Variant report

Variant	rs17155919
Chromosome Location	chr7:108208002-108208003
allele	C/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	ELK1	chr7:108207954-108208003	GM12878	blood:	n/a	n/a
2	POLR2A	chr7:108199426-108221976	K562	blood:	n/a	n/a
3	GATA3	chr7:108207994-108208070	SH-SY5Y	brain:	n/a	n/a
4	MXI1	chr7:108207302-108212533	SK-N-SH	brain:	n/a	n/a
5	KAP1	chr7:108207702-108208105	K562	blood:	n/a	n/a
6	POLR2A	chr7:108207425-108208014	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:108163122..108173185-chr7:108207236..108216619,40	K562	blood:
2	chr7:108159403..108171484-chr7:108200740..108214365,45	K562	blood:

Variant related genes	Relation type
DNAJB9	TF binding region
ENSG00000135241	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs17155937	1.00[ASW][hapmap];0.93[LWK][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17155982	1.00[EUR][1000 genomes]
rs17155985	1.00[EUR][1000 genomes]
rs2215139	1.00[EUR][1000 genomes]
rs2215140	1.00[EUR][1000 genomes]
rs6949765	1.00[EUR][1000 genomes]
rs6970232	1.00[EUR][1000 genomes]
rs6970387	1.00[EUR][1000 genomes]
rs6974946	1.00[EUR][1000 genomes]
rs7789721	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3348839	chr7:107377311-108286538	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised 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	91 gene(s)	inside rSNPs	diseases
2	nsv817371	chr7:108199882-108649799	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:108195600-108208400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr7:108197600-108208600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr7:108197800-108208600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr7:108198000-108208400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr7:108198400-108208400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr7:108198600-108208600	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr7:108198600-108208600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr7:108198600-108208600	Weak transcription	Fetal Brain Male	brain
9	chr7:108198600-108208600	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr7:108198600-108208600	Weak transcription	Thymus	Thymus
11	chr7:108199400-108208200	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr7:108200400-108209400	Weak transcription	Spleen	Spleen
13	chr7:108200600-108208400	Weak transcription	NHLF	lung
14	chr7:108201200-108208600	Weak transcription	Pancreas	Pancrea
15	chr7:108201600-108208600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr7:108201600-108208600	Weak transcription	Left Ventricle	heart
17	chr7:108201600-108208600	Weak transcription	Right Ventricle	heart
18	chr7:108201800-108208400	Weak transcription	Brain Germinal Matrix	brain
19	chr7:108202000-108208400	Weak transcription	Fetal Intestine Small	intestine
20	chr7:108202200-108208600	Weak transcription	Fetal Stomach	stomach
21	chr7:108202200-108209200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr7:108202400-108208400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr7:108202400-108208400	Weak transcription	HSMMtube	muscle
24	chr7:108202800-108208400	Weak transcription	NH-A	brain
25	chr7:108202800-108208400	Weak transcription	NHDF-Ad	bronchial
26	chr7:108203000-108208200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr7:108204000-108208600	Weak transcription	Fetal Muscle Trunk	muscle
28	chr7:108204600-108208400	Weak transcription	Rectal Smooth Muscle	rectum
29	chr7:108205000-108208400	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr7:108205200-108209400	Weak transcription	Gastric	stomach
31	chr7:108205400-108208400	Weak transcription	Primary neutrophils fromperipheralblood	blood
32	chr7:108205400-108208400	Weak transcription	Brain Cingulate Gyrus	brain
33	chr7:108205400-108209200	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr7:108205600-108208400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr7:108206400-108208400	Weak transcription	Primary B cells from peripheral blood	blood
36	chr7:108206400-108208400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr7:108206400-108208400	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr7:108206400-108208400	Weak transcription	Osteobl	bone
39	chr7:108206400-108208600	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr7:108206400-108208600	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr7:108206400-108208600	Weak transcription	Fetal Intestine Large	intestine
42	chr7:108206400-108208600	Weak transcription	Placenta	Placenta
43	chr7:108206400-108208600	Weak transcription	Fetal Thymus	thymus
44	chr7:108206400-108209200	Weak transcription	Aorta	Aorta
45	chr7:108206400-108209200	Weak transcription	Fetal Muscle Leg	muscle
46	chr7:108206400-108209200	Weak transcription	Ovary	ovary
47	chr7:108206600-108208400	Weak transcription	Primary hematopoietic stem cells	blood
48	chr7:108206600-108208400	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr7:108206600-108209000	Enhancers	Primary T killer memory cells from peripheral blood	blood
50	chr7:108206800-108208200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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