Variant report

Variant	rs398104537
Chromosome Location	chr2:99918190-99918191
allele	-/AA
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431424	chr2:99652682-100494682	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv515702	chr2:99827733-99922967	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
3	nsv458685	chr2:99827733-99922967	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
4	nsv582519	chr2:99827733-99922967	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
5	nsv874698	chr2:99827733-99924918	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
6	nsv458696	chr2:99838203-99922967	ZNF genes & repeats Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
7	nsv582520	chr2:99838203-99922967	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
8	nsv1009872	chr2:99840131-99924543	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
9	nsv1001194	chr2:99840131-99928323	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
10	nsv1005118	chr2:99841951-99924543	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
11	nsv1009459	chr2:99846306-99918895	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
12	nsv1002169	chr2:99846306-99924543	Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
13	nsv582521	chr2:99847890-99922967	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
14	nsv1007566	chr2:99847890-99924543	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
15	nsv999059	chr2:99847890-99926934	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
16	nsv1004291	chr2:99855978-99919999	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
17	nsv1003262	chr2:99858556-99924543	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
18	nsv874699	chr2:99898998-100010044	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
19	nsv961843	chr2:99916605-99924549	Weak transcription Strong transcription ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99879000-99933600	Weak transcription	Brain Cingulate Gyrus	brain
2	chr2:99892400-99918600	Weak transcription	Brain Anterior Caudate	brain
3	chr2:99892400-99935000	Weak transcription	Brain Angular Gyrus	brain
4	chr2:99894200-99934800	Weak transcription	Gastric	stomach
5	chr2:99895400-99935000	Weak transcription	Pancreas	Pancrea
6	chr2:99895800-99921000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:99895800-99933600	Weak transcription	HSMM	muscle
8	chr2:99895800-99933600	Weak transcription	HSMMtube	muscle
9	chr2:99896800-99933400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr2:99897000-99918400	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr2:99897000-99933600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr2:99897200-99918400	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr2:99897200-99933800	Weak transcription	Fetal Intestine Small	intestine
14	chr2:99897400-99933800	Weak transcription	HepG2	liver
15	chr2:99897600-99918800	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr2:99898200-99918800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr2:99898200-99934000	Weak transcription	Small Intestine	intestine
18	chr2:99898400-99938600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr2:99898600-99933800	Weak transcription	Colon Smooth Muscle	Colon
20	chr2:99899200-99918400	Weak transcription	Spleen	Spleen
21	chr2:99899400-99918600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr2:99899400-99933800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr2:99899600-99918600	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr2:99899600-99933000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr2:99899800-99935000	Weak transcription	Esophagus	oesophagus
26	chr2:99900000-99933600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr2:99900400-99933800	Weak transcription	Colonic Mucosa	Colon
28	chr2:99901000-99918600	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr2:99901200-99933400	Weak transcription	Primary B cells from cord blood	blood
30	chr2:99901200-99936600	Weak transcription	Fetal Brain Male	brain
31	chr2:99901400-99918400	Weak transcription	Brain Germinal Matrix	brain
32	chr2:99901400-99918800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr2:99901400-99922800	Weak transcription	Ovary	ovary
34	chr2:99901600-99918400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr2:99901600-99918600	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr2:99901600-99918600	Weak transcription	Psoas Muscle	Psoas
37	chr2:99901600-99918600	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr2:99901600-99919800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr2:99901600-99933400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr2:99901600-99933600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr2:99901600-99933600	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr2:99901600-99933800	Weak transcription	Primary T cells fromperipheralblood	blood
43	chr2:99901600-99933800	Weak transcription	Fetal Intestine Large	intestine
44	chr2:99901600-99941200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr2:99901800-99918400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr2:99901800-99918600	Weak transcription	Fetal Stomach	stomach
47	chr2:99901800-99919000	Weak transcription	Brain Hippocampus Middle	brain
48	chr2:99902200-99918400	Weak transcription	Dnd41	blood
49	chr2:99902800-99918600	Weak transcription	Fetal Muscle Leg	muscle
50	chr2:99907600-99918400	Weak transcription	Right Ventricle	heart

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