Variant report

Variant	rs72951174
Chromosome Location	chr2:98360485-98360486
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:98358429..98361588-chr2:98361675..98364926,3	K562	blood:
2	chr2:98355724..98358443-chr2:98358896..98360638,2	MCF-7	breast:
3	chr2:98339243..98341209-chr2:98358223..98360970,2	K562	blood:
4	chr2:98326491..98329371-chr2:98358007..98360980,3	MCF-7	breast:
5	chr2:98317266..98319874-chr2:98357687..98360540,2	K562	blood:

Variant related genes	Relation type
ENSG00000115085	Chromatin interaction

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

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

rs_ID	r²[population]
rs59294983	1.00[AFR][1000 genomes]
rs59646872	1.00[AFR][1000 genomes]
rs72944400	1.00[AFR][1000 genomes]
rs72944402	0.80[AFR][1000 genomes]
rs72946446	0.80[AFR][1000 genomes]
rs72946451	0.80[AFR][1000 genomes]
rs72951165	0.80[AFR][1000 genomes]
rs72951170	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	nsv531382	chr2:98250628-98457616	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv874696	chr2:98309882-98362907	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:98336400-98361400	Weak transcription	Primary B cells from cord blood	blood
2	chr2:98345000-98366400	Weak transcription	Duodenum Mucosa	Duodenum
3	chr2:98347000-98360600	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr2:98348200-98372400	Weak transcription	Esophagus	oesophagus
5	chr2:98348800-98364600	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr2:98352200-98398800	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr2:98354400-98368200	Weak transcription	Colonic Mucosa	Colon
8	chr2:98355000-98373200	Weak transcription	Gastric	stomach
9	chr2:98356600-98362000	Weak transcription	Colon Smooth Muscle	Colon
10	chr2:98356800-98362200	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr2:98356800-98363000	Weak transcription	HSMMtube	muscle
12	chr2:98357000-98365400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr2:98357200-98361000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr2:98357200-98367400	Weak transcription	Brain Substantia Nigra	brain
15	chr2:98357400-98361800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr2:98357400-98361800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr2:98357400-98362000	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr2:98357400-98362200	Weak transcription	Rectal Smooth Muscle	rectum
19	chr2:98357400-98366000	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr2:98357400-98368000	Weak transcription	Lung	lung
21	chr2:98357400-98368600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr2:98357400-98371400	Weak transcription	Dnd41	blood
23	chr2:98357400-98372000	Weak transcription	Pancreas	Pancrea
24	chr2:98357600-98363200	Enhancers	Hela-S3	cervix
25	chr2:98357600-98364600	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr2:98357600-98365800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr2:98358000-98362000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
28	chr2:98358400-98362000	Weak transcription	K562	blood
29	chr2:98358600-98372000	Weak transcription	Brain Germinal Matrix	brain
30	chr2:98358800-98360600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr2:98358800-98360600	Weak transcription	Brain Hippocampus Middle	brain
32	chr2:98358800-98361200	Enhancers	HepG2	liver
33	chr2:98358800-98371600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr2:98359000-98360600	Weak transcription	Brain Anterior Caudate	brain
35	chr2:98359000-98360600	Weak transcription	HSMM	muscle
36	chr2:98359000-98363600	Enhancers	Primary T helper cells fromperipheralblood	blood
37	chr2:98359000-98363800	Weak transcription	Fetal Brain Female	brain
38	chr2:98359000-98365000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr2:98359000-98366600	Weak transcription	Liver	Liver
40	chr2:98359000-98368400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr2:98359000-98368400	Weak transcription	NHLF	lung
42	chr2:98359200-98360600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr2:98359200-98360800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr2:98359200-98361400	Weak transcription	GM12878-XiMat	blood
45	chr2:98359200-98361800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr2:98359200-98362400	Weak transcription	Stomach Mucosa	stomach
47	chr2:98359200-98363400	Weak transcription	Fetal Heart	heart
48	chr2:98359200-98364000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr2:98359200-98364000	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr2:98359200-98364800	Weak transcription	Fetal Thymus	thymus

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