Variant report

Variant	rs10248469
Chromosome Location	chr7:16806301-16806302
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:16805819..16808162-chr7:16843228..16844918,2	MCF-7	breast:
2	chr7:16791492..16793805-chr7:16805072..16808217,3	K562	blood:
3	chr7:16805955..16808414-chr7:16808769..16810759,2	K562	blood:
4	chr7:16685200..16687861-chr7:16804946..16807324,2	K562	blood:
5	chr7:16794764..16798120-chr7:16805812..16808493,3	MCF-7	breast:
6	chr7:16655192..16657272-chr7:16805854..16808580,2	MCF-7	breast:
7	chr7:16800951..16805401-chr7:16805504..16810552,5	K562	blood:

Variant related genes	Relation type
ENSG00000136261	Chromatin interaction
ENSG00000106541	Chromatin interaction
ENSG00000106537	Chromatin interaction
ENSG00000106524	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10265402	1.00[CEU][hapmap]
rs10499473	1.00[CEU][hapmap]
rs17169590	1.00[CEU][hapmap]
rs17169591	1.00[CEU][hapmap]
rs6461274	1.00[CEU][hapmap]
rs6961256	1.00[CEU][hapmap]
rs6974411	1.00[CEU][hapmap]
rs6979312	1.00[CEU][hapmap]
rs7780556	1.00[CEU][hapmap]
rs7790309	1.00[CEU][hapmap]
rs7805673	1.00[CEU][hapmap];1.00[MEX][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	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:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:16795000-16810200	Weak transcription	HMEC	breast
2	chr7:16795000-16810400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr7:16795000-16828400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr7:16795200-16810000	Weak transcription	NHEK	skin
5	chr7:16795200-16810600	Weak transcription	Fetal Muscle Leg	muscle
6	chr7:16795400-16813000	Weak transcription	Right Ventricle	heart
7	chr7:16796200-16806400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr7:16796400-16810200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr7:16796600-16810400	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr7:16796600-16816200	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr7:16799000-16807800	Weak transcription	Primary hematopoietic stem cells	blood
12	chr7:16799000-16810400	Weak transcription	K562	blood
13	chr7:16799600-16810000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr7:16799600-16813000	Weak transcription	Stomach Mucosa	stomach
15	chr7:16800600-16825600	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr7:16801400-16810600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr7:16801600-16811200	Weak transcription	Spleen	Spleen
18	chr7:16802200-16810800	Weak transcription	Fetal Heart	heart
19	chr7:16802800-16817800	Weak transcription	Duodenum Mucosa	Duodenum
20	chr7:16803400-16810200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr7:16803600-16818000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr7:16803800-16825600	Weak transcription	Fetal Intestine Small	intestine
23	chr7:16805000-16832400	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr7:16805200-16807200	Weak transcription	Esophagus	oesophagus
25	chr7:16805200-16808000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr7:16805200-16810600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr7:16805200-16813600	Weak transcription	Left Ventricle	heart
28	chr7:16805200-16815600	Weak transcription	Fetal Brain Female	brain
29	chr7:16805200-16815800	Weak transcription	Fetal Intestine Large	intestine
30	chr7:16805800-16806400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr7:16805800-16806800	Enhancers	Primary B cells from peripheral blood	blood
32	chr7:16806000-16806400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr7:16806000-16806800	Strong transcription	Primary B cells from cord blood	blood
34	chr7:16806000-16806800	Enhancers	Pancreas	Pancrea
35	chr7:16806200-16806400	Enhancers	Rectal Mucosa Donor 31	rectum
36	chr7:16806200-16806800	Weak transcription	Psoas Muscle	Psoas

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