Variant report

Variant	rs2390633
Chromosome Location	chr7:22390445-22390446
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:22388247..22390670-chr7:22394895..22396584,2	MCF-7	breast:
2	chr7:22390336..22392269-chr7:22472031..22473610,2	MCF-7	breast:
3	chr7:22389519..22393797-chr7:22394454..22398682,6	K562	blood:
4	chr7:22385617..22387742-chr7:22389122..22391158,2	MCF-7	breast:
5	chr7:22383521..22386043-chr7:22390326..22392664,3	K562	blood:

Variant related genes	Relation type
ENSG00000136237	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17773555	0.85[CEU][hapmap]
rs17775586	0.87[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830923	chr7:22316841-22494973	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	esv1792359	chr7:22377636-22391198	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:22369400-22394800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr7:22380000-22392200	Weak transcription	Primary B cells from cord blood	blood
3	chr7:22383000-22395200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr7:22384200-22395800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr7:22384800-22395000	Weak transcription	Thymus	Thymus
6	chr7:22385800-22391600	Weak transcription	Fetal Thymus	thymus
7	chr7:22388400-22395000	Weak transcription	Esophagus	oesophagus
8	chr7:22388600-22391400	Weak transcription	Pancreas	Pancrea
9	chr7:22389000-22392800	Enhancers	Fetal Intestine Large	intestine
10	chr7:22389400-22391200	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr7:22389400-22391600	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr7:22389400-22392200	Enhancers	Fetal Intestine Small	intestine
13	chr7:22389400-22392400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr7:22389400-22392600	Flanking Active TSS	GM12878-XiMat	blood
15	chr7:22389600-22391000	Genic enhancers	Dnd41	blood
16	chr7:22389600-22391200	Enhancers	HUVEC	blood vessel
17	chr7:22389600-22391600	Enhancers	Liver	Liver
18	chr7:22389600-22392600	Weak transcription	Small Intestine	intestine
19	chr7:22389800-22391200	Enhancers	Pancreatic Islets	Pancreatic Islet
20	chr7:22389800-22391200	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr7:22389800-22391200	Flanking Active TSS	K562	blood
22	chr7:22389800-22391400	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr7:22389800-22391600	Enhancers	Sigmoid Colon	Sigmoid Colon
24	chr7:22390000-22390600	Enhancers	H9 Cell Line	embryonic stem cell
25	chr7:22390000-22390600	Enhancers	NH-A	brain
26	chr7:22390000-22391600	Enhancers	Muscle Satellite Cultured Cells	--
27	chr7:22390000-22391800	Flanking Active TSS	Duodenum Mucosa	Duodenum
28	chr7:22390000-22391800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr7:22390000-22392000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr7:22390000-22392000	Enhancers	Osteobl	bone
31	chr7:22390000-22392200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr7:22390200-22390600	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr7:22390200-22390600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr7:22390200-22390600	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr7:22390200-22391200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr7:22390200-22391200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr7:22390200-22391600	Enhancers	Rectal Mucosa Donor 29	rectum
38	chr7:22390200-22391600	Enhancers	HMEC	breast
39	chr7:22390200-22391800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr7:22390200-22391800	Flanking Active TSS	HepG2	liver
41	chr7:22390200-22392000	Enhancers	Rectal Mucosa Donor 31	rectum
42	chr7:22390200-22392000	Enhancers	NHEK	skin
43	chr7:22390400-22391200	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr7:22390400-22391800	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr7:22390400-22391800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr7:22390400-22392600	Enhancers	Stomach Mucosa	stomach

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