Variant report

Variant	rs34257414
Chromosome Location	chr17:37791894-37791895
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr17:37791765-37794352	HepG2	liver:	n/a	n/a
2	RCOR1	chr17:37791750-37792181	K562	blood:	n/a	n/a
3	SPI1	chr17:37791874-37792360	HL-60	blood:	n/a	n/a
4	ZBTB7A	chr17:37791816-37792109	K562	blood:	n/a	n/a
5	ZNF263	chr17:37791809-37792130	HEK293-T-REx	kidney:	n/a	chr17:37792002-37792011

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:37778256..37779018-chr17:37791676..37792248,2	K562	blood:
2	chr17:37785506..37788397-chr17:37788916..37793369,4	K562	blood:
3	chr17:37789471..37791960-chr17:37905766..37908053,2	MCF-7	breast:
4	chr17:37791351..37794497-chr17:37895466..37898659,4	MCF-7	breast:
5	chr17:37790905..37794856-chr17:37820000..37822270,4	K562	blood:
6	chr17:37791520..37796368-chr17:37822308..37826994,8	K562	blood:
7	chr17:37762236..37764592-chr17:37791810..37794599,2	K562	blood:
8	chr17:37790730..37792254-chr17:37891251..37894000,2	K562	blood:
9	chr17:37789742..37792172-chr17:37795424..37797567,2	MCF-7	breast:
10	chr17:37789315..37792571-chr17:37910228..37913282,4	K562	blood:

No data

Variant related genes	Relation type
STARD3	TF binding region
ENSG00000141738	Chromatin interaction
ENSG00000173991	Chromatin interaction
ENSG00000171532	Chromatin interaction
ENSG00000141744	Chromatin interaction
ENSG00000131771	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs2934965	0.81[AFR][1000 genomes]

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	nsv932024	chr17:37192290-37850932	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	92 gene(s)	inside rSNPs	diseases
2	nsv1066033	chr17:37333956-37795617	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers 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	78 gene(s)	inside rSNPs	diseases
3	nsv543340	chr17:37333956-37795617	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	78 gene(s)	inside rSNPs	diseases
4	esv1825702	chr17:37487168-37876767	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
5	nsv833442	chr17:37692880-37861291	Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
6	nsv521294	chr17:37694709-37804858	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
7	nsv908205	chr17:37709422-37830900	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
8	nsv908206	chr17:37709422-37866005	Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
9	nsv908207	chr17:37709422-37922259	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
10	nsv833443	chr17:37725640-37882864	Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
11	nsv457738	chr17:37770005-37831035	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
12	nsv574991	chr17:37770005-37831035	Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
13	nsv516757	chr17:37781849-37834541	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:37783400-37792200	Weak transcription	Lung	lung
2	chr17:37784600-37792800	Weak transcription	Right Atrium	heart
3	chr17:37785200-37792800	Enhancers	H1 Cell Line	embryonic stem cell
4	chr17:37785200-37792800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr17:37785400-37792600	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr17:37785800-37792400	Weak transcription	Fetal Lung	lung
7	chr17:37786800-37792000	Weak transcription	Spleen	Spleen
8	chr17:37787000-37792600	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr17:37787400-37792800	Enhancers	Fetal Thymus	thymus
10	chr17:37788000-37792600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
11	chr17:37788200-37792400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr17:37788200-37792600	Enhancers	Brain Substantia Nigra	brain
13	chr17:37788200-37792600	Weak transcription	HMEC	breast
14	chr17:37788200-37793000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr17:37788200-37793400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr17:37788400-37792600	Weak transcription	NHEK	skin
17	chr17:37788400-37793000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr17:37788600-37792800	Weak transcription	Fetal Brain Female	brain
19	chr17:37788800-37792200	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr17:37788800-37792800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr17:37789000-37792000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr17:37789200-37792000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr17:37789400-37793000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr17:37789600-37792400	Weak transcription	Rectal Smooth Muscle	rectum
25	chr17:37789800-37792600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr17:37789800-37792600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr17:37789800-37792600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr17:37790000-37792600	Enhancers	Duodenum Smooth Muscle	Duodenum
29	chr17:37790000-37792600	Genic enhancers	Rectal Mucosa Donor 29	rectum
30	chr17:37790000-37793200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr17:37790200-37792600	Enhancers	Primary B cells from peripheral blood	blood
32	chr17:37790400-37792400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr17:37790400-37792600	Genic enhancers	Rectal Mucosa Donor 31	rectum
34	chr17:37790400-37792600	Enhancers	HepG2	liver
35	chr17:37790400-37792800	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr17:37790400-37792800	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr17:37790400-37792800	Enhancers	Monocytes-CD14+_RO01746	blood
38	chr17:37790400-37793400	Weak transcription	Small Intestine	intestine
39	chr17:37790600-37792400	Enhancers	Skeletal Muscle Female	skeletal muscle
40	chr17:37790600-37792600	Enhancers	Primary T cells fromperipheralblood	blood
41	chr17:37790600-37792600	Enhancers	Primary T helper cells PMA-I stimulated	--
42	chr17:37790600-37792600	Genic enhancers	Brain Anterior Caudate	brain
43	chr17:37790600-37792600	Enhancers	K562	blood
44	chr17:37790600-37792800	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr17:37790600-37792800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr17:37790600-37792800	Enhancers	iPS-15b Cell Line	embryonic stem cell
47	chr17:37790600-37793000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
48	chr17:37790800-37792400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr17:37790800-37792400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr17:37790800-37792800	Enhancers	Primary B cells from cord blood	blood

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