Variant report

Variant	rs199835081
Chromosome Location	chr2:97201908-97201909
allele	G/T
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	ZNF384	chr2:97201732-97202536	GM12878	blood:	n/a	n/a
2	ZNF143	chr2:97201650-97203066	GM12878	blood:	n/a	chr2:97202328-97202337 chr2:97202326-97202344 chr2:97202631-97202641 chr2:97202330-97202349 chr2:97202630-97202640 chr2:97202326-97202335
3	CTCF	chr2:97201900-97202050	WI-38	lung:	n/a	n/a
4	CTCF	chr2:97201860-97202010	A549	lung:	n/a	n/a
5	HCFC1	chr2:97201843-97203135	Hela-S3	cervix:	n/a	n/a
6	CTCF	chr2:97201820-97201970	GM12870	blood:	n/a	n/a
7	SREBP1	chr2:97201675-97204153	GM12878	blood:	n/a	n/a
8	ZNF384	chr2:97201763-97202689	K562	blood:	n/a	n/a
9	CTCF	chr2:97201840-97201990	HPF	lung:	n/a	n/a
10	PML	chr2:97201907-97204857	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:97200182..97202893-chr2:97212843..97214474,2	MCF-7	breast:
2	chr2:96810913..96812434-chr2:97200569..97202109,2	MCF-7	breast:
3	chr2:96872802..96875592-chr2:97201053..97203640,2	K562	blood:
4	chr2:97170365..97172764-chr2:97201540..97203996,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000235480	TF binding region
ARID5A	TF binding region
ENSG00000196843	Chromatin interaction
ENSG00000158050	Chromatin interaction
ENSG00000084090	Chromatin interaction
ENSG00000204685	Chromatin interaction
ENSG00000163121	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933671	chr2:96739308-97652262	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv1000780	chr2:96740430-97671395	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv535826	chr2:96740430-97671395	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
4	nsv874677	chr2:96756547-97717345	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
5	nsv1001204	chr2:96766559-97728507	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
6	nsv535827	chr2:96766559-97728507	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
7	esv3460902	chr2:97138421-97459342	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
8	esv3460903	chr2:97138421-97459342	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
9	nsv999871	chr2:97157196-97407711	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
10	nsv535829	chr2:97157196-97407711	Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
11	esv3341950	chr2:97201450-97203998	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:97194000-97202600	Enhancers	Placenta	Placenta
2	chr2:97194400-97202400	Enhancers	Lung	lung
3	chr2:97194800-97202000	Weak transcription	Liver	Liver
4	chr2:97197200-97202400	Enhancers	Brain Angular Gyrus	brain
5	chr2:97197200-97202400	Enhancers	Gastric	stomach
6	chr2:97197400-97202400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:97197400-97202400	Enhancers	Psoas Muscle	Psoas
8	chr2:97197800-97202000	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr2:97197800-97202400	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr2:97198000-97202000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr2:97198000-97202000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr2:97198000-97202000	Enhancers	Adipose Nuclei	Adipose
13	chr2:97198000-97202000	Enhancers	Colonic Mucosa	Colon
14	chr2:97198000-97202000	Enhancers	Duodenum Mucosa	Duodenum
15	chr2:97198000-97202200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr2:97198000-97202200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr2:97198000-97202200	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr2:97198000-97202400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr2:97198000-97202400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr2:97198000-97202400	Enhancers	Left Ventricle	heart
21	chr2:97198000-97202400	Enhancers	Right Ventricle	heart
22	chr2:97198000-97202400	Enhancers	HMEC	breast
23	chr2:97198200-97202000	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr2:97198200-97202000	Weak transcription	Thymus	Thymus
25	chr2:97198200-97202400	Enhancers	Fetal Muscle Leg	muscle
26	chr2:97198200-97202600	Weak transcription	Fetal Kidney	kidney
27	chr2:97198400-97202000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr2:97198400-97202400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
29	chr2:97198400-97203200	Weak transcription	Fetal Brain Male	brain
30	chr2:97198600-97202000	Weak transcription	Fetal Intestine Large	intestine
31	chr2:97198600-97202200	Weak transcription	Small Intestine	intestine
32	chr2:97198800-97202000	Weak transcription	Fetal Intestine Small	intestine
33	chr2:97199000-97202000	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr2:97199000-97202400	Weak transcription	Aorta	Aorta
35	chr2:97199200-97202000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr2:97199400-97202000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr2:97199400-97202200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr2:97199600-97202000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr2:97199600-97202200	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr2:97199600-97202400	Weak transcription	NH-A	brain
41	chr2:97199800-97202000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr2:97199800-97202000	Enhancers	Hela-S3	cervix
43	chr2:97199800-97202400	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr2:97200000-97202000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr2:97200000-97202000	Enhancers	Primary neutrophils fromperipheralblood	blood
46	chr2:97200000-97202000	Enhancers	Duodenum Smooth Muscle	Duodenum
47	chr2:97200000-97202000	Weak transcription	A549	lung
48	chr2:97200000-97202200	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr2:97200200-97202000	Enhancers	Rectal Mucosa Donor 29	rectum
50	chr2:97200200-97202000	Weak transcription	HSMM	muscle

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