Variant report

Variant	rs60235307
Chromosome Location	chr7:16811084-16811085
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:16795785..16798056-chr7:16809613..16812120,2	MCF-7	breast:
2	chr7:16738651..16740401-chr7:16809870..16812323,2	K562	blood:
3	chr7:16792792..16795221-chr7:16809203..16812018,2	MCF-7	breast:
4	chr7:16808766..16811387-chr7:16812487..16815098,2	K562	blood:

Variant related genes	Relation type
ENSG00000106537	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs28582757	0.85[AMR][1000 genomes]
rs6461274	0.85[AMR][1000 genomes]
rs73299630	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73299640	0.85[AMR][1000 genomes]
rs73299645	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73299648	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7780556	1.00[AMR][1000 genomes]

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	nsv1028125	chr7:16529160-16847225	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1024059	chr7:16639432-16836425	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:16795000-16828400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr7:16795400-16813000	Weak transcription	Right Ventricle	heart
3	chr7:16796600-16816200	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr7:16799600-16813000	Weak transcription	Stomach Mucosa	stomach
5	chr7:16800600-16825600	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr7:16801600-16811200	Weak transcription	Spleen	Spleen
7	chr7:16802800-16817800	Weak transcription	Duodenum Mucosa	Duodenum
8	chr7:16803600-16818000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr7:16803800-16825600	Weak transcription	Fetal Intestine Small	intestine
10	chr7:16805000-16832400	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr7:16805200-16813600	Weak transcription	Left Ventricle	heart
12	chr7:16805200-16815600	Weak transcription	Fetal Brain Female	brain
13	chr7:16805200-16815800	Weak transcription	Fetal Intestine Large	intestine
14	chr7:16806400-16821400	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr7:16806800-16811200	Weak transcription	Adipose Nuclei	Adipose
16	chr7:16806800-16815200	Weak transcription	Pancreas	Pancrea
17	chr7:16810200-16811200	Flanking Active TSS	NHEK	skin
18	chr7:16810200-16811400	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr7:16810200-16811400	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr7:16810200-16811400	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr7:16810400-16811200	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr7:16810400-16811200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr7:16810400-16811200	Flanking Active TSS	HMEC	breast
24	chr7:16810400-16811400	Enhancers	K562	blood
25	chr7:16810400-16811400	Active TSS	Osteobl	bone
26	chr7:16810400-16811600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr7:16810400-16812200	Genic enhancers	Primary B cells from peripheral blood	blood
28	chr7:16810600-16811400	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr7:16810600-16811400	Enhancers	Fetal Muscle Leg	muscle
30	chr7:16810600-16812000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr7:16810800-16811200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr7:16810800-16812000	Enhancers	Fetal Heart	heart
33	chr7:16810800-16815400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr7:16810800-16823200	Weak transcription	Psoas Muscle	Psoas
35	chr7:16810800-16825000	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr7:16811000-16811200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr7:16811000-16811400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
38	chr7:16811000-16811400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr7:16811000-16811600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr7:16811000-16811600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr7:16811000-16811600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr7:16811000-16814800	Strong transcription	Primary B cells from cord blood	blood
43	chr7:16811000-16815400	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr7:16811000-16817800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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