Variant report

Variant	rs4244197
Chromosome Location	chr1:173404605-173404606
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:173403035..173408326-chr1:173791459..173795185,5	K562	blood:
2	chr1:173403035..173406816-chr1:173791459..173795185,4	K562	blood:
3	chr1:173398890..173402305-chr1:173404603..173408427,6	K562	blood:

Variant related genes	Relation type
ENSG00000117593	Chromatin interaction
ENSG00000120334	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12239195	0.91[YRI][hapmap]
rs4244198	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4494170	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831915	chr1:173268424-173482157	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:173376200-173429000	Weak transcription	Gastric	stomach
2	chr1:173387600-173429000	Weak transcription	Lung	lung
3	chr1:173391800-173429000	Weak transcription	Ovary	ovary
4	chr1:173399200-173405800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:173399400-173408600	Weak transcription	Aorta	Aorta
6	chr1:173399400-173410000	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr1:173399400-173410800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr1:173399400-173410800	Weak transcription	Pancreas	Pancrea
9	chr1:173399400-173414400	Weak transcription	Spleen	Spleen
10	chr1:173399400-173424200	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr1:173399600-173408000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr1:173399600-173408000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr1:173399600-173408200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr1:173399600-173408600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr1:173399600-173412800	Weak transcription	Thymus	Thymus
16	chr1:173399800-173413000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr1:173399800-173413800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr1:173399800-173415400	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr1:173399800-173415600	Weak transcription	Liver	Liver
20	chr1:173400000-173407400	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr1:173400200-173408000	Weak transcription	Stomach Smooth Muscle	stomach
22	chr1:173400200-173408000	Weak transcription	HepG2	liver
23	chr1:173400200-173421000	Weak transcription	Psoas Muscle	Psoas
24	chr1:173400200-173422800	Weak transcription	NH-A	brain
25	chr1:173400400-173405800	Weak transcription	Primary T cells from cord blood	blood
26	chr1:173400400-173429000	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr1:173400600-173413000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr1:173400600-173413600	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr1:173400600-173413800	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr1:173400600-173428800	Weak transcription	Fetal Stomach	stomach
31	chr1:173400800-173408000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr1:173400800-173408200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr1:173400800-173408600	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr1:173400800-173410800	Weak transcription	Primary hematopoietic stem cells	blood
35	chr1:173400800-173410800	Weak transcription	Brain Angular Gyrus	brain
36	chr1:173400800-173411200	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr1:173400800-173412600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr1:173400800-173413400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr1:173400800-173413800	Weak transcription	Primary B cells from peripheral blood	blood
40	chr1:173400800-173413800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr1:173400800-173413800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr1:173400800-173413800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr1:173400800-173414000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr1:173400800-173414200	Weak transcription	Fetal Muscle Trunk	muscle
45	chr1:173400800-173420600	Weak transcription	Hela-S3	cervix
46	chr1:173400800-173421000	Weak transcription	Colon Smooth Muscle	Colon
47	chr1:173400800-173422800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr1:173400800-173429000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr1:173400800-173429000	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr1:173401000-173408200	Weak transcription	Brain Substantia Nigra	brain

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