Variant report

Variant	rs1960060
Chromosome Location	chr1:78072890-78072891
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:78065469..78069224-chr1:78069679..78073239,3	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12021502	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2274124	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs55947434	1.00[AFR][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	nsv470719	chr1:77774413-78269207	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv546591	chr1:77774413-78269207	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv870709	chr1:78016517-78198322	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	esv3337461	chr1:78036000-78153859	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:78042000-78074600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr1:78042200-78073800	Weak transcription	Fetal Brain Female	brain
3	chr1:78047600-78074600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr1:78047600-78074800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr1:78047600-78085600	Weak transcription	NHLF	lung
6	chr1:78047800-78074200	Weak transcription	Hela-S3	cervix
7	chr1:78047800-78074800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr1:78047800-78086200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr1:78047800-78090000	Weak transcription	NH-A	brain
10	chr1:78048000-78074600	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr1:78048000-78077800	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr1:78048000-78097400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr1:78050000-78075000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr1:78054000-78074800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr1:78056600-78074000	Weak transcription	Colon Smooth Muscle	Colon
16	chr1:78058000-78074800	Weak transcription	Brain Germinal Matrix	brain
17	chr1:78059000-78083200	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr1:78062800-78074200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr1:78063200-78083000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr1:78063600-78073800	Weak transcription	Liver	Liver
21	chr1:78063600-78074000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr1:78063600-78074400	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr1:78063600-78074800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr1:78063600-78075000	Weak transcription	Dnd41	blood
25	chr1:78063600-78097600	Weak transcription	Fetal Brain Male	brain
26	chr1:78064200-78075200	Weak transcription	HepG2	liver
27	chr1:78064400-78074400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr1:78064600-78074400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr1:78069600-78074000	Weak transcription	A549	lung
30	chr1:78070600-78098000	Weak transcription	Rectal Smooth Muscle	rectum
31	chr1:78070800-78073000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr1:78070800-78073600	Strong transcription	Fetal Stomach	stomach
33	chr1:78071000-78074000	Strong transcription	Fetal Intestine Large	intestine
34	chr1:78071000-78074200	Strong transcription	Primary B cells from cord blood	blood
35	chr1:78071000-78075200	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr1:78071000-78098000	Weak transcription	Colonic Mucosa	Colon
37	chr1:78071200-78085600	Weak transcription	HUVEC	blood vessel
38	chr1:78071200-78098000	Weak transcription	Small Intestine	intestine
39	chr1:78071400-78074200	Weak transcription	Duodenum Mucosa	Duodenum
40	chr1:78071400-78074400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr1:78071400-78097800	Weak transcription	Aorta	Aorta
42	chr1:78071600-78073000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr1:78071600-78073400	Weak transcription	Primary neutrophils fromperipheralblood	blood
44	chr1:78071600-78073400	Strong transcription	Primary T helper cells fromperipheralblood	blood
45	chr1:78071600-78073400	Strong transcription	Fetal Intestine Small	intestine
46	chr1:78071600-78073400	Strong transcription	Fetal Muscle Trunk	muscle
47	chr1:78071600-78073400	Strong transcription	Fetal Muscle Leg	muscle
48	chr1:78071600-78073800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr1:78071600-78074000	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr1:78071600-78074400	Weak transcription	Fetal Heart	heart

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