Variant report

Variant	rs554361951
Chromosome Location	chr2:191063147-191063148
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:191062978..191067308-chr2:191069746..191072703,3	K562	blood:
2	chr2:191058046..191059738-chr2:191062571..191064131,2	MCF-7	breast:
3	chr2:191062034..191064478-chr2:191069746..191072608,2	K562	blood:

Variant related genes	Relation type
ENSG00000198130	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

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	esv3439178	chr2:190877215-191124499	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv875619	chr2:191062951-191112241	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:191046000-191074000	Weak transcription	HMEC	breast
2	chr2:191046000-191088400	Weak transcription	HSMMtube	muscle
3	chr2:191046200-191064200	Weak transcription	HSMM	muscle
4	chr2:191046400-191063600	Weak transcription	HepG2	liver
5	chr2:191046400-191064400	Weak transcription	Pancreas	Pancrea
6	chr2:191046400-191064400	Weak transcription	Psoas Muscle	Psoas
7	chr2:191046400-191070400	Weak transcription	Fetal Stomach	stomach
8	chr2:191046600-191064400	Weak transcription	Brain Angular Gyrus	brain
9	chr2:191046600-191086400	Weak transcription	Colonic Mucosa	Colon
10	chr2:191047000-191080400	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr2:191047600-191081000	Weak transcription	Brain Anterior Caudate	brain
12	chr2:191048200-191073800	Weak transcription	Aorta	Aorta
13	chr2:191049200-191064400	Weak transcription	Brain Hippocampus Middle	brain
14	chr2:191052000-191108800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr2:191053000-191078200	Weak transcription	Right Ventricle	heart
16	chr2:191056600-191070200	Weak transcription	NHDF-Ad	bronchial
17	chr2:191056800-191064400	Weak transcription	Esophagus	oesophagus
18	chr2:191056800-191124600	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr2:191056800-191131800	Weak transcription	NHEK	skin
20	chr2:191057000-191078400	Weak transcription	Thymus	Thymus
21	chr2:191057200-191076200	Weak transcription	Fetal Kidney	kidney
22	chr2:191057800-191087800	Weak transcription	Fetal Brain Female	brain
23	chr2:191058000-191076000	Weak transcription	Colon Smooth Muscle	Colon
24	chr2:191059600-191063800	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr2:191059800-191064400	Weak transcription	Rectal Smooth Muscle	rectum
26	chr2:191059800-191064600	Weak transcription	Primary B cells from peripheral blood	blood
27	chr2:191060000-191107000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr2:191060200-191063600	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr2:191060200-191066600	Weak transcription	Dnd41	blood
30	chr2:191060200-191078600	Weak transcription	NH-A	brain
31	chr2:191060200-191090600	Weak transcription	A549	lung
32	chr2:191060400-191068000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr2:191060400-191076600	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr2:191060600-191063800	Weak transcription	Primary T helper cells fromperipheralblood	blood
35	chr2:191060600-191072000	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr2:191060600-191074000	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr2:191060600-191078200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr2:191060600-191084000	Weak transcription	HUVEC	blood vessel
39	chr2:191060600-191087800	Weak transcription	Brain Germinal Matrix	brain
40	chr2:191060800-191063800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr2:191060800-191079600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr2:191060800-191180000	Weak transcription	Small Intestine	intestine
43	chr2:191061000-191064400	Weak transcription	Brain Substantia Nigra	brain
44	chr2:191061000-191070200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr2:191061000-191089200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr2:191061200-191070200	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr2:191061400-191064600	Weak transcription	Stomach Smooth Muscle	stomach
48	chr2:191061400-191068600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr2:191061600-191065000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr2:191061600-191065000	Strong transcription	Duodenum Mucosa	Duodenum

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