Variant report

Variant	rs2588822
Chromosome Location	chr14:68627251-68627252
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:68549045..68550590-chr14:68627061..68629304,2	MCF-7	breast:
2	chr14:68624965..68627608-chr14:68656572..68658244,2	MCF-7	breast:
3	chr14:68604526..68606535-chr14:68626039..68628332,2	MCF-7	breast:
4	chr14:68619639..68622771-chr14:68624194..68627478,3	MCF-7	breast:

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

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

rs_ID	r²[population]
rs2767361	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2767362	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2767363	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2767380	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2767381	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2767386	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34030120	0.84[AFR][1000 genomes];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	nsv869154	chr14:68366754-69041768	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv1048794	chr14:68614152-68649231	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68612600-68628000	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr14:68613000-68631200	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr14:68621200-68630000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr14:68621400-68628200	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr14:68621400-68631000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr14:68623000-68627400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr14:68623000-68630600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr14:68623000-68631000	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr14:68623200-68627400	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr14:68623200-68627400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr14:68624000-68630400	Weak transcription	Ovary	ovary
12	chr14:68624800-68628000	Enhancers	A549	lung
13	chr14:68625000-68627600	Weak transcription	Stomach Mucosa	stomach
14	chr14:68625000-68629600	Weak transcription	Fetal Intestine Small	intestine
15	chr14:68625000-68631200	Weak transcription	Fetal Muscle Leg	muscle
16	chr14:68625000-68635600	Weak transcription	HSMM	muscle
17	chr14:68625200-68627600	Weak transcription	Osteobl	bone
18	chr14:68625200-68631200	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr14:68625200-68631200	Weak transcription	Stomach Smooth Muscle	stomach
20	chr14:68625200-68635000	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr14:68625200-68636800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr14:68625400-68629600	Weak transcription	Fetal Intestine Large	intestine
23	chr14:68625600-68627400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr14:68625600-68628200	Weak transcription	Liver	Liver
25	chr14:68625600-68630800	Weak transcription	HepG2	liver
26	chr14:68625600-68631200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr14:68625800-68631200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr14:68626400-68627600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr14:68626400-68628200	Enhancers	Colon Smooth Muscle	Colon
30	chr14:68626600-68627400	Enhancers	Pancreatic Islets	Pancreatic Islet
31	chr14:68626600-68628200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr14:68626800-68628000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr14:68626800-68629000	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr14:68626800-68629600	Weak transcription	Fetal Kidney	kidney
35	chr14:68627000-68627800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr14:68627000-68628200	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr14:68627000-68628200	Enhancers	Fetal Lung	lung
38	chr14:68627000-68628600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr14:68627200-68627600	Weak transcription	Rectal Smooth Muscle	rectum
40	chr14:68627200-68627800	Weak transcription	Small Intestine	intestine
41	chr14:68627200-68630000	Weak transcription	Fetal Stomach	stomach
42	chr14:68627200-68631200	Weak transcription	Psoas Muscle	Psoas

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