4	chr1:173838400-173844600	Weak transcription	Ovary	ovary
5	chr1:173838400-173844800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr1:173838400-173854200	Weak transcription	Esophagus	oesophagus
7	chr1:173838400-173854800	Weak transcription	Aorta	Aorta
8	chr1:173838400-173854800	Weak transcription	Right Ventricle	heart
9	chr1:173838400-173860200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr1:173838600-173854800	Weak transcription	Rectal Smooth Muscle	rectum
11	chr1:173838800-173843600	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr1:173838800-173844400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr1:173838800-173855800	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr1:173839000-173848400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr1:173839000-173850000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr1:173839000-173854800	Weak transcription	Colon Smooth Muscle	Colon
17	chr1:173839000-173862800	Weak transcription	HMEC	breast
18	chr1:173839200-173850000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:173839200-173855000	Weak transcription	A549	lung
20	chr1:173839400-173844000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr1:173839400-173847800	Strong transcription	Fetal Muscle Trunk	muscle
22	chr1:173839400-173847800	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr1:173839400-173849200	Strong transcription	Fetal Stomach	stomach
24	chr1:173839400-173850000	Strong transcription	HUES48 Cell Line	embryonic stem cell
25	chr1:173839600-173854600	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr1:173839800-173845400	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr1:173840000-173845400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr1:173840200-173844200	Weak transcription	Left Ventricle	heart
29	chr1:173840200-173845800	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr1:173840200-173849600	Strong transcription	Placenta	Placenta
31	chr1:173840200-173854200	Weak transcription	Colonic Mucosa	Colon
32	chr1:173840200-173854800	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr1:173840200-173856800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr1:173840400-173845800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr1:173840400-173846400	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr1:173840400-173846400	Weak transcription	Brain Germinal Matrix	brain
37	chr1:173840400-173846400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr1:173840400-173855000	Weak transcription	Psoas Muscle	Psoas
39	chr1:173840600-173844000	Weak transcription	Brain Substantia Nigra	brain
40	chr1:173840600-173844600	Weak transcription	NHEK	skin
41	chr1:173840600-173844800	Weak transcription	Fetal Intestine Small	intestine
42	chr1:173840600-173849400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr1:173840600-173854200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr1:173840800-173843600	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr1:173840800-173843800	Weak transcription	Liver	Liver
46	chr1:173840800-173844600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr1:173840800-173844600	Weak transcription	Spleen	Spleen
48	chr1:173840800-173844800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr1:173840800-173844800	Weak transcription	Brain Hippocampus Middle	brain
50	chr1:173840800-173844800	Weak transcription	Brain Inferior Temporal Lobe	brain

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