Variant report

Variant	rs73474594
Chromosome Location	chr11:32944830-32944831
allele	A/G
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	CTCF	chr11:32944780-32944930	HepG2	liver:	n/a	n/a
2	CTCF	chr11:32944800-32944950	GM12873	blood:	n/a	n/a
3	CTCF	chr11:32944800-32944950	GM12871	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:32913396..32916033-chr11:32943893..32945923,3	K562	blood:
2	chr11:32913447..32916787-chr11:32944160..32946280,4	K562	blood:
3	chr11:32942975..32945695-chr11:32951329..32953837,2	K562	blood:
4	chr11:32935340..32937202-chr11:32944261..32946142,2	MCF-7	breast:

Variant related genes	Relation type
QSER1	TF binding region
ENSG00000060749	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11032054	1.00[AFR][1000 genomes]
rs11032057	1.00[AFR][1000 genomes]
rs11032059	1.00[AFR][1000 genomes]
rs11032067	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11032068	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12269925	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12270033	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12280829	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12287776	0.83[AFR][1000 genomes]
rs12288319	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12290810	0.95[AFR][1000 genomes]
rs12295245	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16923664	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73476624	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758262	chr11:32714643-33049940	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	esv2759815	chr11:32714643-33049940	Flanking Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
3	esv2757434	chr11:32792784-32958609	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
4	esv34742	chr11:32796092-33004024	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
5	esv2753057	chr11:32796124-33061724	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
6	esv2753743	chr11:32796124-33084924	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
7	nsv897190	chr11:32801921-32951836	Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 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	chr11:32916000-32953200	Weak transcription	Pancreas	Pancrea
2	chr11:32916200-32953200	Weak transcription	Right Ventricle	heart
3	chr11:32916400-32952800	Weak transcription	Fetal Intestine Small	intestine
4	chr11:32916400-32953200	Weak transcription	Primary B cells from peripheral blood	blood
5	chr11:32916400-32953400	Weak transcription	NHLF	lung
6	chr11:32916400-32953600	Weak transcription	NHDF-Ad	bronchial
7	chr11:32917000-32952800	Weak transcription	Primary B cells from cord blood	blood
8	chr11:32917400-32951000	Weak transcription	HSMM	muscle
9	chr11:32917400-32953000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr11:32917600-32952800	Weak transcription	Fetal Stomach	stomach
11	chr11:32918000-32953200	Weak transcription	Fetal Brain Female	brain
12	chr11:32918600-32953600	Weak transcription	Fetal Brain Male	brain
13	chr11:32919600-32953000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr11:32921200-32952800	Weak transcription	Stomach Smooth Muscle	stomach
15	chr11:32921200-32953200	Weak transcription	Primary T cells from cord blood	blood
16	chr11:32921400-32951000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr11:32921800-32950800	Weak transcription	Fetal Thymus	thymus
18	chr11:32922600-32951200	Weak transcription	Primary hematopoietic stem cells	blood
19	chr11:32922800-32952800	Weak transcription	Fetal Muscle Leg	muscle
20	chr11:32924000-32952800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr11:32924000-32952800	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr11:32924000-32953200	Weak transcription	Left Ventricle	heart
23	chr11:32924400-32949600	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr11:32924400-32951200	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr11:32926400-32952800	Weak transcription	Ovary	ovary
26	chr11:32926800-32951000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr11:32927200-32953200	Weak transcription	Fetal Heart	heart
28	chr11:32927400-32951200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr11:32927400-32953400	Weak transcription	Fetal Kidney	kidney
30	chr11:32928200-32952800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr11:32928400-32947200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr11:32930600-32951200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr11:32932400-32946200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr11:32932800-32948600	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr11:32933400-32953200	Weak transcription	K562	blood
36	chr11:32933600-32951000	Weak transcription	Dnd41	blood
37	chr11:32935400-32953400	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr11:32936600-32952800	Weak transcription	Fetal Muscle Trunk	muscle
39	chr11:32936600-32952800	Weak transcription	HepG2	liver
40	chr11:32936800-32953000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr11:32937400-32953400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr11:32938200-32953200	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr11:32938400-32951200	Weak transcription	A549	lung
44	chr11:32940000-32952800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr11:32940200-32947600	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr11:32940200-32949600	Weak transcription	HMEC	breast
47	chr11:32940200-32951000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr11:32940200-32953200	Weak transcription	NH-A	brain
49	chr11:32940200-32953400	Weak transcription	Psoas Muscle	Psoas
50	chr11:32940400-32950800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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