Variant report

Variant	rs72983223
Chromosome Location	chr11:74359280-74359281
allele	C/T
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	RCOR1	chr11:74359194-74362505	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:74346915..74349082-chr11:74357415..74360108,2	MCF-7	breast:
2	chr11:74303751..74305512-chr11:74357483..74359321,2	MCF-7	breast:
3	chr11:74355333..74357275-chr11:74357526..74359680,2	K562	blood:

Variant related genes	Relation type
RANP3	TF binding region

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12805108	1.00[AFR][1000 genomes]
rs67772345	1.00[AFR][1000 genomes]
rs71465927	1.00[AFR][1000 genomes]
rs72979222	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72989331	1.00[AFR][1000 genomes]
rs72991248	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757451	chr11:73842609-74545888	Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	esv2759837	chr11:73842609-74557597	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	esv34979	chr11:73878688-74533452	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
4	esv2758277	chr11:73887567-74557597	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
5	nsv825994	chr11:73936667-74534455	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:74304600-74373800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:74304800-74361400	Weak transcription	Colonic Mucosa	Colon
3	chr11:74314000-74370200	Weak transcription	Psoas Muscle	Psoas
4	chr11:74319200-74366000	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr11:74321600-74364800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr11:74331400-74383400	Weak transcription	Brain Substantia Nigra	brain
7	chr11:74340000-74364200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
8	chr11:74344200-74363200	Strong transcription	Primary T cells from cord blood	blood
9	chr11:74344800-74363400	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr11:74345600-74359800	Strong transcription	Duodenum Mucosa	Duodenum
11	chr11:74346200-74361000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr11:74346800-74359400	Weak transcription	Esophagus	oesophagus
13	chr11:74346800-74364800	Weak transcription	Fetal Intestine Small	intestine
14	chr11:74347000-74367400	Weak transcription	Gastric	stomach
15	chr11:74348200-74360600	Weak transcription	NHLF	lung
16	chr11:74348400-74361400	Weak transcription	HSMMtube	muscle
17	chr11:74348400-74361400	Weak transcription	Osteobl	bone
18	chr11:74348400-74364400	Strong transcription	A549	lung
19	chr11:74350800-74360200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
20	chr11:74351400-74361600	Weak transcription	Brain Cingulate Gyrus	brain
21	chr11:74351800-74374200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr11:74352400-74361200	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr11:74352400-74361400	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr11:74352400-74365000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr11:74352600-74361400	Weak transcription	Stomach Mucosa	stomach
26	chr11:74352600-74361600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr11:74352600-74362600	Weak transcription	HSMM	muscle
28	chr11:74352600-74363600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr11:74352600-74365000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr11:74352600-74365800	Weak transcription	Pancreas	Pancrea
31	chr11:74352600-74373600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr11:74352600-74383400	Weak transcription	Brain Hippocampus Middle	brain
33	chr11:74352800-74359400	Weak transcription	Aorta	Aorta
34	chr11:74352800-74362400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr11:74352800-74363400	Weak transcription	NH-A	brain
36	chr11:74352800-74365200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr11:74352800-74365200	Weak transcription	Fetal Brain Male	brain
38	chr11:74352800-74366200	Weak transcription	Brain Germinal Matrix	brain
39	chr11:74352800-74382600	Weak transcription	Spleen	Spleen
40	chr11:74353000-74363600	Weak transcription	HUVEC	blood vessel
41	chr11:74353000-74366600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr11:74353200-74361000	Weak transcription	HepG2	liver
43	chr11:74353200-74361400	Weak transcription	Lung	lung
44	chr11:74353200-74362000	Weak transcription	Placenta	Placenta
45	chr11:74353200-74362400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr11:74353200-74365400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr11:74353200-74369800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr11:74353200-74370000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr11:74353200-74371600	Weak transcription	Fetal Brain Female	brain
50	chr11:74353200-74381400	Weak transcription	Small Intestine	intestine

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