Variant report

Variant	rs6968516
Chromosome Location	chr7:16808022-16808023
allele	A/C
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

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	chr7:16793040..16795145-chr7:16806357..16808475,2	MCF-7	breast:
4	chr7:16805955..16808414-chr7:16808769..16810759,2	K562	blood:
5	chr7:16798134..16800758-chr7:16806574..16808872,2	MCF-7	breast:
6	chr7:16794764..16798120-chr7:16805812..16808493,3	MCF-7	breast:
7	chr7:16806775..16809760-chr7:16831007..16833203,2	K562	blood:
8	chr7:16655192..16657272-chr7:16805854..16808580,2	MCF-7	breast:
9	chr7:16800951..16805401-chr7:16805504..16810552,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000106537	Chromatin interaction
ENSG00000106541	Chromatin interaction

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

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

rs_ID	r²[population]
rs10240631	1.00[EUR][1000 genomes]
rs11970832	0.90[YRI][hapmap]
rs11973387	0.87[YRI][hapmap];0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28582757	1.00[EUR][1000 genomes]
rs55792810	1.00[EUR][1000 genomes]
rs55984905	1.00[EUR][1000 genomes]
rs73301535	1.00[EUR][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:32 , 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	chr7:16796400-16810200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr7:16796600-16810400	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr7:16796600-16816200	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr7:16799000-16810400	Weak transcription	K562	blood
11	chr7:16799600-16810000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr7:16799600-16813000	Weak transcription	Stomach Mucosa	stomach
13	chr7:16800600-16825600	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr7:16801400-16810600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr7:16801600-16811200	Weak transcription	Spleen	Spleen
16	chr7:16802200-16810800	Weak transcription	Fetal Heart	heart
17	chr7:16802800-16817800	Weak transcription	Duodenum Mucosa	Duodenum
18	chr7:16803400-16810200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr7:16803600-16818000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr7:16803800-16825600	Weak transcription	Fetal Intestine Small	intestine
21	chr7:16805000-16832400	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr7:16805200-16810600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr7:16805200-16813600	Weak transcription	Left Ventricle	heart
24	chr7:16805200-16815600	Weak transcription	Fetal Brain Female	brain
25	chr7:16805200-16815800	Weak transcription	Fetal Intestine Large	intestine
26	chr7:16806400-16810400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr7:16806400-16821400	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr7:16806800-16810000	Weak transcription	Primary B cells from peripheral blood	blood
29	chr7:16806800-16811000	Weak transcription	Primary B cells from cord blood	blood
30	chr7:16806800-16811200	Weak transcription	Adipose Nuclei	Adipose
31	chr7:16806800-16815200	Weak transcription	Pancreas	Pancrea
32	chr7:16808000-16808200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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