Variant report

Variant	rs7602378
Chromosome Location	chr2:234361721-234361722
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:234360801..234363275-chr2:234364556..234366918,3	K562	blood:
2	chr2:234361502..234363996-chr2:234822105..234824849,2	MCF-7	breast:
3	chr2:234360801..234364452-chr2:234364556..234366918,5	K562	blood:
4	chr2:234355995..234359078-chr2:234359739..234362107,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000077044	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs28969980	1.00[CHB][hapmap]
rs6718771	1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73995975	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73995978	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
4	nsv876013	chr2:234338227-234579915	Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234322400-234371800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:234338400-234362800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:234339600-234394200	Weak transcription	HUVEC	blood vessel
4	chr2:234339800-234391400	Weak transcription	NHDF-Ad	bronchial
5	chr2:234343000-234393000	Strong transcription	Primary T cells from cord blood	blood
6	chr2:234343000-234402200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr2:234343200-234383000	Strong transcription	Primary neutrophils fromperipheralblood	blood
8	chr2:234343400-234368800	Strong transcription	Sigmoid Colon	Sigmoid Colon
9	chr2:234344000-234366200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr2:234344000-234382000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
11	chr2:234344200-234382000	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr2:234344200-234382200	Strong transcription	Primary B cells from cord blood	blood
13	chr2:234344200-234382600	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr2:234344400-234381600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr2:234346600-234375000	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr2:234348000-234370800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr2:234348400-234362800	Weak transcription	Right Atrium	heart
18	chr2:234348400-234363400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr2:234350200-234377600	Strong transcription	Left Ventricle	heart
20	chr2:234350400-234374400	Strong transcription	Fetal Intestine Large	intestine
21	chr2:234352000-234367400	Strong transcription	Primary hematopoietic stem cells	blood
22	chr2:234352400-234362800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr2:234352400-234368800	Strong transcription	Colonic Mucosa	Colon
24	chr2:234352400-234380800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr2:234352400-234382000	Strong transcription	Primary T helper cells fromperipheralblood	blood
26	chr2:234352600-234368800	Strong transcription	Duodenum Mucosa	Duodenum
27	chr2:234352600-234369000	Strong transcription	Brain Anterior Caudate	brain
28	chr2:234352600-234373600	Strong transcription	Primary T helper naive cells from peripheral blood	blood
29	chr2:234352600-234380800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr2:234352600-234380800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr2:234352600-234381400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr2:234352600-234381600	Strong transcription	Primary T helper cells PMA-I stimulated	--
33	chr2:234352600-234381800	Strong transcription	Rectal Mucosa Donor 29	rectum
34	chr2:234352600-234382600	Strong transcription	Primary B cells from peripheral blood	blood
35	chr2:234352600-234382600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr2:234352800-234382000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr2:234353000-234364600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr2:234353000-234369000	Strong transcription	Brain Hippocampus Middle	brain
39	chr2:234353000-234378000	Strong transcription	Rectal Smooth Muscle	rectum
40	chr2:234353200-234369800	Strong transcription	Right Ventricle	heart
41	chr2:234353400-234368600	Strong transcription	Skeletal Muscle Male	skeletal muscle
42	chr2:234353400-234373600	Strong transcription	Aorta	Aorta
43	chr2:234353400-234379600	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr2:234353400-234381600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr2:234353600-234373800	Strong transcription	Dnd41	blood
46	chr2:234353600-234381800	Strong transcription	Primary T cells fromperipheralblood	blood
47	chr2:234353800-234372600	Strong transcription	Placenta	Placenta
48	chr2:234353800-234378000	Strong transcription	Fetal Stomach	stomach
49	chr2:234354000-234369200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr2:234354000-234373800	Strong transcription	Fetal Brain Female	brain

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