Variant report

Variant	rs7704369
Chromosome Location	chr5:90654387-90654388
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:90654073..90656775-chr5:90675198..90677740,2	MCF-7	breast:
2	chr5:90654339..90657202-chr5:90674827..90676928,2	MCF-7	breast:
3	chr5:90651589..90655979-chr5:90658781..90662164,4	MCF-7	breast:
4	chr5:90648603..90650953-chr5:90652283..90654822,2	K562	blood:
5	chr5:90653189..90655962-chr5:90660509..90662048,2	MCF-7	breast:
6	chr5:90653142..90655524-chr5:90678238..90680376,2	MCF-7	breast:
7	chr5:90643658..90646415-chr5:90653701..90655794,2	K562	blood:

Variant related genes	Relation type
ENSG00000113369	Chromatin interaction
ENSG00000240388	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs6869989	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6870498	1.00[AMR][1000 genomes]
rs6873831	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs6879975	1.00[AMR][1000 genomes]
rs6884322	1.00[AMR][1000 genomes]
rs7716836	1.00[AMR][1000 genomes]
rs7717427	1.00[AMR][1000 genomes]
rs7722959	1.00[AMR][1000 genomes]
rs7736297	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	nsv1024813	chr5:90321535-90870739	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
2	nsv537806	chr5:90321535-90870739	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:90646400-90663800	Weak transcription	Thymus	Thymus
2	chr5:90649600-90663200	Weak transcription	Stomach Smooth Muscle	stomach
3	chr5:90650600-90663800	Weak transcription	Spleen	Spleen
4	chr5:90651400-90657800	Weak transcription	Primary hematopoietic stem cells	blood
5	chr5:90651600-90663200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr5:90651800-90656400	Weak transcription	Primary B cells from peripheral blood	blood
7	chr5:90651800-90662800	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr5:90652200-90663200	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr5:90652400-90655800	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr5:90652800-90654600	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr5:90653200-90654600	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr5:90653200-90654600	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr5:90653200-90654800	Enhancers	Stomach Mucosa	stomach
14	chr5:90653400-90662400	Weak transcription	Brain Anterior Caudate	brain
15	chr5:90653400-90663000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr5:90653400-90663200	Weak transcription	Brain Substantia Nigra	brain
17	chr5:90653400-90663800	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr5:90653400-90666800	Weak transcription	Pancreas	Pancrea
19	chr5:90653400-90670400	Weak transcription	Right Atrium	heart
20	chr5:90653600-90654600	Enhancers	Hela-S3	cervix
21	chr5:90653600-90654800	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr5:90653600-90662400	Weak transcription	Brain Cingulate Gyrus	brain
23	chr5:90653600-90663000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr5:90653600-90663000	Weak transcription	Fetal Intestine Small	intestine
25	chr5:90653600-90663000	Weak transcription	Fetal Muscle Leg	muscle
26	chr5:90653600-90663200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr5:90653600-90663200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr5:90653600-90663200	Weak transcription	Duodenum Mucosa	Duodenum
29	chr5:90653600-90663200	Weak transcription	Fetal Kidney	kidney
30	chr5:90653600-90663200	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr5:90653600-90663400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr5:90653600-90663400	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr5:90653600-90663800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr5:90653600-90665200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr5:90653600-90665400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr5:90653600-90666200	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr5:90653600-90666200	Weak transcription	Psoas Muscle	Psoas
38	chr5:90653600-90666400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr5:90653600-90666800	Weak transcription	Gastric	stomach
40	chr5:90653600-90669400	Weak transcription	Small Intestine	intestine
41	chr5:90653800-90663200	Weak transcription	Liver	Liver
42	chr5:90653800-90663400	Weak transcription	A549	lung
43	chr5:90653800-90665800	Weak transcription	HepG2	liver
44	chr5:90654000-90663800	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr5:90654200-90663000	Weak transcription	HUES48 Cell Line	embryonic stem cell

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