Variant report

Variant	rs4412307
Chromosome Location	chr7:101528560-101528561
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:101524538..101530208-chr7:101583819..101590225,13	MCF-7	breast:
2	chr7:101527665..101530418-chr7:101615760..101617815,3	MCF-7	breast:
3	chr7:101457345..101464020-chr7:101524379..101528846,10	MCF-7	breast:
4	chr7:101527923..101529893-chr7:101545437..101547345,2	MCF-7	breast:
5	chr7:101528031..101528981-chr7:101647157..101648096,6	MCF-7	breast:
6	chr7:101528047..101528816-chr7:101588110..101588805,2	MCF-7	breast:
7	chr7:101526144..101529822-chr7:101529905..101534800,8	MCF-7	breast:
8	chr7:101528188..101530830-chr7:101535885..101537732,3	K562	blood:
9	chr7:101456951..101464631-chr7:101524079..101528885,15	MCF-7	breast:
10	chr7:101526412..101529161-chr7:101615489..101617394,2	MCF-7	breast:
11	chr7:101528092..101529388-chr7:101615803..101616659,3	MCF-7	breast:
12	chr7:101527942..101530347-chr7:101531830..101534316,3	K562	blood:
13	chr7:101524654..101529313-chr7:101536956..101539660,5	MCF-7	breast:
14	chr7:101525862..101528715-chr7:101557017..101559763,2	MCF-7	breast:
15	chr7:101528047..101528863-chr7:101588035..101588805,3	MCF-7	breast:
16	chr7:101528248..101529991-chr7:101540450..101543058,2	K562	blood:
17	chr7:101527495..101530331-chr7:101553334..101556908,4	MCF-7	breast:
18	chr7:101528082..101528596-chr7:101647484..101648096,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000257923	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10270083	1.00[CEU][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2906656	0.82[CEU][hapmap]
rs4236558	0.91[CEU][hapmap];0.83[YRI][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4727512	0.82[CEU][hapmap]

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	nsv1024319	chr7:101368299-101668159	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv539047	chr7:101368299-101668159	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	nsv1020372	chr7:101420819-101718950	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:101521200-101528800	Enhancers	Fetal Heart	heart
2	chr7:101523200-101543200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr7:101523600-101528600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr7:101523600-101529400	Enhancers	Rectal Mucosa Donor 29	rectum
5	chr7:101523600-101529600	Enhancers	Rectal Smooth Muscle	rectum
6	chr7:101526000-101528800	Enhancers	Dnd41	blood
7	chr7:101526000-101530200	Enhancers	Fetal Thymus	thymus
8	chr7:101526000-101540400	Weak transcription	Aorta	Aorta
9	chr7:101526200-101528600	Weak transcription	Psoas Muscle	Psoas
10	chr7:101526200-101528600	Weak transcription	Spleen	Spleen
11	chr7:101526200-101528800	Enhancers	Colon Smooth Muscle	Colon
12	chr7:101526200-101528800	Enhancers	Hela-S3	cervix
13	chr7:101526200-101531400	Weak transcription	Esophagus	oesophagus
14	chr7:101526200-101536800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr7:101526400-101528800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr7:101526400-101528800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr7:101526400-101529800	Weak transcription	Fetal Muscle Trunk	muscle
18	chr7:101526400-101530000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr7:101526400-101533200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr7:101526400-101534600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr7:101526400-101542200	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr7:101526600-101529600	Enhancers	Liver	Liver
23	chr7:101526600-101533200	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr7:101526800-101528600	Enhancers	HepG2	liver
25	chr7:101526800-101529000	Weak transcription	Adipose Nuclei	Adipose
26	chr7:101526800-101529400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr7:101526800-101530200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr7:101526800-101531400	Enhancers	Left Ventricle	heart
29	chr7:101526800-101534600	Weak transcription	HSMMtube	muscle
30	chr7:101526800-101543000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr7:101527000-101529200	Weak transcription	Fetal Stomach	stomach
32	chr7:101527000-101534400	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr7:101527000-101538600	Weak transcription	Fetal Muscle Leg	muscle
34	chr7:101527000-101543000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr7:101527000-101543000	Weak transcription	NHEK	skin
36	chr7:101527200-101528600	Enhancers	Sigmoid Colon	Sigmoid Colon
37	chr7:101527200-101528800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
38	chr7:101527200-101529000	Enhancers	A549	lung
39	chr7:101527200-101529400	Enhancers	Primary T cells fromperipheralblood	blood
40	chr7:101527200-101530200	Enhancers	Primary T helper cells PMA-I stimulated	--
41	chr7:101527200-101530400	Enhancers	Right Atrium	heart
42	chr7:101527200-101531000	Enhancers	Primary B cells from peripheral blood	blood
43	chr7:101527200-101542200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr7:101527400-101528600	Enhancers	Rectal Mucosa Donor 31	rectum
45	chr7:101527400-101528800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
46	chr7:101527400-101529200	Enhancers	Primary T helper naive cells from peripheral blood	blood
47	chr7:101527400-101529200	Enhancers	Primary T helper cells fromperipheralblood	blood
48	chr7:101527400-101529200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr7:101527400-101529600	Enhancers	Brain Angular Gyrus	brain
50	chr7:101527400-101529600	Enhancers	Stomach Mucosa	stomach

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