Variant report

Variant	rs12154992
Chromosome Location	chr7:120432437-120432438
allele	A/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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:120365276..120366203-chr7:120431867..120432670,2	MCF-7	breast:
2	chr7:120431821..120432727-chr7:120977262..120978044,2	K562	blood:
3	chr7:120432158..120432781-chr7:120497321..120498216,2	MCF-7	breast:
4	chr7:120431872..120432675-chr7:120721154..120721746,2	MCF-7	breast:
5	chr7:120429497..120433705-chr7:120588481..120592283,5	MCF-7	breast:
6	chr7:120431789..120432669-chr7:120497274..120498124,6	K562	blood:
7	chr7:120431064..120435276-chr7:120437934..120440347,4	K562	blood:
8	chr7:120431634..120433947-chr7:120435928..120437734,2	K562	blood:
9	chr7:120431987..120432719-chr7:120580875..120581724,2	MCF-7	breast:
10	chr3:182537385..182537919-chr7:120431797..120432504,2	MCF-7	breast:
11	chr7:120426535..120428741-chr7:120429958..120433038,3	K562	blood:
12	chr7:120431789..120432774-chr7:120580898..120581834,5	MCF-7	breast:
13	chr7:120431798..120432733-chr7:120748046..120748607,2	K562	blood:
14	chr7:120431063..120433784-chr7:120719676..120721817,4	K562	blood:
15	chr7:120365224..120365804-chr7:120432177..120432677,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000071243	Chromatin interaction
ENSG00000106025	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10252911	1.00[CEU][hapmap]
rs10261886	1.00[CEU][hapmap]
rs10272601	1.00[CEU][hapmap]
rs17143055	1.00[CEU][hapmap]
rs1859316	1.00[CEU][hapmap]
rs3757556	1.00[CEU][hapmap]
rs3757557	1.00[CEU][hapmap]
rs3779387	1.00[CEU][hapmap]
rs4141301	1.00[CEU][hapmap]
rs4141309	1.00[CEU][hapmap]
rs4461820	1.00[CEU][hapmap]
rs56027915	1.00[AMR][1000 genomes]
rs6964344	1.00[CEU][hapmap]
rs6975372	1.00[CEU][hapmap]
rs6979247	1.00[CEU][hapmap]
rs7776721	1.00[CEU][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1818826	chr7:120405335-120622836	Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:120423000-120449200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr7:120425600-120433200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr7:120425600-120434400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr7:120425600-120434400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr7:120425600-120470400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr7:120425800-120434800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr7:120425800-120437600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr7:120425800-120454400	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr7:120426600-120442000	Weak transcription	Fetal Muscle Trunk	muscle
10	chr7:120427400-120466000	Weak transcription	Fetal Stomach	stomach
11	chr7:120427800-120438400	Weak transcription	Aorta	Aorta
12	chr7:120428400-120440400	Weak transcription	Fetal Intestine Small	intestine
13	chr7:120429200-120445600	Weak transcription	Colon Smooth Muscle	Colon
14	chr7:120429400-120434000	Weak transcription	Left Ventricle	heart
15	chr7:120429400-120437200	Weak transcription	Fetal Muscle Leg	muscle
16	chr7:120430200-120437200	Weak transcription	Liver	Liver
17	chr7:120430400-120468200	Weak transcription	Duodenum Mucosa	Duodenum
18	chr7:120432000-120432600	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr7:120432000-120432600	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr7:120432000-120432600	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr7:120432000-120432600	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr7:120432000-120432600	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr7:120432000-120432800	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr7:120432000-120432800	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr7:120432000-120433200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr7:120432000-120433400	Enhancers	Fetal Heart	heart
27	chr7:120432200-120432600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr7:120432200-120432600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr7:120432200-120432600	Enhancers	Fetal Intestine Large	intestine
30	chr7:120432200-120432600	Enhancers	Lung	lung
31	chr7:120432200-120432600	Enhancers	Placenta Amnion	Placenta Amnion
32	chr7:120432200-120432600	Enhancers	Right Atrium	heart
33	chr7:120432200-120432600	Enhancers	Spleen	Spleen
34	chr7:120432200-120432800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr7:120432200-120432800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr7:120432200-120433600	Enhancers	HUVEC	blood vessel
37	chr7:120432400-120432600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr7:120432400-120432600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr7:120432400-120432800	Enhancers	H1 Cell Line	embryonic stem cell
40	chr7:120432400-120432800	Enhancers	H9 Cell Line	embryonic stem cell
41	chr7:120432400-120432800	Enhancers	Gastric	stomach
42	chr7:120432400-120433200	Enhancers	Muscle Satellite Cultured Cells	--
43	chr7:120432400-120433200	Enhancers	Fetal Kidney	kidney
44	chr7:120432400-120434800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr7:120432400-120434800	Enhancers	HMEC	breast
46	chr7:120432400-120436000	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr7:120432400-120442200	Weak transcription	Right Ventricle	heart

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