Variant report

Variant	rs7517894
Chromosome Location	chr1:212915078-212915079
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:212899078..212902510-chr1:212913251..212915180,3	K562	blood:
2	chr1:212899078..212902712-chr1:212913429..212916281,3	K562	blood:
3	chr1:212903641..212909081-chr1:212909543..212915352,7	K562	blood:
4	chr1:212909359..212911839-chr1:212913083..212915497,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs34363978	1.00[AMR][1000 genomes]
rs41300967	1.00[AMR][1000 genomes]
rs59478106	1.00[AMR][1000 genomes]
rs6658299	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6680002	1.00[AMR][1000 genomes]
rs9659128	1.00[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	nsv1013110	chr1:212555764-212948092	Flanking Active TSS Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
2	nsv535287	chr1:212555764-212948092	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
3	nsv549148	chr1:212876902-212962207	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
4	nsv1001637	chr1:212907611-213034606	Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212895200-212922800	Weak transcription	Left Ventricle	heart
2	chr1:212895400-212916600	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr1:212895400-212917400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr1:212895400-212923200	Weak transcription	Brain Cingulate Gyrus	brain
5	chr1:212895400-212923400	Weak transcription	Fetal Muscle Leg	muscle
6	chr1:212895400-212923400	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr1:212895400-212926400	Weak transcription	Esophagus	oesophagus
8	chr1:212895400-212964600	Weak transcription	Pancreas	Pancrea
9	chr1:212895600-212923000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr1:212895600-212923400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr1:212895600-212964600	Weak transcription	Gastric	stomach
12	chr1:212895800-212917400	Weak transcription	NHLF	lung
13	chr1:212895800-212925600	Weak transcription	Small Intestine	intestine
14	chr1:212895800-212926200	Weak transcription	Hela-S3	cervix
15	chr1:212896000-212917000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr1:212896400-212917000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr1:212898600-212923200	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr1:212898800-212934000	Weak transcription	Fetal Muscle Trunk	muscle
19	chr1:212899800-212926400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr1:212900400-212917400	Weak transcription	Fetal Stomach	stomach
21	chr1:212900400-212923200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr1:212900400-212927600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr1:212900400-212932600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr1:212900400-212936200	Weak transcription	Aorta	Aorta
25	chr1:212901400-212954000	Weak transcription	NH-A	brain
26	chr1:212901600-212923000	Weak transcription	HSMM	muscle
27	chr1:212902200-212941800	Weak transcription	Fetal Kidney	kidney
28	chr1:212902600-212943600	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr1:212902800-212917200	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr1:212902800-212917200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr1:212903000-212923400	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr1:212903200-212918000	Weak transcription	Fetal Intestine Large	intestine
33	chr1:212903200-212923400	Weak transcription	Duodenum Mucosa	Duodenum
34	chr1:212903600-212926400	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr1:212904200-212923200	Weak transcription	Adipose Nuclei	Adipose
36	chr1:212904800-212926200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr1:212905200-212923200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr1:212905200-212923400	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr1:212905600-212923400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr1:212906200-212923400	Weak transcription	HMEC	breast
41	chr1:212906800-212923400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr1:212907000-212917000	Weak transcription	Thymus	Thymus
43	chr1:212907800-212917000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr1:212908000-212933200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr1:212909400-212923200	Weak transcription	Primary B cells from peripheral blood	blood
46	chr1:212910200-212915400	Strong transcription	Primary B cells from cord blood	blood
47	chr1:212911000-212922800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr1:212911400-212917000	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr1:212911600-212923000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr1:212911800-212918600	Weak transcription	Fetal Lung	lung

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