Variant report

Variant	rs58355408
Chromosome Location	chr2:7127863-7127864
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:7126650..7129012-chr2:7161153..7163325,2	K562	blood:

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs16865777	1.00[AFR][1000 genomes]
rs56246937	1.00[AFR][1000 genomes]
rs73914447	1.00[AFR][1000 genomes]
rs73914449	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	nsv833326	chr2:6985027-7142564	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv2598	chr2:7088737-7133415	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:7083800-7129600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr2:7101000-7130000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr2:7101200-7144000	Weak transcription	Aorta	Aorta
4	chr2:7101200-7154000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr2:7109200-7137000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr2:7115800-7148800	Weak transcription	Esophagus	oesophagus
7	chr2:7121200-7130800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr2:7121200-7145400	Weak transcription	Thymus	Thymus
9	chr2:7121400-7129400	Weak transcription	Fetal Thymus	thymus
10	chr2:7121400-7148200	Weak transcription	Fetal Intestine Small	intestine
11	chr2:7121800-7130200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr2:7122000-7128000	Enhancers	Pancreas	Pancrea
13	chr2:7123600-7133400	Weak transcription	Fetal Stomach	stomach
14	chr2:7123800-7131000	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr2:7123800-7132400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr2:7124000-7130800	Weak transcription	Fetal Brain Female	brain
17	chr2:7124000-7132000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr2:7124000-7132200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr2:7124000-7157600	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr2:7124200-7129600	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr2:7125000-7128000	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr2:7126000-7128000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr2:7126000-7128000	Enhancers	Brain Germinal Matrix	brain
24	chr2:7126000-7128000	Enhancers	Fetal Muscle Leg	muscle
25	chr2:7126000-7128000	Enhancers	Left Ventricle	heart
26	chr2:7126000-7128400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr2:7126200-7128000	Flanking Active TSS	Brain Hippocampus Middle	brain
28	chr2:7126200-7128000	Enhancers	Fetal Heart	heart
29	chr2:7126200-7128000	Enhancers	Lung	lung
30	chr2:7126200-7128000	Enhancers	Right Atrium	heart
31	chr2:7126200-7128000	Enhancers	Right Ventricle	heart
32	chr2:7126200-7128200	Flanking Active TSS	Brain Substantia Nigra	brain
33	chr2:7126200-7128400	Enhancers	Fetal Kidney	kidney
34	chr2:7126200-7132800	Strong transcription	Dnd41	blood
35	chr2:7126400-7128000	Enhancers	Adipose Nuclei	Adipose
36	chr2:7126400-7128000	Enhancers	HUVEC	blood vessel
37	chr2:7126600-7128000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr2:7126600-7128000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr2:7126600-7130800	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr2:7126600-7131000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr2:7126600-7147600	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr2:7126800-7128400	Weak transcription	Primary hematopoietic stem cells	blood
43	chr2:7126800-7131000	Weak transcription	Primary T cells fromperipheralblood	blood
44	chr2:7126800-7131200	Weak transcription	K562	blood
45	chr2:7126800-7132400	Weak transcription	Stomach Smooth Muscle	stomach
46	chr2:7126800-7133200	Weak transcription	Duodenum Mucosa	Duodenum
47	chr2:7126800-7141800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr2:7126800-7148000	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr2:7127000-7129200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr2:7127000-7130800	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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