Variant report

Variant	rs2501836
Chromosome Location	chr1:212905898-212905899
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:212903641..212906640-chr1:212911722..212913953,2	K562	blood:
2	chr1:212903641..212909081-chr1:212909543..212915352,7	K562	blood:
3	chr1:212779377..212783632-chr1:212902788..212906275,3	K562	blood:
4	chr1:212900071..212902059-chr1:212903736..212906563,3	K562	blood:
5	chr1:212903656..212906475-chr1:212923448..212926257,3	K562	blood:
6	chr1:212904499..212906367-chr1:212909973..212911551,2	K562	blood:

Variant related genes	Relation type
ENSG00000162772	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs2244935	0.93[ASN][1000 genomes]
rs2456814	0.80[ASN][1000 genomes]
rs2492783	0.80[ASN][1000 genomes]
rs2492786	0.95[ASN][1000 genomes]
rs2492787	0.95[ASN][1000 genomes]
rs2501837	0.86[ASN][1000 genomes]
rs2501838	0.86[ASN][1000 genomes]
rs3006242	0.90[ASN][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	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

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212895200-212922800	Weak transcription	Left Ventricle	heart
2	chr1:212895400-212906000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr1:212895400-212906600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr1:212895400-212912000	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr1:212895400-212914600	Weak transcription	Spleen	Spleen
6	chr1:212895400-212916600	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr1:212895400-212917400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr1:212895400-212923200	Weak transcription	Brain Cingulate Gyrus	brain
9	chr1:212895400-212923400	Weak transcription	Fetal Muscle Leg	muscle
10	chr1:212895400-212923400	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr1:212895400-212926400	Weak transcription	Esophagus	oesophagus
12	chr1:212895400-212964600	Weak transcription	Pancreas	Pancrea
13	chr1:212895600-212923000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr1:212895600-212923400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr1:212895600-212964600	Weak transcription	Gastric	stomach
16	chr1:212895800-212911200	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr1:212895800-212917400	Weak transcription	NHLF	lung
18	chr1:212895800-212925600	Weak transcription	Small Intestine	intestine
19	chr1:212895800-212926200	Weak transcription	Hela-S3	cervix
20	chr1:212896000-212911800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr1:212896000-212917000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr1:212896200-212906000	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr1:212896200-212908200	Weak transcription	K562	blood
24	chr1:212896200-212912200	Weak transcription	Primary hematopoietic stem cells	blood
25	chr1:212896400-212906000	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr1:212896400-212917000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr1:212896800-212909000	Weak transcription	Primary B cells from cord blood	blood
28	chr1:212897400-212914600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr1:212897800-212911600	Weak transcription	Brain Germinal Matrix	brain
30	chr1:212898400-212909600	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr1:212898600-212923200	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr1:212898800-212911800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr1:212898800-212934000	Weak transcription	Fetal Muscle Trunk	muscle
34	chr1:212899200-212914600	Weak transcription	Ovary	ovary
35	chr1:212899800-212926400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr1:212900000-212910800	Weak transcription	Brain Substantia Nigra	brain
37	chr1:212900000-212911000	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr1:212900200-212907400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr1:212900400-212906000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr1:212900400-212906200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr1:212900400-212906200	Weak transcription	Dnd41	blood
42	chr1:212900400-212906400	Weak transcription	Thymus	Thymus
43	chr1:212900400-212914600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr1:212900400-212914600	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr1:212900400-212917400	Weak transcription	Fetal Stomach	stomach
46	chr1:212900400-212923200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr1:212900400-212927600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr1:212900400-212932600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr1:212900400-212936200	Weak transcription	Aorta	Aorta
50	chr1:212900600-212911800	Weak transcription	Psoas Muscle	Psoas

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