Variant report

Variant	rs59937078
Chromosome Location	chr2:234333504-234333505
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:234184818..234186682-chr2:234331871..234334503,2	MCF-7	breast:
2	chr2:234333282..234336244-chr2:234336565..234338970,2	K562	blood:
3	chr2:234331362..234333513-chr2:234338098..234340435,2	MCF-7	breast:
4	chr2:234329179..234330776-chr2:234332983..234335044,2	K562	blood:

Variant related genes	Relation type
ENSG00000085978	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10170001	1.00[AMR][1000 genomes]
rs13389943	1.00[AMR][1000 genomes]
rs13390054	1.00[AMR][1000 genomes]
rs13395852	1.00[AMR][1000 genomes]
rs13403445	1.00[AMR][1000 genomes]
rs13406202	1.00[AMR][1000 genomes]
rs13406449	1.00[AMR][1000 genomes]
rs13422131	1.00[AMR][1000 genomes]
rs13426533	1.00[AMR][1000 genomes]
rs57845501	1.00[AMR][1000 genomes]
rs58172277	1.00[AMR][1000 genomes]
rs58592401	1.00[AMR][1000 genomes]
rs59148909	1.00[AMR][1000 genomes]
rs73110079	1.00[AMR][1000 genomes]
rs73110095	1.00[AMR][1000 genomes]
rs73123152	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv584700	chr2:234199401-234364426	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv529419	chr2:234229606-234670426	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
3	nsv1000870	chr2:234333083-234410768	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234322400-234371800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:234323200-234336600	Weak transcription	Brain Substantia Nigra	brain
3	chr2:234323800-234334600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr2:234324400-234335000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr2:234324400-234338400	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr2:234328200-234334200	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr2:234328200-234335000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr2:234328800-234337000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr2:234328800-234343000	Weak transcription	Liver	Liver
10	chr2:234329000-234334800	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr2:234329000-234339200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr2:234329000-234343600	Weak transcription	Fetal Brain Female	brain
13	chr2:234329000-234351600	Weak transcription	Fetal Brain Male	brain
14	chr2:234329200-234335000	Weak transcription	Aorta	Aorta
15	chr2:234329200-234335000	Weak transcription	Osteobl	bone
16	chr2:234329200-234343800	Weak transcription	Brain Germinal Matrix	brain
17	chr2:234329200-234344600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr2:234329400-234343200	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr2:234329400-234343400	Weak transcription	Brain Hippocampus Middle	brain
20	chr2:234329400-234344600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr2:234329400-234346000	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr2:234329600-234335000	Weak transcription	HUVEC	blood vessel
23	chr2:234330000-234333600	Genic enhancers	Fetal Muscle Leg	muscle
24	chr2:234330000-234333800	Enhancers	Fetal Intestine Large	intestine
25	chr2:234330200-234334000	Enhancers	Fetal Heart	heart
26	chr2:234330400-234333600	Enhancers	Left Ventricle	heart
27	chr2:234330800-234334600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr2:234330800-234335400	Weak transcription	Small Intestine	intestine
29	chr2:234330800-234336800	Weak transcription	Ovary	ovary
30	chr2:234330800-234337800	Strong transcription	Primary neutrophils fromperipheralblood	blood
31	chr2:234330800-234343200	Weak transcription	Rectal Smooth Muscle	rectum
32	chr2:234331000-234338000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr2:234331000-234344000	Weak transcription	Stomach Smooth Muscle	stomach
34	chr2:234331200-234335000	Enhancers	Primary T helper cells fromperipheralblood	blood
35	chr2:234331200-234335000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr2:234331200-234335000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr2:234331200-234338200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr2:234331200-234340400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
39	chr2:234331200-234343400	Weak transcription	Thymus	Thymus
40	chr2:234331200-234344000	Weak transcription	Dnd41	blood
41	chr2:234331200-234344600	Weak transcription	Esophagus	oesophagus
42	chr2:234331400-234333600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
43	chr2:234331400-234333800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
44	chr2:234331400-234334000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr2:234331400-234336000	Enhancers	Primary T helper naive cells from peripheral blood	blood
46	chr2:234331600-234338000	Weak transcription	Fetal Thymus	thymus
47	chr2:234331600-234338200	Weak transcription	Adipose Nuclei	Adipose
48	chr2:234331600-234344400	Weak transcription	Primary hematopoietic stem cells	blood
49	chr2:234331800-234333600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
50	chr2:234331800-234333600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood

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