Variant report

Variant	rs10234904
Chromosome Location	chr7:129391881-129391882
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TAL1	chr7:129391856-129392196	K562	blood:	n/a	n/a
2	GATA1	chr7:129391662-129392350	PBDE	blood:	n/a	n/a
3	GABPA	chr7:129391851-129392178	K562	blood:	n/a	n/a
4	POLR2A	chr7:129391655-129392183	K562	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:129390482..129392654-chr7:129396448..129398436,2	MCF-7	breast:
2	chr7:129358443..129361944-chr7:129389455..129392209,3	K562	blood:
3	chr7:129358443..129361588-chr7:129390162..129392270,3	K562	blood:
4	chr7:129388426..129393265-chr7:129394279..129399447,9	K562	blood:
5	chr7:129391336..129392932-chr7:129418780..129420324,2	MCF-7	breast:
6	chr7:129389134..129391918-chr7:129464788..129466826,2	MCF-7	breast:
7	chr7:129386194..129388656-chr7:129389433..129393027,3	K562	blood:

No data

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

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10224702	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10231985	0.87[CHB][hapmap];0.95[JPT][hapmap];0.88[YRI][hapmap];0.80[ASN][1000 genomes]
rs10238665	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10245818	0.84[CEU][hapmap];0.87[CHB][hapmap];0.95[JPT][hapmap]
rs10250715	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10258498	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10274906	0.80[ASN][1000 genomes]
rs10276606	0.82[CHB][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs10279678	0.80[ASN][1000 genomes]
rs11487138	0.81[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap]
rs12670479	0.81[ASN][1000 genomes]
rs2402964	0.95[CHB][hapmap];0.95[JPT][hapmap];0.99[ASN][1000 genomes]
rs28480046	0.96[ASN][1000 genomes]
rs55853524	0.80[ASN][1000 genomes]
rs56099086	0.84[ASN][1000 genomes]
rs57241718	0.83[ASN][1000 genomes]
rs60362426	0.81[ASN][1000 genomes]
rs62489268	0.80[ASN][1000 genomes]
rs6942490	0.83[CHB][hapmap];0.81[JPT][hapmap]
rs6953077	0.87[CHB][hapmap];0.95[JPT][hapmap];0.92[YRI][hapmap];0.81[ASN][1000 genomes]
rs6955093	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6969098	0.85[CEU][hapmap];0.87[CHB][hapmap];0.95[JPT][hapmap]
rs6976507	0.80[CEU][hapmap];0.87[CHB][hapmap];0.82[JPT][hapmap]
rs73159622	0.83[ASN][1000 genomes]
rs7459234	0.83[ASN][1000 genomes]
rs753947	0.83[CHB][hapmap];0.95[JPT][hapmap]
rs7777812	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7792411	0.84[ASN][1000 genomes]
rs7796553	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7797729	0.87[CHB][hapmap];0.95[JPT][hapmap];0.93[YRI][hapmap];0.84[ASN][1000 genomes]
rs7800226	0.90[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[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	chr7:129348200-129392000	Strong transcription	Primary T helper cells fromperipheralblood	blood
2	chr7:129351600-129394800	Weak transcription	Hela-S3	cervix
3	chr7:129357000-129392400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
4	chr7:129360600-129394800	Weak transcription	Small Intestine	intestine
5	chr7:129361800-129392400	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr7:129364200-129397600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr7:129366800-129399400	Weak transcription	Fetal Kidney	kidney
8	chr7:129369600-129399400	Weak transcription	Fetal Brain Male	brain
9	chr7:129372200-129397800	Weak transcription	NH-A	brain
10	chr7:129372400-129398800	Weak transcription	NHLF	lung
11	chr7:129373800-129392000	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr7:129374600-129394800	Weak transcription	Gastric	stomach
13	chr7:129375000-129394800	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr7:129375000-129395400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr7:129375800-129392000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr7:129376600-129393000	Strong transcription	Primary T cells fromperipheralblood	blood
17	chr7:129376600-129397200	Strong transcription	Dnd41	blood
18	chr7:129376800-129392200	Strong transcription	Primary T cells from cord blood	blood
19	chr7:129377200-129392800	Strong transcription	Thymus	Thymus
20	chr7:129379800-129400400	Weak transcription	HSMM	muscle
21	chr7:129380000-129394800	Weak transcription	Colon Smooth Muscle	Colon
22	chr7:129380000-129397000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr7:129380000-129406600	Weak transcription	HSMMtube	muscle
24	chr7:129380400-129394800	Weak transcription	A549	lung
25	chr7:129380800-129397800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr7:129381200-129392600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr7:129381800-129404200	Weak transcription	HepG2	liver
28	chr7:129381800-129415600	Weak transcription	Pancreas	Pancrea
29	chr7:129382000-129392200	Strong transcription	Fetal Thymus	thymus
30	chr7:129382000-129398400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr7:129382200-129392000	Strong transcription	Stomach Smooth Muscle	stomach
32	chr7:129382400-129394800	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr7:129382400-129395400	Weak transcription	Right Ventricle	heart
34	chr7:129382400-129395800	Weak transcription	Brain Hippocampus Middle	brain
35	chr7:129382400-129396200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr7:129382400-129408600	Weak transcription	Right Atrium	heart
37	chr7:129382400-129408800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr7:129382600-129407000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr7:129382800-129394800	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr7:129382800-129411400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr7:129383400-129395200	Weak transcription	Brain Angular Gyrus	brain
42	chr7:129383400-129395800	Weak transcription	Brain Anterior Caudate	brain
43	chr7:129383400-129398400	Weak transcription	Brain Substantia Nigra	brain
44	chr7:129383600-129394800	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr7:129383800-129396000	Weak transcription	HUVEC	blood vessel
46	chr7:129383800-129401000	Weak transcription	Osteobl	bone
47	chr7:129384200-129394800	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr7:129384800-129392000	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr7:129384800-129394800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr7:129384800-129394800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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