Variant report

Variant	rs2777336
Chromosome Location	chr9:104164162-104164163
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr9:104163901-104164170	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:104159627..104161244-chr9:104162690..104167076,3	K562	blood:
2	chr9:104163070..104164765-chr9:104190213..104192227,2	MCF-7	breast:

Variant related genes	Relation type
MRPL50	TF binding region
ENSG00000136872	Chromatin interaction
ENSG00000136870	Chromatin interaction
ENSG00000136897	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1233983	0.84[EUR][1000 genomes]
rs2777337	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2777338	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.87[TSI][hapmap];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2777348	0.81[CEU][hapmap];0.86[EUR][1000 genomes]
rs4577	0.80[GIH][hapmap];0.92[TSI][hapmap];0.86[EUR][1000 genomes]
rs475348	0.86[EUR][1000 genomes]
rs491979	0.81[CEU][hapmap];0.88[EUR][1000 genomes]
rs506571	0.81[CEU][hapmap];0.90[TSI][hapmap];0.86[EUR][1000 genomes]
rs525998	0.81[CEU][hapmap];0.86[EUR][1000 genomes]
rs577823	0.81[CEU][hapmap];0.86[EUR][1000 genomes]
rs578597	0.80[GIH][hapmap];0.93[TSI][hapmap];0.86[EUR][1000 genomes]
rs7852444	0.81[CEU][hapmap];0.93[TSI][hapmap];0.86[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3386049	chr9:104163886-104164213	Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:104162000-104164200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr9:104162000-104164600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr9:104162000-104169600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr9:104162200-104165200	Genic enhancers	Primary T helper cells fromperipheralblood	blood
5	chr9:104162400-104164200	Transcr. at gene 5' and 3'	Duodenum Smooth Muscle	Duodenum
6	chr9:104162400-104164800	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr9:104162400-104165000	Transcr. at gene 5' and 3'	HepG2	liver
8	chr9:104162400-104165200	Transcr. at gene 5' and 3'	Fetal Intestine Large	intestine
9	chr9:104162400-104165400	Strong transcription	Fetal Muscle Trunk	muscle
10	chr9:104162400-104166000	Strong transcription	HUES48 Cell Line	embryonic stem cell
11	chr9:104162400-104167400	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr9:104162600-104164200	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr9:104162600-104164600	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr9:104162600-104165400	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr9:104162600-104166200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
16	chr9:104162600-104166200	Transcr. at gene 5' and 3'	Brain Anterior Caudate	brain
17	chr9:104162600-104170400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr9:104162600-104170400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr9:104162600-104171600	Strong transcription	Placenta	Placenta
20	chr9:104162600-104172000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr9:104162800-104164200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr9:104162800-104164200	Genic enhancers	Liver	Liver
23	chr9:104162800-104164600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr9:104162800-104164600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr9:104162800-104164600	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr9:104162800-104165000	Weak transcription	Colonic Mucosa	Colon
27	chr9:104162800-104165400	Weak transcription	Gastric	stomach
28	chr9:104162800-104165400	Strong transcription	HSMM	muscle
29	chr9:104162800-104165400	Strong transcription	NHDF-Ad	bronchial
30	chr9:104162800-104165800	Genic enhancers	Primary T helper cells PMA-I stimulated	--
31	chr9:104162800-104167000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
32	chr9:104162800-104167000	Strong transcription	Primary T cells fromperipheralblood	blood
33	chr9:104162800-104167400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr9:104162800-104168000	Weak transcription	Esophagus	oesophagus
35	chr9:104162800-104169000	Strong transcription	HSMMtube	muscle
36	chr9:104162800-104169200	Strong transcription	HUES6 Cell Line	embryonic stem cell
37	chr9:104162800-104169400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr9:104162800-104169600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr9:104162800-104170000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr9:104162800-104170000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr9:104162800-104172200	ZNF genes & repeats	A549	lung
42	chr9:104162800-104173800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr9:104163000-104164200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
44	chr9:104163000-104164200	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
45	chr9:104163000-104164200	Enhancers	Fetal Heart	heart
46	chr9:104163000-104165200	Strong transcription	Primary neutrophils fromperipheralblood	blood
47	chr9:104163000-104165400	Strong transcription	Rectal Mucosa Donor 29	rectum
48	chr9:104163000-104165400	Strong transcription	Rectal Smooth Muscle	rectum
49	chr9:104163000-104165400	Strong transcription	Stomach Smooth Muscle	stomach
50	chr9:104163000-104165400	Strong transcription	NHEK	skin

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