Variant report

Variant	rs7599337
Chromosome Location	chr2:178410323-178410324
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:178409008..178411767-chr2:178429982..178431742,2	K562	blood:
2	chr2:178403731..178407689-chr2:178408053..178410938,5	K562	blood:
3	chr2:178408440..178410614-chr2:178412560..178415158,4	K562	blood:

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs16865305	1.00[AFR][1000 genomes]
rs36052691	1.00[AFR][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	nsv999086	chr2:178262348-178773585	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv536055	chr2:178262348-178773585	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178335000-178410600	Weak transcription	Thymus	Thymus
2	chr2:178358600-178417000	Weak transcription	Aorta	Aorta
3	chr2:178364400-178416600	Weak transcription	Esophagus	oesophagus
4	chr2:178372800-178416600	Weak transcription	A549	lung
5	chr2:178375600-178413800	Weak transcription	K562	blood
6	chr2:178376200-178416600	Weak transcription	Pancreas	Pancrea
7	chr2:178388600-178416600	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr2:178389000-178416800	Weak transcription	Small Intestine	intestine
9	chr2:178389200-178416600	Weak transcription	Duodenum Mucosa	Duodenum
10	chr2:178389800-178416800	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr2:178390600-178416600	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr2:178391000-178413400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr2:178392000-178416800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr2:178397600-178410600	Weak transcription	Primary hematopoietic stem cells	blood
15	chr2:178401000-178416600	Weak transcription	Lung	lung
16	chr2:178402800-178416600	Weak transcription	Stomach Smooth Muscle	stomach
17	chr2:178403400-178410400	Weak transcription	Primary B cells from cord blood	blood
18	chr2:178403600-178411200	Weak transcription	Primary T cells from cord blood	blood
19	chr2:178403600-178416600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr2:178403800-178416600	Weak transcription	Brain Substantia Nigra	brain
21	chr2:178403800-178416800	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr2:178404000-178412000	Weak transcription	HUVEC	blood vessel
23	chr2:178405400-178416600	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr2:178405400-178416800	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr2:178406200-178416600	Weak transcription	HepG2	liver
26	chr2:178407800-178416800	Weak transcription	Fetal Brain Male	brain
27	chr2:178408000-178411600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr2:178408800-178416600	Weak transcription	HSMM	muscle
29	chr2:178409000-178411400	Enhancers	GM12878-XiMat	blood
30	chr2:178409000-178413000	Weak transcription	Rectal Smooth Muscle	rectum
31	chr2:178409200-178410600	Weak transcription	Adipose Nuclei	Adipose
32	chr2:178409200-178412600	Weak transcription	Colon Smooth Muscle	Colon
33	chr2:178409400-178411400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr2:178409400-178416400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr2:178409400-178416400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr2:178409600-178416600	Weak transcription	Osteobl	bone
37	chr2:178410000-178410600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr2:178410000-178411600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr2:178410200-178411600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood

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