Variant report

Variant	rs11973724
Chromosome Location	chr7:129392680-129392681
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	EGR1	chr7:129392637-129392856	K562	blood:	n/a	chr7:129392767-129392777

No.	Distal block	Cell Line	Cell type
1	chr7:129388426..129393265-chr7:129394279..129399447,9	K562	blood:
2	chr7:129391336..129392932-chr7:129418780..129420324,2	MCF-7	breast:
3	chr7:129386194..129388656-chr7:129389433..129393027,3	K562	blood:

Variant related genes	Relation type
RNA5SP244	TF binding region
ENSG00000212238	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs10244147	0.81[ASN][1000 genomes]
rs6948697	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1813824	chr7:129379450-129424461	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	364 gene(s)	inside rSNPs	diseases
2	esv14232	chr7:129379923-129445465	Flanking Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	365 gene(s)	inside rSNPs	diseases
3	nsv516024	chr7:129387380-129444951	Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	365 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:129351600-129394800	Weak transcription	Hela-S3	cervix
2	chr7:129360600-129394800	Weak transcription	Small Intestine	intestine
3	chr7:129364200-129397600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr7:129366800-129399400	Weak transcription	Fetal Kidney	kidney
5	chr7:129369600-129399400	Weak transcription	Fetal Brain Male	brain
6	chr7:129372200-129397800	Weak transcription	NH-A	brain
7	chr7:129372400-129398800	Weak transcription	NHLF	lung
8	chr7:129374600-129394800	Weak transcription	Gastric	stomach
9	chr7:129375000-129394800	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr7:129375000-129395400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr7:129376600-129393000	Strong transcription	Primary T cells fromperipheralblood	blood
12	chr7:129376600-129397200	Strong transcription	Dnd41	blood
13	chr7:129377200-129392800	Strong transcription	Thymus	Thymus
14	chr7:129379800-129400400	Weak transcription	HSMM	muscle
15	chr7:129380000-129394800	Weak transcription	Colon Smooth Muscle	Colon
16	chr7:129380000-129397000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr7:129380000-129406600	Weak transcription	HSMMtube	muscle
18	chr7:129380400-129394800	Weak transcription	A549	lung
19	chr7:129380800-129397800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr7:129381800-129404200	Weak transcription	HepG2	liver
21	chr7:129381800-129415600	Weak transcription	Pancreas	Pancrea
22	chr7:129382000-129398400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr7:129382400-129394800	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr7:129382400-129395400	Weak transcription	Right Ventricle	heart
25	chr7:129382400-129395800	Weak transcription	Brain Hippocampus Middle	brain
26	chr7:129382400-129396200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr7:129382400-129408600	Weak transcription	Right Atrium	heart
28	chr7:129382400-129408800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr7:129382600-129407000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr7:129382800-129394800	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr7:129382800-129411400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr7:129383400-129395200	Weak transcription	Brain Angular Gyrus	brain
33	chr7:129383400-129395800	Weak transcription	Brain Anterior Caudate	brain
34	chr7:129383400-129398400	Weak transcription	Brain Substantia Nigra	brain
35	chr7:129383600-129394800	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr7:129383800-129396000	Weak transcription	HUVEC	blood vessel
37	chr7:129383800-129401000	Weak transcription	Osteobl	bone
38	chr7:129384200-129394800	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr7:129384800-129394800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr7:129384800-129394800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr7:129384800-129394800	Weak transcription	Ovary	ovary
42	chr7:129385400-129399200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr7:129385600-129394800	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr7:129385600-129395600	Weak transcription	Psoas Muscle	Psoas
45	chr7:129386400-129397200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr7:129387200-129394800	Weak transcription	Primary neutrophils fromperipheralblood	blood
47	chr7:129387200-129394800	Weak transcription	Aorta	Aorta
48	chr7:129387200-129394800	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr7:129387200-129394800	Weak transcription	Esophagus	oesophagus
50	chr7:129387200-129394800	Weak transcription	Left Ventricle	heart

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