Variant report

Variant	rs111570798
Chromosome Location	chr4:3229630-3229631
allele	A/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	chr4:3229618-3230488	GM12892	blood:	n/a	n/a

Variant related genes	Relation type
HTT	TF binding region

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3418626	chr4:2741174-3461492	Genic enhancers Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	esv3397632	chr4:2741239-3460583	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	nsv461163	chr4:2906285-3234980	Enhancers Strong transcription Flanking Active TSS Genic enhancers Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
4	nsv593437	chr4:2906285-3234980	Genic enhancers Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
5	nsv998290	chr4:3176454-3355758	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
6	nsv524211	chr4:3215835-3270488	Strong transcription Enhancers Genic enhancers Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
7	nsv470003	chr4:3215835-3275484	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
8	nsv878454	chr4:3215835-3305739	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Strong transcription 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 miRNA target site	6 gene(s)	inside rSNPs	diseases
9	nsv878455	chr4:3215835-3344891	Strong transcription Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
10	nsv878456	chr4:3215835-3467519	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
11	nsv428106	chr4:3226182-3752322	Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
12	esv3325048	chr4:3227704-3230502	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	esv3376417	chr4:3228054-3232752	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:3114600-3292400	Weak transcription	Right Atrium	heart
2	chr4:3145800-3239200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr4:3172400-3238800	Strong transcription	HUES64 Cell Line	embryonic stem cell
4	chr4:3193800-3233000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr4:3194000-3237600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr4:3196000-3242600	Strong transcription	Fetal Intestine Small	intestine
7	chr4:3201400-3238400	Strong transcription	HUES48 Cell Line	embryonic stem cell
8	chr4:3204800-3246000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr4:3206000-3234800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr4:3206000-3244600	Strong transcription	Primary neutrophils fromperipheralblood	blood
11	chr4:3206000-3246400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr4:3207600-3238600	Strong transcription	HUES6 Cell Line	embryonic stem cell
13	chr4:3207600-3243600	Strong transcription	Primary B cells from peripheral blood	blood
14	chr4:3207600-3244000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr4:3207600-3244600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr4:3207600-3245400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
17	chr4:3207600-3246400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr4:3207800-3229800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr4:3207800-3243200	Strong transcription	Sigmoid Colon	Sigmoid Colon
20	chr4:3207800-3243800	Strong transcription	Primary T helper cells fromperipheralblood	blood
21	chr4:3207800-3244400	Strong transcription	Duodenum Mucosa	Duodenum
22	chr4:3207800-3245400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr4:3208000-3235800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
24	chr4:3208000-3243600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr4:3208200-3237400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
26	chr4:3208200-3239200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr4:3208200-3246400	Strong transcription	Fetal Thymus	thymus
28	chr4:3208400-3244800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr4:3210000-3230200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr4:3210000-3244200	Strong transcription	Fetal Intestine Large	intestine
31	chr4:3210000-3245000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr4:3210000-3246600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr4:3210200-3230800	Strong transcription	Spleen	Spleen
34	chr4:3210200-3232400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr4:3210400-3247000	Strong transcription	Cortex derived primary cultured neurospheres	brain
36	chr4:3211000-3230800	Strong transcription	Gastric	stomach
37	chr4:3211600-3246400	Strong transcription	Thymus	Thymus
38	chr4:3213400-3242600	Strong transcription	Ovary	ovary
39	chr4:3213400-3243400	Strong transcription	Dnd41	blood
40	chr4:3213400-3245600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr4:3213600-3238800	Strong transcription	Primary T helper cells PMA-I stimulated	--
42	chr4:3213600-3245600	Strong transcription	Placenta Amnion	Placenta Amnion
43	chr4:3213800-3247600	Strong transcription	Primary T cells from cord blood	blood
44	chr4:3214000-3243400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr4:3215400-3230200	Weak transcription	K562	blood
46	chr4:3217800-3230800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr4:3219400-3230200	Strong transcription	Pancreas	Pancrea
48	chr4:3221000-3229800	Weak transcription	NHDF-Ad	bronchial
49	chr4:3221600-3238800	Weak transcription	Hela-S3	cervix
50	chr4:3221800-3229800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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