Variant report

Variant	rs139490130
Chromosome Location	chr2:73823685-73823686
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:73823661-73823729	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:73821998..73823983-chr2:73825301..73826890,2	K562	blood:

Variant related genes	Relation type
ALMS1	TF binding region

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428051	chr2:73717032-74030067	ZNF genes & repeats Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	esv2757806	chr2:73717032-74078592	Active TSS Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	esv2759060	chr2:73717032-74078592	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv874267	chr2:73717656-73857002	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
5	nsv1013385	chr2:73822056-74041441	Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	esv3413073	chr2:73823537-73824035	Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:73759600-73828000	Weak transcription	Pancreas	Pancrea
2	chr2:73760600-73828000	Weak transcription	Right Ventricle	heart
3	chr2:73765800-73837800	Weak transcription	Fetal Brain Male	brain
4	chr2:73785400-73838200	Weak transcription	Psoas Muscle	Psoas
5	chr2:73792200-73828600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr2:73797400-73828400	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr2:73800400-73827600	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr2:73800600-73828000	Weak transcription	Gastric	stomach
9	chr2:73800600-73828400	Weak transcription	Aorta	Aorta
10	chr2:73800600-73828600	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr2:73800800-73827800	Weak transcription	Duodenum Mucosa	Duodenum
12	chr2:73800800-73827800	Weak transcription	Left Ventricle	heart
13	chr2:73800800-73828000	Weak transcription	Stomach Smooth Muscle	stomach
14	chr2:73800800-73828200	Weak transcription	Brain Substantia Nigra	brain
15	chr2:73800800-73828800	Weak transcription	HSMM	muscle
16	chr2:73801000-73844000	Weak transcription	Fetal Kidney	kidney
17	chr2:73807000-73828200	Weak transcription	Fetal Thymus	thymus
18	chr2:73807600-73828000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr2:73807600-73828000	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr2:73807600-73829200	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr2:73807800-73827400	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr2:73808200-73827800	Weak transcription	Fetal Stomach	stomach
23	chr2:73808400-73828000	Weak transcription	Fetal Muscle Trunk	muscle
24	chr2:73808600-73828000	Weak transcription	Thymus	Thymus
25	chr2:73808800-73828000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr2:73808800-73828000	Weak transcription	Adipose Nuclei	Adipose
27	chr2:73812800-73828600	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr2:73815600-73827400	Weak transcription	Primary T cells from cord blood	blood
29	chr2:73815600-73827600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr2:73815600-73828200	Weak transcription	Fetal Brain Female	brain
31	chr2:73815600-73828200	Weak transcription	HepG2	liver
32	chr2:73815600-73828400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr2:73815600-73828400	Weak transcription	Brain Anterior Caudate	brain
34	chr2:73815600-73836000	Weak transcription	A549	lung
35	chr2:73815800-73826000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr2:73815800-73828000	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr2:73815800-73828200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr2:73816000-73827800	Weak transcription	Brain Hippocampus Middle	brain
39	chr2:73816000-73828000	Weak transcription	Brain Angular Gyrus	brain
40	chr2:73816000-73829000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr2:73816400-73827800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr2:73817400-73827800	Weak transcription	Fetal Intestine Large	intestine
43	chr2:73819600-73829400	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr2:73820000-73828000	Weak transcription	Primary T cells fromperipheralblood	blood
45	chr2:73820600-73828400	Weak transcription	Spleen	Spleen
46	chr2:73821000-73828400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr2:73821400-73828000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr2:73821600-73830000	Weak transcription	Osteobl	bone
49	chr2:73821800-73824800	Weak transcription	Dnd41	blood
50	chr2:73821800-73828200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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